Variant report

Variant	nsv914148
Chromosome Location	chr21:47979801-48050388
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:404)
CpG islands
(count:1038)
Chromatin interactive
region (count:59)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr21:48028361-48029224	GM12878	blood:	n/a	n/a
2	ATF3	chr21:48017955-48018252	K562	blood:	n/a	chr21:48018068-48018088
3	BATF	chr21:48028473-48028947	GM12878	blood:	n/a	n/a
4	BATF	chr21:48028436-48029053	GM12878	blood:	n/a	n/a
5	BCLAF1	chr21:48025984-48026402	GM12878	blood:	n/a	n/a
6	BCLAF1	chr21:48028466-48029094	GM12878	blood:	n/a	n/a
7	BHLHE40	chr21:47984475-47984548	K562	blood:	n/a	n/a
8	BHLHE40	chr21:47983229-47983425	K562	blood:	n/a	n/a
9	BHLHE40	chr21:47979787-47979972	HepG2	liver:	n/a	n/a
10	CBX3	chr21:48017809-48018333	K562	blood:	n/a	n/a
11	CBX3	chr21:48014212-48014536	K562	blood:	n/a	n/a
12	CBX3	chr21:48017920-48018249	K562	blood:	n/a	n/a
13	CEBPB	chr21:47989027-47989372	HepG2	liver:	n/a	n/a
14	CEBPB	chr21:47988938-47989373	IMR90	lung:	n/a	n/a
15	CEBPB	chr21:48047658-48048067	K562	blood:	n/a	n/a
16	CEBPB	chr21:47989029-47989304	A549	lung:	n/a	n/a
17	CEBPB	chr21:48047791-48047968	K562	blood:	n/a	n/a
18	CEBPB	chr21:48020264-48020558	K562	blood:	n/a	n/a
19	CTCF	chr21:48018080-48018230	K562	blood:	n/a	chr21:48018186-48018199
20	CTCF	chr21:48008431-48008493	Spleen_OC	spleen:	n/a	n/a
21	CTCF	chr21:48018060-48018210	Hela-S3	cervix:	n/a	chr21:48018186-48018199
22	CTCF	chr21:48018048-48018372	K562	blood:	n/a	chr21:48018186-48018199
23	CTCF	chr21:48028993-48029068	GM12878	blood:	n/a	n/a
24	CTCF	chr21:48007283-48007335	LNCaP	prostate:	n/a	n/a
25	CTCF	chr21:47995160-47995310	MCF-7	breast:	n/a	n/a
26	CTCF	chr21:47988007-47988145	HepG2	liver:	n/a	n/a
27	CTCF	chr21:47988000-47988150	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr21:48018165-48018252	K562	blood:	n/a	chr21:48018186-48018199
29	CTCF	chr21:48028820-48028970	GM12873	blood:	n/a	n/a
30	CTCF	chr21:48018020-48018170	K562	blood:	n/a	n/a
31	CTCF	chr21:47988042-47988109	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr21:48018100-48018250	GM12867	blood:	n/a	chr21:48018186-48018199
33	CTCF	chr21:48046900-48047050	HepG2	liver:	n/a	n/a
34	CTCF	chr21:47988095-47988122	HepG2	liver:	n/a	n/a
35	CTCF	chr21:47988074-47988126	MCF-7	breast:	n/a	n/a
36	CTCF	chr21:48028680-48028830	GM12864	blood:	n/a	n/a
37	CTCF	chr21:48015320-48015470	GM12866	blood:	n/a	n/a
38	CTCF	chr21:48046860-48047010	HepG2	liver:	n/a	n/a
39	CTCF	chr21:47988076-47988108	MCF-7	breast:	n/a	n/a
40	CTCF	chr21:48028977-48029064	GM10266	blood:	n/a	n/a
41	CTCF	chr21:48018005-48018273	K562	blood:	n/a	chr21:48018186-48018199
42	CTCF	chr21:48018049-48018377	K562	blood:	n/a	chr21:48018186-48018199
43	CTCF	chr21:48002020-48002170	HepG2	liver:	n/a	n/a
44	CTCF	chr21:47980700-47980850	HepG2	liver:	n/a	n/a
45	CTCF	chr21:47988020-47988170	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr21:47987940-47988090	HL-60	blood:	n/a	n/a
47	EBF1	chr21:48026020-48026423	GM12878	blood:	n/a	n/a
48	EBF1	chr21:48042233-48042490	GM12878	blood:	n/a	n/a
49	EBF1	chr21:47979823-47979952	GM12878	blood:	n/a	n/a
50	EBF1	chr21:48025973-48026546	GM12878	blood:	n/a	n/a

