Variant report

Variant	esv3346694
Chromosome Location	chrX:138283686-138289084
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:265)
CpG islands
(count:1102)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chrX:138287512-138287696	K562	blood:	n/a	n/a
2	BACH1	chrX:138285444-138285520	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chrX:138285845-138286260	K562	blood:	n/a	n/a
4	BHLHE40	chrX:138287156-138287846	K562	blood:	n/a	n/a
5	CBX3	chrX:138285971-138286300	K562	blood:	n/a	n/a
6	CBX3	chrX:138287013-138287401	K562	blood:	n/a	n/a
7	CCNT2	chrX:138285810-138286281	K562	blood:	n/a	n/a
8	CCNT2	chrX:138287009-138287448	K562	blood:	n/a	n/a
9	CCNT2	chrX:138286505-138286778	K562	blood:	n/a	n/a
10	CREB1	chrX:138287078-138287502	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTBP2	chrX:138284616-138286747	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chrX:138285920-138286070	MCF-7	breast:	n/a	n/a
13	CTCF	chrX:138285920-138286070	HRPEpiC	eye:	n/a	n/a
14	CTCF	chrX:138285880-138286030	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chrX:138285868-138286204	H1-hESC	embryonic stem cell:	n/a	chrX:138286141-138286154 chrX:138286141-138286154
16	CTCF	chrX:138285940-138286090	HMEC	breast:	n/a	n/a
17	CTCF	chrX:138285870-138286120	A549	lung:	n/a	n/a
18	CTCF	chrX:138287260-138287410	GM12865	blood:	n/a	n/a
19	CTCF	chrX:138286100-138286250	AoAF	blood vessel:	n/a	chrX:138286141-138286154 chrX:138286141-138286154
20	CTCF	chrX:138285887-138286030	MCF-7	breast:	n/a	n/a
21	CTCF	chrX:138285940-138286090	K562	blood:	n/a	n/a
22	CTCF	chrX:138285231-138285649	H1-hESC	embryonic stem cell:	n/a	chrX:138285442-138285455 chrX:138285444-138285457
23	CTCF	chrX:138286160-138286310	K562	blood:	n/a	n/a
24	CTCF	chrX:138287522-138287581	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chrX:138286144-138286229	ProgFib	skin:	n/a	n/a
26	CTCF	chrX:138287240-138287390	HMEC	breast:	n/a	n/a
27	CTCF	chrX:138287240-138287390	Caco-2	colon:	n/a	n/a
28	CTCF	chrX:138285900-138286050	AG09319	gingival:	n/a	n/a
29	CTCF	chrX:138286034-138286050	MCF-7	breast:	n/a	n/a
30	CTCF	chrX:138285940-138286090	HCM	heart:	n/a	n/a
31	CTCF	chrX:138287120-138287270	MCF-7	breast:	n/a	n/a
32	CTCF	chrX:138285554-138285558	MCF-7	breast:	n/a	n/a
33	CTCF	chrX:138286111-138286124	ProgFib	skin:	n/a	n/a
34	CTCF	chrX:138285840-138285990	AG09319	gingival:	n/a	n/a
35	CTCF	chrX:138287624-138287641	LNCaP	prostate:	n/a	n/a
36	CTCF	chrX:138285860-138286010	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chrX:138287260-138287410	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chrX:138285960-138286110	GM12864	blood:	n/a	n/a
39	CTCF	chrX:138285828-138286253	MCF-7	breast:	n/a	chrX:138286141-138286154 chrX:138286141-138286154
40	CTCF	chrX:138285980-138286130	SAEC	small airway:	n/a	n/a
41	CTCF	chrX:138285240-138285390	AG09319	gingival:	n/a	n/a
42	CTCF	chrX:138285880-138286030	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chrX:138285927-138286338	K562	blood:	n/a	chrX:138286141-138286154 chrX:138286141-138286154
44	CTCF	chrX:138287298-138287360	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chrX:138285824-138286263	MCF-7	breast:	n/a	chrX:138286141-138286154 chrX:138286141-138286154
46	CTCF	chrX:138285940-138286090	RPTEC	kidney:	n/a	n/a
47	CTCF	chrX:138285837-138286107	ProgFib	skin:	n/a	n/a
48	CTCF	chrX:138286160-138286310	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chrX:138286140-138286290	NHEK	skin:	n/a	chrX:138286141-138286154 chrX:138286141-138286154
50	CTCF	chrX:138285900-138286050	K562	blood:	n/a	n/a

