Variant report

Variant	esv3429687
Chromosome Location	chrX:73639127-73643875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chrX:73640340-73640380	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chrX:73642818-73642995	IMR90	lung:	n/a	n/a
3	CHD1	chrX:73642494-73642694	H1-hESC	embryonic stem cell:	n/a	chrX:73642614-73642624
4	CHD2	chrX:73641278-73641774	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chrX:73640140-73640290	BJ	skin:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
6	CTCF	chrX:73641372-73641452	MCF-7	breast:	n/a	n/a
7	CTCF	chrX:73642960-73643110	NHDF-neo	bronchial:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
8	CTCF	chrX:73641432-73641454	Fibrobl	skin:	n/a	n/a
9	CTCF	chrX:73642980-73643130	AoAF	blood vessel:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
10	CTCF	chrX:73642980-73643130	HCPEpiC	choroid plexus:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
11	CTCF	chrX:73642960-73643110	AG09309	skin:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
12	CTCF	chrX:73640180-73640330	Caco-2	colon:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
13	CTCF	chrX:73642883-73643200	IMR90	lung:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
14	CTCF	chrX:73643020-73643170	HRE	kidney:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
15	CTCF	chrX:73641331-73641481	Gliobla	brain:	n/a	n/a
16	CTCF	chrX:73642940-73643090	AG04450	lung:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
17	CTCF	chrX:73642960-73643110	SAEC	small airway:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
18	CTCF	chrX:73642980-73643130	BE2_C	brain:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
19	CTCF	chrX:73642916-73643179	H1-hESC	embryonic stem cell:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
20	CTCF	chrX:73642980-73643130	AG10803	skin:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
21	CTCF	chrX:73642940-73643090	BJ	skin:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
22	CTCF	chrX:73639853-73639875	GM12891	blood:	n/a	n/a
23	CTCF	chrX:73642940-73643090	NHEK	skin:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
24	CTCF	chrX:73642964-73643141	MCF-7	breast:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
25	CTCF	chrX:73642980-73643130	HEEpiC	esophagus:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
26	CTCF	chrX:73639246-73639327	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chrX:73642649-73642681	IMR90	lung:	n/a	n/a
28	CTCF	chrX:73641800-73641950	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chrX:73642944-73643152	MCF-7	breast:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
30	CTCF	chrX:73642920-73643070	HEK293	kidney:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
31	CTCF	chrX:73639880-73640030	SK-N-SH_RA	brain:	n/a	chrX:73639902-73639915
32	CTCF	chrX:73640190-73640235	Gliobla	brain:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
33	CTCF	chrX:73642920-73643070	HCM	heart:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
34	CTCF	chrX:73641360-73641510	AG04449	skin:	n/a	n/a
35	CTCF	chrX:73640100-73640250	SK-N-SH_RA	brain:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
36	CTCF	chrX:73642631-73642679	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chrX:73642920-73643070	WERI-Rb-1	eye:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
38	CTCF	chrX:73642940-73643090	HMEC	breast:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
39	CTCF	chrX:73642620-73642770	AG04449	skin:	n/a	n/a
40	CTCF	chrX:73642960-73643110	HCFaa	heart:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
41	CTCF	chrX:73642980-73643130	WERI-Rb-1	eye:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
42	CTCF	chrX:73640153-73640251	MCF-7	breast:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
43	CTCF	chrX:73641364-73641507	MCF-7	breast:	n/a	n/a
44	CTCF	chrX:73642953-73643149	HepG2	liver:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
45	CTCF	chrX:73641400-73641550	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chrX:73640100-73640250	HEK293	kidney:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
47	CTCF	chrX:73642980-73643130	HA-sp	spinal cord:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
48	CTCF	chrX:73642940-73643090	NHDF-neo	bronchial:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
49	CTCF	chrX:73642969-73643129	NHEK	skin:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057
50	CTCF	chrX:73642959-73643137	Fibrobl	skin:	n/a	chrX:73643034-73643055 chrX:73643041-73643054 chrX:73643039-73643057