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:48022339-48022389	Hepatocyte	liver:	n/a
2	chr21:48022339-48022389	Hepatocyte	liver:	n/a
3	chr21:48018632-48018682	GM06990	blood:	n/a
4	chr21:48019296-48019346	AG04449	skin:	fetal
5	chr21:48021941-48021991	SK-N-SH	brain:	n/a
6	chr21:48024639-48024689	HUVEC	blood vessel:	n/a
7	chr21:48025691-48025741	CMK	blood:	n/a
8	chr21:48024639-48024689	GM12892	blood:	n/a
9	chr21:48025100-48025150	Hela-S3	cervix:	n/a
10	chr21:48018632-48018682	GM12878	blood:	n/a
11	chr21:48025100-48025150	K562	blood:	n/a
12	chr21:48025155-48025205	SAEC	small airway:	n/a
13	chr21:48017232-48017282	ECC-1	luminal epithelium:	n/a
14	chr21:48025691-48025741	PFSK-1	brain:	n/a
15	chr21:48026043-48026093	T-47D	breast:	n/a
16	chr21:48022339-48022389	HUVEC	blood vessel:	n/a
17	chr21:48018608-48018658	BE2_C	brain:	n/a
18	chr21:48022339-48022389	ECC-1	luminal epithelium:	n/a
19	chr21:47987607-47987657	BE2_C	brain:	n/a
20	chr21:48026298-48026348	AG09319	gingival:	n/a
21	chr21:48025691-48025741	HIPEpiC	eye:	n/a
22	chr21:48015365-48015415	HCT-116	colon:	n/a
23	chr21:48025691-48025741	HEK293	kidney:	embryo
24	chr21:47987607-47987657	SK-N-SH_RA	brain:	n/a
25	chr21:48019296-48019346	CMK	blood:	n/a
26	chr21:48024683-48024733	T-47D	breast:	n/a
27	chr21:48024683-48024733	AG09319	gingival:	n/a
28	chr21:48024683-48024733	HAEpiC	amniotic membrane:	n/a
29	chr21:48018608-48018658	AG09319	gingival:	n/a
30	chr21:48026181-48026231	HIPEpiC	eye:	n/a
31	chr21:48025100-48025150	NT2-D1	testis:	n/a
32	chr21:48026181-48026231	Caco-2	colon:	n/a
33	chr21:48024683-48024733	HCM	heart:	n/a
34	chr21:48026043-48026093	CMK	blood:	n/a
35	chr21:48022339-48022389	HIPEpiC	eye:	n/a
36	chr21:47987607-47987657	H1-hESC	embryonic stem cell:	embryo
37	chr21:48015365-48015415	PrEC	prostate:	n/a
38	chr21:48015365-48015415	GM12891	blood:	n/a
39	chr21:48017232-48017282	MCF10A-Er-Src	breast:	n/a
40	chr21:48018632-48018682	LNCaP	prostate:	n/a
41	chr21:48018790-48018840	IMR90	lung:	fetal
42	chr21:48017232-48017282	NT2-D1	testis:	n/a
43	chr21:48015365-48015415	HRPEpiC	eye:	n/a
44	chr21:48026043-48026093	HCPEpiC	choroid plexus:	n/a
45	chr21:48017232-48017282	Jurkat	blood:	n/a
46	chr21:48021941-48021991	U87	brain:	n/a
47	chr21:48021941-48021991	HCM	heart:	n/a
48	chr21:48015365-48015415	NHBE	bronchial:	n/a
49	chr21:48024639-48024689	AG09309	skin:	n/a
50	chr21:48022339-48022389	HCPEpiC	choroid plexus:	n/a