(count:1102 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:138285828-138285878	AG09309	skin:	n/a
2	chrX:138287529-138287579	T-47D	breast:	n/a
3	chrX:138285828-138285878	IMR90	lung:	fetal
4	chrX:138287613-138287663	HCT-116	colon:	n/a
5	chrX:138285828-138285878	AG09309	skin:	n/a
6	chrX:138287529-138287579	T-47D	breast:	n/a
7	chrX:138285828-138285878	IMR90	lung:	fetal
8	chrX:138287613-138287663	HCT-116	colon:	n/a
9	chrX:138286760-138286810	ECC-1	luminal epithelium:	n/a
10	chrX:138285233-138285283	HNPCEpiC	eye:	n/a
11	chrX:138286295-138286345	IMR90	lung:	fetal
12	chrX:138287578-138287628	HRCEpiC	kidney:	n/a
13	chrX:138285922-138285972	HMEC	breast:	n/a
14	chrX:138285540-138285590	BJ	skin:	n/a
15	chrX:138287039-138287089	HL-60	blood:	n/a
16	chrX:138287603-138287653	AoSMC	blood vessel:	n/a
17	chrX:138287900-138287950	SK-N-SH_RA	brain:	n/a
18	chrX:138285540-138285590	ProgFib	skin:	n/a
19	chrX:138285861-138285911	Hela-S3	cervix:	n/a
20	chrX:138287578-138287628	ovcar-3	ovarian:	n/a
21	chrX:138287603-138287653	MCF10A-Er-Src	breast:	n/a
22	chrX:138285540-138285590	PrEC	prostate:	n/a
23	chrX:138287169-138287219	AG10803	skin:	n/a
24	chrX:138287578-138287628	T-47D	breast:	n/a
25	chrX:138287603-138287653	HEK293	kidney:	embryo
26	chrX:138287603-138287653	PrEC	prostate:	n/a
27	chrX:138285233-138285283	AG04450	lung:	fetal
28	chrX:138286295-138286345	ovcar-3	ovarian:	n/a
29	chrX:138287169-138287219	GM19239	blood:	n/a
30	chrX:138287169-138287219	SK-N-MC	brain:	n/a
31	chrX:138285540-138285590	HPAEpiC	pulmonary alveolar:	n/a
32	chrX:138286760-138286810	GM12892	blood:	n/a
33	chrX:138285922-138285972	HEK293	kidney:	embryo
34	chrX:138287613-138287663	AoSMC	blood vessel:	n/a
35	chrX:138286760-138286810	SK-N-SH_RA	brain:	n/a
36	chrX:138286295-138286345	HepG2	liver:	n/a
37	chrX:138287281-138287331	SKMC	muscle:	n/a
38	chrX:138285828-138285878	NHBE	bronchial:	n/a
39	chrX:138285393-138285443	LNCaP	prostate:	n/a
40	chrX:138286295-138286345	Caco-2	colon:	n/a
41	chrX:138287169-138287219	GM12892	blood:	n/a
42	chrX:138287900-138287950	Hepatocyte	liver:	n/a
43	chrX:138287169-138287219	HL-60	blood:	n/a
44	chrX:138287169-138287219	Hela-S3	cervix:	n/a
45	chrX:138287529-138287579	HCM	heart:	n/a
46	chrX:138287169-138287219	PANC-1	pancreas:	n/a
47	chrX:138285393-138285443	SK-N-SH	brain:	n/a
48	chrX:138287039-138287089	H1-hESC	embryonic stem cell:	embryo
49	chrX:138287529-138287579	GM12878	blood:	n/a
50	chrX:138285828-138285878	Hela-S3	cervix:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:138273663..138275580-chrX:138283129..138285298,2	K562	blood:
2	chrX:138282334..138284034-chrX:138350999..138353956,2	K562	blood:
3	chrX:138287750..138289322-chrX:138289477..138291268,2	K562	blood:
4	chrX:138282011..138285172-chrX:138285245..138287356,5	MCF-7	breast:
5	chrX:138285411..138288031-chrX:138303226..138305707,3	K562	blood:
6	chr16:57126223..57126746-chrX:138285972..138286492,2	Hela-S3	cervix:
7	chrX:138210555..138212279-chrX:138288161..138290124,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MCF2-3	chrX:138286222-138286433	NONHSAT138775
2	lnc-MCF2-3	chrX:138287084-138287153	NONHSAT138775

