Variant report

Variant	rs9981301
Chromosome Location	chr21:40686078-40686079
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:323)
CpG islands
(count:61)
Chromatin interactive
region (count:29)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:40685288-40687099	SK-N-MC	brain:	n/a	n/a
2	FOXM1	chr21:40685549-40686078	ECC-1	luminal epithelium:	n/a	n/a
3	E2F6	chr21:40685284-40686675	H1-hESC	embryonic stem cell:	n/a	chr21:40685427-40685439 chr21:40685548-40685557 chr21:40685550-40685560
4	POLR2A	chr21:40684951-40686864	ProgFib	skin:	n/a	n/a
5	POLR2A	chr21:40685298-40686961	GM12878	blood:	n/a	n/a
6	POLR2A	chr21:40684903-40686876	K562	blood:	n/a	n/a
7	POLR2A	chr21:40685164-40686821	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr21:40685074-40686979	K562	blood:	n/a	n/a
9	TEAD4	chr21:40685377-40686193	K562	blood:	n/a	n/a
10	MYC	chr21:40685389-40686106	HepG2	liver:	n/a	n/a
11	UBTF	chr21:40684951-40686805	K562	blood:	n/a	n/a
12	POLR2A	chr21:40685320-40686932	K562	blood:	n/a	n/a
13	CHD2	chr21:40685053-40686356	K562	blood:	n/a	chr21:40685430-40685440 chr21:40685423-40685433
14	POU2F2	chr21:40685309-40686892	GM12878	blood:	n/a	chr21:40685864-40685876 chr21:40685768-40685780 chr21:40685867-40685879
15	POLR2A	chr21:40685344-40686332	HepG2	liver:	n/a	n/a
16	EGR1	chr21:40685268-40686097	ECC-1	luminal epithelium:	n/a	chr21:40685338-40685351 chr21:40685341-40685350 chr21:40685868-40685881
17	NR2F2	chr21:40685546-40686273	K562	blood:	n/a	n/a
18	CEBPB	chr21:40685891-40686125	HepG2	liver:	n/a	n/a
19	ETS1	chr21:40686041-40686404	K562	blood:	n/a	n/a
20	TBP	chr21:40685371-40686719	H1-hESC	embryonic stem cell:	n/a	n/a
21	RELA	chr21:40685304-40686773	GM15510	blood:	n/a	n/a
22	POLR2A	chr21:40685276-40686122	GM12892	blood:	n/a	n/a
23	MYC	chr21:40685305-40686158	K562	blood:	n/a	chr21:40685337-40685347
24	E2F4	chr21:40685026-40686759	K562	blood:	n/a	chr21:40685109-40685119 chr21:40685427-40685439 chr21:40685548-40685557 chr21:40685141-40685151 chr21:40685550-40685560 chr21:40685111-40685120
25	PML	chr21:40685283-40686737	MCF-7	breast:	n/a	n/a
26	RCOR1	chr21:40685534-40686585	GM12878	blood:	n/a	n/a
27	MYC	chr21:40685342-40686226	K562	blood:	n/a	n/a
28	ZNF143	chr21:40685459-40686713	H1-hESC	embryonic stem cell:	n/a	chr21:40685866-40685884
29	RAD21	chr21:40685703-40686698	IMR90	lung:	n/a	chr21:40685853-40685867 chr21:40685855-40685868
30	CCNT2	chr21:40684902-40686697	K562	blood:	n/a	chr21:40685051-40685060 chr21:40685265-40685274 chr21:40685765-40685774
31	TCF12	chr21:40685299-40686459	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr21:40685154-40686915	HL-60	blood:	n/a	n/a
33	POLR2A	chr21:40685252-40686938	GM12891	blood:	n/a	n/a
34	TAF1	chr21:40685159-40686278	ECC-1	luminal epithelium:	n/a	n/a
35	SIN3AK20	chr21:40684015-40687111	MCF-7	breast:	n/a	n/a
36	POLR2A	chr21:40684347-40686942	K562	blood:	n/a	n/a
37	POLR2A	chr21:40684890-40687595	K562	blood:	n/a	n/a
38	CHD2	chr21:40685403-40686780	H1-hESC	embryonic stem cell:	n/a	chr21:40685430-40685440 chr21:40685423-40685433
39	HEY1	chr21:40684916-40686853	K562	blood:	n/a	chr21:40685861-40685876 chr21:40685748-40685763 chr21:40685144-40685159 chr21:40685469-40685484
40	MAZ	chr21:40685400-40686500	HepG2	liver:	n/a	n/a
41	POLR2A	chr21:40685056-40686987	K562	blood:	n/a	n/a
42	TBP	chr21:40685300-40686865	K562	blood:	n/a	n/a
43	STAT5A	chr21:40685420-40686258	GM12878	blood:	n/a	chr21:40685766-40685778
44	MAZ	chr21:40685080-40686679	Hela-S3	cervix:	n/a	chr21:40685337-40685347 chr21:40685086-40685096
45	POLR2A	chr21:40684964-40686717	GM18526	blood:	n/a	n/a
46	ZNF274	chr21:40685732-40686174	K562	blood:	n/a	n/a
47	GABPA	chr21:40685241-40686091	K562	blood:	n/a	chr21:40685422-40685431
48	REST	chr21:40685282-40686099	MCF-7	breast:	n/a	chr21:40685323-40685336
49	REST	chr21:40683818-40686869	H1-neurons	neurons:	n/a	chr21:40685323-40685336
50	POLR2A	chr21:40685117-40686938	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:40686053-40686103	HUVEC	blood vessel:	n/a