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:73642885-73642935	AG04450	lung:	fetal
2	chrX:73641615-73641665	AG10803	skin:	n/a
3	chrX:73642885-73642935	AG04450	lung:	fetal
4	chrX:73641615-73641665	AG10803	skin:	n/a
5	chrX:73640431-73640481	H1-hESC	embryonic stem cell:	embryo
6	chrX:73642385-73642435	BJ	skin:	n/a
7	chrX:73640431-73640481	HMEC	breast:	n/a
8	chrX:73640648-73640698	NH-A	brain:	n/a
9	chrX:73642734-73642784	ECC-1	luminal epithelium:	n/a
10	chrX:73640043-73640093	BE2_C	brain:	n/a
11	chrX:73642662-73642712	BE2_C	brain:	n/a
12	chrX:73640043-73640093	SK-N-SH	brain:	n/a
13	chrX:73640648-73640698	HCF	heart:	n/a
14	chrX:73641881-73641931	HRPEpiC	eye:	n/a
15	chrX:73642734-73642784	GM12891	blood:	n/a
16	chrX:73642618-73642668	MCF10A-Er-Src	breast:	n/a
17	chrX:73639809-73639859	BJ	skin:	n/a
18	chrX:73641370-73641420	NHBE	bronchial:	n/a
19	chrX:73640043-73640093	NHBE	bronchial:	n/a
20	chrX:73641955-73642005	IMR90	lung:	fetal
21	chrX:73641370-73641420	HepG2	liver:	n/a
22	chrX:73641955-73642005	ProgFib	skin:	n/a
23	chrX:73640648-73640698	K562	blood:	n/a
24	chrX:73641370-73641420	HRPEpiC	eye:	n/a
25	chrX:73639809-73639859	GM06990	blood:	n/a
26	chrX:73640648-73640698	ProgFib	skin:	n/a
27	chrX:73642662-73642712	Caco-2	colon:	n/a
28	chrX:73640431-73640481	SKMC	muscle:	n/a
29	chrX:73642385-73642435	GM19239	blood:	n/a
30	chrX:73641370-73641420	PrEC	prostate:	n/a
31	chrX:73641073-73641123	MCF-7	breast:	n/a
32	chrX:73639809-73639859	HCPEpiC	choroid plexus:	n/a
33	chrX:73642734-73642784	GM06990	blood:	n/a
34	chrX:73642885-73642935	Jurkat	blood:	n/a
35	chrX:73642662-73642712	PFSK-1	brain:	n/a
36	chrX:73641615-73641665	AG04450	lung:	fetal
37	chrX:73641370-73641420	U87	brain:	n/a
38	chrX:73641615-73641665	NHDF-neo	bronchial:	n/a
39	chrX:73641370-73641420	A549	lung:	n/a
40	chrX:73641881-73641931	SK-N-MC	brain:	n/a
41	chrX:73641615-73641665	HRCEpiC	kidney:	n/a
42	chrX:73641073-73641123	RPTEC	kidney:	n/a
43	chrX:73642385-73642435	SKMC	muscle:	n/a
44	chrX:73642885-73642935	AG09319	gingival:	n/a
45	chrX:73642662-73642712	BJ	skin:	n/a
46	chrX:73642385-73642435	AoSMC	blood vessel:	n/a
47	chrX:73640431-73640481	PrEC	prostate:	n/a
48	chrX:73642734-73642784	GM12892	blood:	n/a
49	chrX:73641881-73641931	HCT-116	colon:	n/a
50	chrX:73642662-73642712	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chrX:73639270..73641033-chrX:73663295..73665992,2	MCF-7	breast:
2	chrX:73641312..73645233-chrX:73652537..73656511,3	MCF-7	breast:
3	chrX:73641524..73644343-chrX:73668070..73670153,2	MCF-7	breast:
4	chrX:73639998..73642268-chrX:73642358..73645836,3	MCF-7	breast:
5	chrX:73639433..73642162-chrX:73672444..73675617,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RLIM-1	chrX:73640141-73640357	XLOC_008188

Variant related genes	Relation type
SLC16A2	TF binding region
SLC16A2	CpG island
ENSG00000264531	chromatin interactions
ENSG00000147100	chromatin interactions
PYGO2	miRNA target sites

