Variant report

Variant	rs2071722
Chromosome Location	chrX:57147944-57147945
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:272)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:272 , 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	HMGN3	chrX:57147709-57148129	K562	blood:	n/a	n/a
2	POLR2A	chrX:57147644-57148265	HepG2	liver:	n/a	n/a
3	BCLAF1	chrX:57147792-57148176	GM12878	blood:	n/a	chrX:57147863-57147876
4	TAF1	chrX:57147682-57148212	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chrX:57147698-57148322	K562	blood:	n/a	n/a
6	POLR2A	chrX:57147528-57148264	PBDE	blood:	n/a	n/a
7	RUNX3	chrX:57147657-57148254	GM12878	blood:	n/a	n/a
8	RCOR1	chrX:57147811-57148100	GM12878	blood:	n/a	n/a
9	EGR1	chrX:57147912-57148227	K562	blood:	n/a	n/a
10	SIN3A	chrX:57147829-57148127	GM12878	blood:	n/a	n/a
11	POLR2A	chrX:57147675-57148260	GM12878	blood:	n/a	n/a
12	POLR2A	chrX:57147563-57148262	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chrX:57147733-57148108	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chrX:57147690-57148326	HepG2	liver:	n/a	n/a
15	POU2F2	chrX:57147573-57148055	GM12891	blood:	n/a	n/a
16	POLR2A	chrX:57147487-57148352	GM19193	blood:	n/a	n/a
17	POLR2A	chrX:57147608-57148346	GM18505	blood:	n/a	n/a
18	SIN3AK20	chrX:57147802-57148053	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chrX:57147733-57148274	MCF10A-Er-Src	breast:	n/a	n/a
20	GABPA	chrX:57147752-57148261	MCF-7	breast:	n/a	n/a
21	ZNF143	chrX:57147821-57148234	GM12878	blood:	n/a	chrX:57147900-57147918
22	BHLHE40	chrX:57147524-57148211	K562	blood:	n/a	chrX:57147702-57147715 chrX:57147705-57147714 chrX:57147767-57147783 chrX:57147704-57147713 chrX:57147704-57147713 chrX:57147698-57147719
23	YY1	chrX:57147770-57148107	A549	lung:	n/a	n/a
24	CTCF	chrX:57147745-57148032	GM12878	blood:	n/a	n/a
25	TBP	chrX:57147728-57148203	HepG2	liver:	n/a	n/a
26	POLR2A	chrX:57147584-57148348	GM12892	blood:	n/a	n/a
27	POLR2A	chrX:57147602-57148265	ECC-1	luminal epithelium:	n/a	n/a
28	EP300	chrX:57147820-57147957	GM12878	blood:	n/a	n/a
29	CTCF	chrX:57147680-57147970	GM12871	blood:	n/a	n/a
30	MAX	chrX:57147559-57148240	K562	blood:	n/a	n/a
31	SP1	chrX:57147653-57148288	A549	lung:	n/a	chrX:57147900-57147914 chrX:57148064-57148074
32	ELF1	chrX:57147792-57148198	K562	blood:	n/a	n/a
33	MYC	chrX:57147853-57148262	MCF10A-Er-Src	breast:	n/a	n/a
34	HEY1	chrX:57147594-57148245	HepG2	liver:	n/a	n/a
35	TAF1	chrX:57147562-57148214	HepG2	liver:	n/a	n/a
36	GTF2F1	chrX:57147793-57148263	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chrX:57147526-57148311	HEK293	kidney:	n/a	n/a
38	HEY1	chrX:57147673-57148265	K562	blood:	n/a	n/a
39	GABPA	chrX:57147773-57148117	HepG2	liver:	n/a	n/a
40	PML	chrX:57147830-57148113	K562	blood:	n/a	n/a
41	POLR2A	chrX:57147479-57148325	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chrX:57147584-57148228	GM12892	blood:	n/a	n/a
43	TBP	chrX:57147593-57148328	H1-hESC	embryonic stem cell:	n/a	n/a
44	SMC3	chrX:57147573-57148237	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chrX:57147643-57148248	A549	lung:	n/a	n/a
46	MXI1	chrX:57147235-57148899	SK-N-SH	brain:	n/a	n/a
47	MYC	chrX:57147545-57148252	K562	blood:	n/a	n/a
48	ELF1	chrX:57147749-57148188	K562	blood:	n/a	n/a
49	POLR2A	chrX:57147557-57148239	PFSK-1	brain:	n/a	n/a
50	RUNX3	chrX:57147622-57148250	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:57147918-57147968	HCPEpiC	choroid plexus:	n/a
2	chrX:57147918-57147968	ProgFib	skin:	n/a
3	chrX:57147918-57147968	HCT-116	colon:	n/a
4	chrX:57147918-57147968	SK-N-SH	brain:	n/a
5	chrX:57147918-57147968	NB4	blood:	n/a
6	chrX:57147918-57147968	SK-N-MC	brain:	n/a
7	chrX:57147918-57147968	GM06990	blood:	n/a
8	chrX:57147918-57147968	BE2_C	brain:	n/a
9	chrX:57147918-57147968	AoSMC	blood vessel:	n/a
10	chrX:57147918-57147968	SK-N-SH_RA	brain:	n/a
11	chrX:57147918-57147968	GM12878	blood:	n/a
12	chrX:57147918-57147968	T-47D	breast:	n/a
13	chrX:57147918-57147968	BJ	skin:	n/a
14	chrX:57147918-57147968	NHDF-neo	bronchial:	n/a
15	chrX:57147918-57147968	Caco-2	colon:	n/a
16	chrX:57147918-57147968	RPTEC	kidney:	n/a
17	chrX:57147918-57147968	MCF-7	breast:	n/a
18	chrX:57147918-57147968	PANC-1	pancreas:	n/a
19	chrX:57147918-57147968	PrEC	prostate:	n/a
20	chrX:57147918-57147968	Jurkat	blood:	n/a
21	chrX:57147918-57147968	AG09309	skin:	n/a
22	chrX:57147918-57147968	AG04450	lung:	fetal
23	chrX:57147918-57147968	Hepatocyte	liver:	n/a
24	chrX:57147918-57147968	PFSK-1	brain:	n/a
25	chrX:57147918-57147968	NH-A	brain:	n/a
26	chrX:57147918-57147968	AG10803	skin:	n/a
27	chrX:57147918-57147968	A549	lung:	n/a
28	chrX:57147918-57147968	CMK	blood:	n/a
29	chrX:57147918-57147968	HEK293	kidney:	embryo
30	chrX:57147918-57147968	HNPCEpiC	eye:	n/a
31	chrX:57147918-57147968	NHBE	bronchial:	n/a
32	chrX:57147918-57147968	U87	brain:	n/a
33	chrX:57147918-57147968	MCF10A-Er-Src	breast:	n/a
34	chrX:57147918-57147968	HCM	heart:	n/a
35	chrX:57147918-57147968	HCF	heart:	n/a
36	chrX:57147918-57147968	HepG2	liver:	n/a
37	chrX:57147918-57147968	HL-60	blood:	n/a