2	chr21:40686053-40686103	HNPCEpiC	eye:	n/a
3	chr21:40686053-40686103	A549	lung:	n/a
4	chr21:40686053-40686103	GM12878	blood:	n/a
5	chr21:40686053-40686103	NB4	blood:	n/a
6	chr21:40686053-40686103	AG04450	lung:	fetal
7	chr21:40686053-40686103	HAEpiC	amniotic membrane:	n/a
8	chr21:40686053-40686103	LNCaP	prostate:	n/a
9	chr21:40686053-40686103	HL-60	blood:	n/a
10	chr21:40686053-40686103	HRCEpiC	kidney:	n/a
11	chr21:40686053-40686103	RPTEC	kidney:	n/a
12	chr21:40686053-40686103	PrEC	prostate:	n/a
13	chr21:40686053-40686103	AG09309	skin:	n/a
14	chr21:40686053-40686103	HCT-116	colon:	n/a
15	chr21:40686053-40686103	SKMC	muscle:	n/a
16	chr21:40686053-40686103	AG09319	gingival:	n/a
17	chr21:40686053-40686103	MCF10A-Er-Src	breast:	n/a
18	chr21:40686053-40686103	MCF-7	breast:	n/a
19	chr21:40686053-40686103	NHBE	bronchial:	n/a
20	chr21:40686053-40686103	NT2-D1	testis:	n/a
21	chr21:40686053-40686103	HEEpiC	esophagus:	n/a
22	chr21:40686053-40686103	BJ	skin:	n/a
23	chr21:40686053-40686103	PFSK-1	brain:	n/a
24	chr21:40686053-40686103	AG10803	skin:	n/a
25	chr21:40686053-40686103	BE2_C	brain:	n/a
26	chr21:40686053-40686103	HEK293	kidney:	embryo
27	chr21:40686053-40686103	U87	brain:	n/a
28	chr21:40686053-40686103	ECC-1	luminal epithelium:	n/a
29	chr21:40686053-40686103	Jurkat	blood:	n/a
30	chr21:40686053-40686103	HPAEpiC	pulmonary alveolar:	n/a
31	chr21:40686053-40686103	AG04449	skin:	fetal
32	chr21:40686053-40686103	PANC-1	pancreas:	n/a
33	chr21:40686053-40686103	K562	blood:	n/a
34	chr21:40686053-40686103	IMR90	lung:	fetal
35	chr21:40686053-40686103	HepG2	liver:	n/a
36	chr21:40686053-40686103	GM12892	blood:	n/a
37	chr21:40686053-40686103	Hela-S3	cervix:	n/a
38	chr21:40686053-40686103	HCPEpiC	choroid plexus:	n/a
39	chr21:40686053-40686103	NHDF-neo	bronchial:	n/a
40	chr21:40686053-40686103	ProgFib	skin:	n/a
41	chr21:40686053-40686103	HCF	heart:	n/a
42	chr21:40686053-40686103	SK-N-SH_RA	brain:	n/a
43	chr21:40686053-40686103	SAEC	small airway:	n/a
44	chr21:40686053-40686103	SK-N-MC	brain:	n/a
45	chr21:40686053-40686103	HRPEpiC	eye:	n/a
46	chr21:40686053-40686103	Caco-2	colon:	n/a
47	chr21:40686053-40686103	CMK	blood:	n/a
48	chr21:40686053-40686103	AoSMC	blood vessel:	n/a
49	chr21:40686053-40686103	ovcar-3	ovarian:	n/a
50	chr21:40686053-40686103	NH-A	brain:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40683319..40690926-chr21:40755872..40762716,23	MCF-7	breast:
2	chr2:238392237..238394703-chr21:40685639..40687456,2	MCF-7	breast:
3	chr21:40554013..40557423-chr21:40684520..40688084,3	MCF-7	breast:
4	chr19:33863948..33864786-chr21:40685269..40686182,2	Hela-S3	cervix:
5	chr21:37527438..37529025-chr21:40684261..40686264,2	MCF-7	breast:
6	chr21:40685861..40686376-chr21:40719745..40720551,2	MCF-7	breast:
7	chr21:40685228..40687774-chr21:40751832..40753804,3	K562	blood:
8	chr11:64545391..64546081-chr21:40685867..40686815,2	NB4	blood:
9	chr21:40684209..40686276-chr21:40817224..40819799,4	MCF-7	breast:
10	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
11	chr21:40683837..40687545-chr21:40816624..40819639,6	K562	blood:
12	chr21:40681416..40687854-chr21:40744378..40751195,8	K562	blood:
13	chr1:204379398..204382038-chr21:40683560..40686325,2	MCF-7	breast:
14	chr21:40683876..40687631-chr21:40749667..40753921,6	K562	blood:
15	chr21:40685837..40686745-chr5:175875260..175875880,2	Hela-S3	cervix:
16	chr20:50349937..50351852-chr21:40684525..40686487,2	MCF-7	breast:
17	chr21:40683271..40692626-chr21:40743960..40754349,22	MCF-7	breast:
18	chr21:40684466..40689800-chr21:40758261..40763098,10	K562	blood:
19	chr21:40684648..40686149-chr3:63849352..63850917,2	MCF-7	breast:
20	chr21:40683646..40687466-chr21:40813293..40816602,5	MCF-7	breast:
21	chr21:40550424..40553042-chr21:40683249..40686279,3	K562	blood:
22	chr21:40682856..40693378-chr21:40754350..40765471,56	MCF-7	breast:
23	chr21:40683489..40689074-chr21:40750757..40754639,9	MCF-7	breast:
24	chr21:40685845..40686781-chr3:9438942..9439442,2	Hela-S3	cervix:
25	chr21:40684332..40690368-chr21:40756970..40764337,16	K562	blood:
26	chr21:40684444..40687629-chr3:63848425..63851169,6	MCF-7	breast:
27	chr21:40684138..40686385-chr9:131445458..131447217,2	MCF-7	breast:
28	chr21:40684582..40688018-chr21:40762846..40766549,4	MCF-7	breast:
29	chr21:40553454..40557456-chr21:40682892..40687176,12	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRB-2	chr21:40685704-40686091	XLOC_013942
2	lnc-BRWD1-IT2-1	chr21:40685861-40686888	NONHSAT082161
3	lnc-BRWD1-IT2-1	chr21:40685887-40686886	ENSG00000255568.2
4	lnc-BRWD1-IT2-1	chr21:40685888-40686369	ENSG00000255568.2

No data

Variant related genes	Relation type
BRWD1-AS1	TF binding region
BRWD1	TF binding region
BRWD1-AS1	CpG island
BRWD1	CpG island
ENSG00000182093	Chromatin interaction
ENSG00000163635	Chromatin interaction
ENSG00000113194	Chromatin interaction
ENSG00000119335	Chromatin interaction
ENSG00000236830	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000158615	Chromatin interaction
ENSG00000215444	Chromatin interaction
ENSG00000252915	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000227406	Chromatin interaction
ENSG00000168137	Chromatin interaction
ENSG00000238556	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000206573	Chromatin interaction
ENSG00000163634	Chromatin interaction
ENSG00000272991	Chromatin interaction
ENSG00000115648	Chromatin interaction
ENSG00000153879	Chromatin interaction

Extended variants
information (count: 141 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs1011413	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10154217	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1041439	0.84[CHB][hapmap]
rs11088471	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11088472	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11910705	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11910906	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11910971	0.84[CHB][hapmap]
rs11911822	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12482181	0.85[YRI][hapmap]
rs12626405	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13051430	0.84[CHB][hapmap]
rs13625	0.85[YRI][hapmap]
rs14194	0.85[YRI][hapmap]
rs1541100	0.85[CHB][hapmap]
rs1541102	0.85[YRI][hapmap]
rs1882779	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1888487	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1888488	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1963676	0.81[ASN][1000 genomes]
rs1984022	0.86[YRI][hapmap]
rs1984748	0.84[CHB][hapmap]
rs2005933	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2026265	0.86[YRI][hapmap]
rs2026266	0.84[CHB][hapmap]
rs2037925	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2142111	0.92[CEU][hapmap];0.87[JPT][hapmap];0.82[YRI][hapmap]
rs2142117	0.84[CHB][hapmap]
rs2150410	0.84[CHB][hapmap]
rs2150413	0.96[YRI][hapmap]
rs2150414	0.96[YRI][hapmap]
rs2150415	0.83[YRI][hapmap]
rs2183573	0.96[CEU][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2183575	0.84[CHB][hapmap]
rs2183576	0.83[CHB][hapmap]
rs2234543	0.85[YRI][hapmap]
rs2245455	0.92[CEU][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap]
rs2272576	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs2272577	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs2272578	0.86[ASN][1000 genomes]
rs2297258	0.86[ASN][1000 genomes]
rs2410104	0.85[CHB][hapmap]
rs2410123	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2410124	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836925	0.85[YRI][hapmap]
rs2836929	0.85[YRI][hapmap]
rs2836932	0.85[YRI][hapmap]
rs2836933	0.86[YRI][hapmap]
rs2836956	0.96[YRI][hapmap]
rs2836957	0.86[YRI][hapmap]
rs2836958	0.96[YRI][hapmap]
rs2836964	0.85[YRI][hapmap]
rs2836965	0.85[YRI][hapmap]
rs2836967	0.86[YRI][hapmap]
rs2836968	0.85[YRI][hapmap]
rs2836969	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2836971	0.88[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2836974	0.85[YRI][hapmap]