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:47979855..47982153-chr21:48055162..48056734,2	MCF-7	breast:
2	chr21:48024575..48027546-chr21:48055306..48056858,2	K562	blood:
3	chr21:47971877..47975830-chr21:47983188..47986029,3	K562	blood:
4	chr21:47980753..47982887-chr21:48026648..48028879,2	MCF-7	breast:
5	chr21:48045325..48047440-chr21:48054807..48056877,2	K562	blood:
6	chr21:48021540..48023901-chr21:48055495..48057109,2	MCF-7	breast:
7	chr21:48048775..48050687-chr21:48053494..48055105,2	MCF-7	breast:
8	chr21:48042730..48044237-chr21:48044461..48046707,2	K562	blood:
9	chr21:48002194..48004914-chr21:48055144..48057333,3	MCF-7	breast:
10	chr21:47973166..47976163-chr21:48002439..48005009,2	K562	blood:
11	chr21:48021498..48023722-chr21:48025363..48027869,3	K562	blood:
12	chr21:48016127..48018173-chr21:48020936..48022713,2	K562	blood:
13	chr21:47990428..47992783-chr21:47994801..47997759,2	K562	blood:
14	chr21:48048002..48052146-chr21:48052427..48057052,6	K562	blood:
15	chr21:47982466..47985451-chr21:47987034..47988568,2	MCF-7	breast:
16	chr21:47980561..47982874-chr21:47984744..47986654,2	MCF-7	breast:
17	chr21:48027694..48030453-chr21:48039157..48041006,2	MCF-7	breast:
18	chr21:48025603..48028303-chr21:48029330..48031658,3	MCF-7	breast:
19	chr21:48013557..48016686-chr21:48017781..48019868,3	MCF-7	breast:
20	chr21:47995242..47996902-chr21:48001318..48004298,2	K562	blood:
21	chr21:48043406..48045723-chr21:48050633..48054621,3	K562	blood:
22	chr21:47974804..47979372-chr21:47979836..47984256,6	MCF-7	breast:
23	chr21:48042730..48044237-chr21:48044461..48046707,2	K562	blood:
24	chr21:48016127..48018173-chr21:48020936..48022713,2	K562	blood:
25	chr21:48017941..48023722-chr21:48025363..48028133,5	K562	blood:
26	chr21:47972221..47973948-chr21:47980674..47982187,2	K562	blood:
27	chr21:47872410..47874001-chr21:47987885..47990582,2	K562	blood:
28	chr21:47986444..47988898-chr21:48015731..48017367,2	K562	blood:
29	chr21:48010670..48012334-chr21:48047542..48049804,2	K562	blood:
30	chr21:48005218..48007630-chr21:48055834..48057649,2	K562	blood:
31	chr21:48025603..48028303-chr21:48029330..48031658,3	MCF-7	breast:
32	chr21:47977884..47980372-chr21:47985950..47987706,2	K562	blood:
33	chr21:48044131..48047004-chr21:48048003..48050751,2	MCF-7	breast:
34	chr21:48023339..48026982-chr21:48053855..48056881,6	MCF-7	breast:
35	chr21:48010670..48012334-chr21:48047542..48049804,2	K562	blood:
36	chr21:48019242..48021637-chr21:48023777..48026826,3	MCF-7	breast:
37	chr21:47920604..47922605-chr21:48015742..48017826,2	K562	blood:
38	chr21:47976473..47979943-chr21:47981689..47985824,4	K562	blood:
39	chr21:47877021..47880570-chr21:47984512..47987705,4	K562	blood:
40	chr21:48016422..48019126-chr21:48030129..48032645,2	K562	blood:
41	chr21:47984970..47986522-chr21:48008602..48011495,2	K562	blood:
42	chr21:47984970..47986522-chr21:48008602..48011495,2	K562	blood:
43	chr21:47986038..47989683-chr21:48053926..48057221,4	MCF-7	breast:
44	chr21:48025522..48028149-chr21:48060514..48063166,2	MCF-7	breast:
45	chr21:48027694..48030453-chr21:48039157..48041006,2	MCF-7	breast:
46	chr21:47990428..47992783-chr21:47994801..47997759,2	K562	blood:
47	chr21:47986444..47988898-chr21:48015731..48017367,2	K562	blood:
48	chr21:48017805..48022026-chr21:48053687..48056894,4	K562	blood:
49	chr21:47995242..47996902-chr21:48001318..48004298,2	K562	blood:
50	chr21:48028979..48030812-chr21:48051870..48054019,2	K562	blood:

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	DIP2A	hsa-miR-125a-5p	chr21:47989806-47989829

Variant related genes	Relation type
DIP2A	TF binding region
PRMT2	TF binding region
S100B	TF binding region
DIP2A	CpG island
PRMT2	CpG island
S100B	CpG island
ENSG00000160307	chromatin interactions
ENSG00000160310	chromatin interactions
ENSG00000160305	chromatin interactions