Extended variants
information (count: 46 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371565209	chrX:73639317-73639318	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs200371818	chrX:73639340-73639341	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs559767802	chrX:73639360-73639361	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs184596796	chrX:73639475-73639476	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs189821689	chrX:73639584-73639585	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs533680674	chrX:73639632-73639633	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs192780346	chrX:73639718-73639719	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs112964511	chrX:73639808-73639809	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs150527875	chrX:73639951-73639952	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs5937811	chrX:73640083-73640084	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184398171	chrX:73640185-73640186	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs368788261	chrX:73640216-73640217	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs188388832	chrX:73640246-73640247	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs72630713	chrX:73640341-73640342	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs562208934	chrX:73640455-73640456	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs2886643	chrX:73640486-73640487	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs375824882	chrX:73640519-73640520	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs5937812	chrX:73640572-73640573	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs7471866	chrX:73640666-73640667	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs181831466	chrX:73640765-73640766	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs140450364	chrX:73640893-73640894	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs5981271	chrX:73640929-73640930	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184970858	chrX:73640966-73640967	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs188909549	chrX:73641182-73641183	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs201853949	chrX:73641251-73641252	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs112201042	chrX:73641300-73641301	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374220917	chrX:73641311-73641312	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs74640724	chrX:73641323-73641324	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371230221	chrX:73641372-73641373	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6647476	chrX:73641569-73641570	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369603991	chrX:73641595-73641596	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371472639	chrX:73641703-73641704	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs375936770	chrX:73641721-73641722	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs367986149	chrX:73641731-73641732	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs201661705	chrX:73641737-73641738	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs113994162	chrX:73641831-73641832	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs145061343	chrX:73641884-73641885	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373624737	chrX:73642028-73642029	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs5981621	chrX:73642112-73642113	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs112465717	chrX:73642549-73642550	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs186968412	chrX:73643050-73643051	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs6647477	chrX:73643091-73643092	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs191388355	chrX:73643458-73643459	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs181367598	chrX:73643467-73643468	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs185012525	chrX:73643590-73643591	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189767430	chrX:73643653-73643654	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Intellectual disability	23615299	CNVD
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
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Mental retardation	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
Lujan-Fryns syndrom	21572526	CNVD
Opitz-Kaveggia syndrome	21572526	CNVD
Cerebellar atrophy	21569638	CNVD
X-linked sideroblastic anemia	21569638	CNVD
Mental retardation	21572526	CNVD
ATR-X Syndrome	22470819	CNVD
Breast cancer	21611746	CNVD
Breast cancer	19602461	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73638800-73639200	Weak transcription	HMEC	breast
2	chrX:73638800-73639400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chrX:73638800-73643200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chrX:73639000-73639200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chrX:73639000-73639400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chrX:73639200-73639400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chrX:73639200-73639400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chrX:73639200-73639400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chrX:73639200-73639400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chrX:73639200-73639400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chrX:73639200-73639400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
12	chrX:73639200-73639400	Enhancers	HMEC	breast
13	chrX:73639200-73639400	Enhancers	NH-A	brain
14	chrX:73639200-73639400	Enhancers	NHEK	skin
15	chrX:73639200-73639600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chrX:73639200-73639600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chrX:73639200-73639800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
18	chrX:73639200-73640000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chrX:73639200-73643000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chrX:73639200-73643000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chrX:73639200-73643000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chrX:73639400-73639600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chrX:73639400-73639600	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
24	chrX:73639400-73639600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
25	chrX:73639400-73639600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chrX:73639400-73639600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chrX:73639400-73639600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chrX:73639400-73639600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chrX:73639400-73639600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chrX:73639400-73639600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chrX:73639400-73639600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
32	chrX:73639400-73639600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chrX:73639400-73639600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chrX:73639400-73639600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chrX:73639400-73639600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chrX:73639400-73639600	Bivalent Enhancer	Adipose Nuclei	Adipose
37	chrX:73639400-73639600	Active TSS	Brain Anterior Caudate	brain
38	chrX:73639400-73639600	Enhancers	Brain Hippocampus Middle	brain
39	chrX:73639400-73639600	Enhancers	Duodenum Mucosa	Duodenum
40	chrX:73639400-73639600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chrX:73639400-73639600	Enhancers	Fetal Brain Male	brain
42	chrX:73639400-73639600	Flanking Active TSS	Fetal Brain Female	brain
43	chrX:73639400-73639600	Flanking Active TSS	Fetal Heart	heart
44	chrX:73639400-73639600	Enhancers	Fetal Intestine Large	intestine
45	chrX:73639400-73639600	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chrX:73639400-73639600	Flanking Active TSS	Fetal Lung	lung
47	chrX:73639400-73639600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
48	chrX:73639400-73639600	Enhancers	Left Ventricle	heart
49	chrX:73639400-73639600	Enhancers	Ovary	ovary
50	chrX:73639400-73639600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum

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