rs2836975	0.96[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2836981	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836982	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2836986	1.00[CEU][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2836987	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2836988	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34240248	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34436313	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35182074	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35909862	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs371625	0.80[AMR][1000 genomes]
rs3746885	0.86[ASN][1000 genomes]
rs3746886	0.86[ASN][1000 genomes]
rs377098	0.92[CEU][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes]
rs418298	0.92[CEU][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes]
rs418359	0.92[CEU][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes]
rs419469	0.92[CEU][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes]
rs428602	0.92[CEU][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap]
rs442972	0.80[AMR][1000 genomes]
rs452377	0.80[AMR][1000 genomes]
rs4624474	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4816619	0.85[CHB][hapmap]
rs4816620	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4816623	0.83[ASN][1000 genomes]
rs4818005	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4818007	0.85[CHB][hapmap]
rs4818011	0.85[CHB][hapmap]
rs4818015	0.96[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4818017	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61300849	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6517519	0.85[YRI][hapmap]
rs6517523	0.85[YRI][hapmap]
rs6517526	0.85[YRI][hapmap]
rs6517529	0.85[CHB][hapmap]
rs6517531	0.83[CHB][hapmap]
rs6517532	0.84[CHB][hapmap]
rs6517535	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6517538	0.85[YRI][hapmap]
rs6517540	0.87[ASN][1000 genomes]
rs6517541	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs718225	0.85[CHB][hapmap]
rs719230	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7275773	0.84[CHB][hapmap]
rs7276774	0.91[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7278297	0.96[YRI][hapmap]
rs7278985	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7279558	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7280326	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7280375	0.85[YRI][hapmap]
rs7281853	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7282604	0.92[CEU][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes]
rs7283439	0.85[CHB][hapmap]
rs7283516	0.86[YRI][hapmap]
rs8127087	0.86[YRI][hapmap]
rs8127391	0.85[CHB][hapmap]
rs8127986	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8128026	0.83[YRI][hapmap]
rs8128118	0.86[CHB][hapmap]
rs8130795	0.80[AMR][1000 genomes]
rs8130854	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8130984	0.89[YRI][hapmap]
rs8131150	0.84[CHB][hapmap]
rs8131263	0.85[CHB][hapmap]
rs8132230	0.84[CHB][hapmap]
rs8132285	0.86[YRI][hapmap]
rs9636957	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs973521	0.84[CHB][hapmap]
rs997147	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9974757	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9975119	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9975562	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9978591	0.85[CHB][hapmap]
rs9978775	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9979483	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9981656	0.83[ASN][1000 genomes]
rs9982111	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv3429298	chr21:40670131-40688774	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	esv3439649	chr21:40683507-40687455	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
7	nsv587482	chr21:40684427-40706594	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs9981301	PSMG1	cis	lung	GTEx