No data

Variant related genes	Relation type
FGF13	TF binding region
FGF13	CpG island
ENSG00000140848	chromatin interactions
ENSG00000129682	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76501795	chrX:138283800-138283801	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs76767070	chrX:138283801-138283802	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184819232	chrX:138283938-138283939	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371847778	chrX:138283947-138283948	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs368119617	chrX:138283968-138283969	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77256831	chrX:138283986-138283987	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs61334649	chrX:138284057-138284058	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs72289376	chrX:138284058-138284059	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs397954603	chrX:138284061-138284062	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139884757	chrX:138284070-138284071	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs112103649	chrX:138284175-138284176	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187839495	chrX:138284203-138284204	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534833788	chrX:138284474-138284475	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs192520137	chrX:138284492-138284493	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7066638	chrX:138284582-138284583	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369628701	chrX:138284592-138284593	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs74816499	chrX:138284615-138284616	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs375855142	chrX:138284694-138284695	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111407611	chrX:138284870-138284871	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185612343	chrX:138284989-138284990	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189588936	chrX:138285033-138285034	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372289476	chrX:138285040-138285041	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs148812436	chrX:138285051-138285052	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs1894467	chrX:138285103-138285104	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs201017911	chrX:138285110-138285111	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs199812228	chrX:138285112-138285113	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs5976307	chrX:138285272-138285273	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184418628	chrX:138285287-138285288	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201335069	chrX:138285291-138285292	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189077988	chrX:138285298-138285299	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181118739	chrX:138285343-138285344	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186510395	chrX:138285393-138285394	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72616268	chrX:138285441-138285442	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs73574154	chrX:138285495-138285496	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs181017131	chrX:138285675-138285676	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs538841047	chrX:138285699-138285700	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs367636726	chrX:138285700-138285701	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs12395539	chrX:138285936-138285937	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs73634018	chrX:138286026-138286027	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs372671282	chrX:138286157-138286158	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs386827908	chrX:138286198-138286199	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs114849724	chrX:138286199-138286200	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs374963111	chrX:138286207-138286208	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs367969838	chrX:138286279-138286280	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs41304506	chrX:138286348-138286349	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs373259552	chrX:138286548-138286549	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs34376348	chrX:138287037-138287038	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs372975735	chrX:138287070-138287071	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs185138825	chrX:138287146-138287147	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs376217867	chrX:138287161-138287162	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Astrocytoma	17387387	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	21979893	CNVD
Schizophrenia	23904455	CNVD
Olfactory neuroblastoma	18408657	CNVD
infertile	22614455	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Cancer	16751803	CNVD
small cell lung cancer	20016488	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	17603634	CNVD
abnormal development	18461090	CNVD
Multiple myeloma	17550852	CNVD
Premature ovarian failure	20952765	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Hereditary coagulopathy	21993689	CNVD
Cerebellar atrophy	21569638	CNVD
Fragile x	21569638	CNVD
Abnormal corpus callosum	21572526	CNVD

Chromatin state (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:138277400-138285200	Weak transcription	Pancreas	Pancrea
2	chrX:138277600-138284000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chrX:138277600-138285400	Weak transcription	Liver	Liver
4	chrX:138277600-138286000	Weak transcription	Right Atrium	heart
5	chrX:138279000-138284800	Weak transcription	Gastric	stomach
6	chrX:138282000-138284200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chrX:138282600-138284800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chrX:138282600-138284800	Weak transcription	Psoas Muscle	Psoas
9	chrX:138282800-138284400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chrX:138282800-138285000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chrX:138282800-138285400	Weak transcription	Esophagus	oesophagus
12	chrX:138283000-138285000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chrX:138283000-138288600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chrX:138283200-138284200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chrX:138283200-138284400	Weak transcription	HSMMtube	muscle
16	chrX:138283400-138284400	Weak transcription	K562	blood
17	chrX:138283600-138284000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chrX:138283600-138284200	Weak transcription	Brain Germinal Matrix	brain
19	chrX:138283600-138284400	Weak transcription	NH-A	brain
20	chrX:138284000-138284400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chrX:138284000-138284600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
22	chrX:138284000-138284600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chrX:138284200-138284400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chrX:138284200-138284400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chrX:138284200-138284400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chrX:138284200-138284400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chrX:138284200-138284600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chrX:138284200-138284600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
29	chrX:138284200-138284600	Enhancers	Brain Germinal Matrix	brain
30	chrX:138284200-138284600	Active TSS	Fetal Brain Female	brain
31	chrX:138284200-138285000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chrX:138284400-138284600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
33	chrX:138284400-138284600	Enhancers	NH-A	brain
34	chrX:138284400-138284800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
35	chrX:138284400-138284800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chrX:138284400-138284800	Flanking Active TSS	K562	blood
37	chrX:138284400-138285000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chrX:138284400-138285000	Enhancers	HSMMtube	muscle
39	chrX:138284400-138285200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chrX:138284400-138285400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chrX:138284400-138287800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chrX:138284400-138288400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chrX:138284600-138284800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chrX:138284600-138284800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
45	chrX:138284600-138284800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
46	chrX:138284600-138285000	Bivalent Enhancer	NH-A	brain
47	chrX:138284600-138285200	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chrX:138284600-138285200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
49	chrX:138284600-138285200	Flanking Active TSS	Brain Germinal Matrix	brain
50	chrX:138284600-138286400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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