Extended variants
information (count: 2844 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:2844 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16979385	chr21:47979801-47979802	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565143551	chr21:47979812-47979813	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs190409667	chr21:47979814-47979815	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs542896798	chr21:47979847-47979848	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs550817942	chr21:47979857-47979858	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs143642154	chr21:47979941-47979942	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs182251228	chr21:47979962-47979963	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs536021014	chr21:47979990-47979991	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs548007638	chr21:47980057-47980058	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs187460638	chr21:47980085-47980086	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs533876343	chr21:47980126-47980127	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs116891360	chr21:47980146-47980147	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs115076627	chr21:47980185-47980186	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs573316187	chr21:47980215-47980216	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs527604248	chr21:47980234-47980235	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs199498016	chr21:47980237-47980238	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs545404806	chr21:47980316-47980317	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs547538139	chr21:47980319-47980320	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs537921343	chr21:47980357-47980358	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs577989872	chr21:47980493-47980494	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs560927545	chr21:47980494-47980495	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs79534140	chr21:47980512-47980513	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs529752561	chr21:47980557-47980558	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs112771161	chr21:47980564-47980565	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs561513971	chr21:47980568-47980569	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs2070429	chr21:47980570-47980571	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs375179011	chr21:47980598-47980599	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs377438725	chr21:47980606-47980607	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs370283379	chr21:47980645-47980646	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs374726250	chr21:47980656-47980657	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs368863562	chr21:47980687-47980688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs377051396	chr21:47980694-47980695	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs540571753	chr21:47980713-47980714	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs368596513	chr21:47980759-47980760	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs2839324	chr21:47980760-47980761	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs532417043	chr21:47980779-47980780	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs550985047	chr21:47980780-47980781	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs76005530	chr21:47980800-47980801	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
39	rs530177504	chr21:47980803-47980804	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs372337809	chr21:47980833-47980834	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs369015050	chr21:47980864-47980865	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs116695953	chr21:47980865-47980866	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs2839325	chr21:47980913-47980914	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs191865138	chr21:47980930-47980931	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs570395749	chr21:47980942-47980943	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs34529071	chr21:47980948-47980949	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs556152926	chr21:47980952-47980953	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs574583127	chr21:47980970-47980971	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs535552003	chr21:47980979-47980980	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs555152886	chr21:47980982-47980983	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:1645 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47943600-47990600	Strong transcription	Fetal Stomach	stomach
2	chr21:47947600-47989000	Strong transcription	Dnd41	blood
3	chr21:47947600-47991000	Strong transcription	Fetal Muscle Leg	muscle
4	chr21:47948400-47993600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:47948600-47993200	Strong transcription	Fetal Intestine Large	intestine
6	chr21:47949000-47988200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:47949000-47993600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr21:47949800-47991800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:47950000-47989200	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr21:47950000-47991000	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr21:47950200-47993200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr21:47953000-47988200	Strong transcription	Gastric	stomach
13	chr21:47953000-47988600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr21:47953200-47983400	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr21:47953200-47988400	Strong transcription	Fetal Intestine Small	intestine
16	chr21:47953200-47993000	Strong transcription	Osteobl	bone
17	chr21:47953400-47988000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr21:47956200-48001800	Weak transcription	Stomach Mucosa	stomach
19	chr21:47959200-47983400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr21:47961600-47992800	Strong transcription	Brain Hippocampus Middle	brain
21	chr21:47964600-47988400	Strong transcription	Brain Germinal Matrix	brain
22	chr21:47965200-47991200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr21:47965800-47988600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:47965800-47993400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr21:47966200-47993400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr21:47966400-47987800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr21:47966600-47988200	Strong transcription	Esophagus	oesophagus
28	chr21:47966800-47985400	Strong transcription	HMEC	breast
29	chr21:47966800-47985800	Weak transcription	K562	blood
30	chr21:47967400-47994800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr21:47968600-47990800	Strong transcription	Fetal Brain Female	brain
32	chr21:47969200-47980000	Weak transcription	Fetal Kidney	kidney
33	chr21:47969400-47987600	Strong transcription	Aorta	Aorta
34	chr21:47969600-47988200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr21:47969600-47988400	Strong transcription	Colonic Mucosa	Colon
36	chr21:47969800-47989200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr21:47970200-47992400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr21:47970400-47988200	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr21:47970400-47993200	Strong transcription	Brain Cingulate Gyrus	brain
40	chr21:47971000-47989200	Strong transcription	Placenta	Placenta
41	chr21:47971600-47991600	Strong transcription	Brain Substantia Nigra	brain
42	chr21:47972000-47988800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr21:47973200-47993000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr21:47973400-47993200	Strong transcription	Rectal Smooth Muscle	rectum
45	chr21:47973600-47989600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr21:47973600-47990600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr21:47973600-47991600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr21:47973600-47992600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr21:47973800-47983200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr21:47973800-47984200	Strong transcription	Brain Angular Gyrus	brain

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