rs9981301	BRWD1	Cis_1M	lymphoblastoid	RTeQTL
rs9981301	BRWD1	cis	Frontal Cortex	GTEx
rs9981301	PSMG1	cis	Esophagus Mucosa	GTEx
rs9981301	BRWD1	cis	Brain Pons	GTEx
rs9981301	BRWD1	cis	Temporal Cortex	GTEx
rs9981301	BRWD1	cis	Cerebellum	GTEx
rs9981301	PSMG1	cis	Skin Sun Exposed Lower leg	GTEx
rs9981301	PSMG1	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40683600-40686600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr21:40683800-40686400	Active TSS	Thymus	Thymus
3	chr21:40684000-40686200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
4	chr21:40684000-40686200	Active TSS	Fetal Thymus	thymus
5	chr21:40684000-40686400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:40684000-40686400	Active TSS	Right Ventricle	heart
7	chr21:40684000-40686600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr21:40684000-40686600	Active TSS	Aorta	Aorta
9	chr21:40684000-40686600	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr21:40684200-40686200	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr21:40684200-40686200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr21:40684200-40686200	Active TSS	Brain Anterior Caudate	brain
13	chr21:40684200-40686200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr21:40684200-40686400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr21:40684200-40686400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:40684200-40686400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:40684200-40686400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr21:40684200-40686400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr21:40684200-40686400	Active TSS	Brain Cingulate Gyrus	brain
20	chr21:40684200-40686400	Active TSS	Fetal Brain Female	brain
21	chr21:40684200-40686400	Active TSS	Pancreas	Pancrea
22	chr21:40684200-40686400	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr21:40684200-40686400	Active TSS	GM12878-XiMat	blood
24	chr21:40684200-40686600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr21:40684200-40686600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr21:40684200-40686600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:40684200-40686600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr21:40684200-40686600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr21:40684200-40686600	Active TSS	Fetal Intestine Large	intestine
30	chr21:40684200-40686600	Active TSS	Fetal Intestine Small	intestine
31	chr21:40684200-40686600	Active TSS	Fetal Stomach	stomach
32	chr21:40684200-40686600	Active TSS	Left Ventricle	heart
33	chr21:40684200-40686600	Active TSS	Ovary	ovary
34	chr21:40684200-40686600	Active TSS	Psoas Muscle	Psoas
35	chr21:40684200-40686600	Active TSS	Stomach Smooth Muscle	stomach
36	chr21:40684200-40686600	Active TSS	HSMM	muscle
37	chr21:40684200-40686800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr21:40684200-40686800	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr21:40684400-40686200	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr21:40684400-40686200	Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr21:40684400-40686200	Active TSS	Primary B cells from peripheral blood	blood
42	chr21:40684400-40686200	Active TSS	Primary T cells fromperipheralblood	blood
43	chr21:40684400-40686200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr21:40684400-40686200	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr21:40684400-40686200	Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr21:40684400-40686200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr21:40684400-40686200	Active TSS	Muscle Satellite Cultured Cells	--
48	chr21:40684400-40686200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr21:40684400-40686200	Active TSS	Adipose Nuclei	Adipose
50	chr21:40684400-40686200	Weak transcription	Fetal Heart	heart

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Variant report

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