38	chrX:57147918-57147968	H1-hESC	embryonic stem cell:	embryo
39	chrX:57147918-57147968	GM12891	blood:	n/a
40	chrX:57147918-57147968	GM12892	blood:	n/a
41	chrX:57147918-57147968	GM19239	blood:	n/a
42	chrX:57147918-57147968	SAEC	small airway:	n/a
43	chrX:57147918-57147968	SKMC	muscle:	n/a
44	chrX:57147918-57147968	HUVEC	blood vessel:	n/a
45	chrX:57147918-57147968	HRCEpiC	kidney:	n/a
46	chrX:57147918-57147968	Hela-S3	cervix:	n/a
47	chrX:57147918-57147968	AG09319	gingival:	n/a
48	chrX:57147918-57147968	ovcar-3	ovarian:	n/a
49	chrX:57147918-57147968	ECC-1	luminal epithelium:	n/a
50	chrX:57147918-57147968	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:200638588..200639361-chrX:57147651..57148365,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000226310	TF binding region
SPIN2B	TF binding region
ENSG00000226310	CpG island
SPIN2B	CpG island
ENSG00000118197	Chromatin interaction
ENSG00000260088	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10521485	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12687268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs150099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs204166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2213510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2499549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2499550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2499555	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs2516019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2516020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2516023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs378487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap]
rs4030473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4129399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4587468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4607761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4826346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap]
rs538910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs5914036	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs5914037	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs5914052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs5914074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap]
rs5914874	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs5914897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap]
rs5914962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs5960235	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs5960951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap]
rs6611612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6612746	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs6612757	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs697664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs707346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs912956	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap]
rs957721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3391838	chrX:57144560-57160412	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3347206	chrX:57147222-57159535	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:57147200-57148000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chrX:57147200-57148000	Active TSS	Spleen	Spleen
3	chrX:57147200-57148200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chrX:57147200-57148200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chrX:57147200-57148200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
6	chrX:57147200-57148200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chrX:57147200-57148200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
8	chrX:57147200-57148400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chrX:57147200-57148400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chrX:57147200-57148400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chrX:57147200-57148400	Active TSS	H9 Cell Line	embryonic stem cell
12	chrX:57147200-57148400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chrX:57147200-57148400	Active TSS	Primary monocytes fromperipheralblood	blood
14	chrX:57147200-57148400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chrX:57147200-57148400	Active TSS	Colonic Mucosa	Colon
16	chrX:57147200-57148400	Active TSS	Esophagus	oesophagus
17	chrX:57147200-57148400	Active TSS	Left Ventricle	heart
18	chrX:57147200-57148400	Active TSS	Pancreas	Pancrea
19	chrX:57147200-57148600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chrX:57147200-57148600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chrX:57147200-57148600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chrX:57147200-57148600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chrX:57147200-57148600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chrX:57147200-57148600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chrX:57147200-57148600	Active TSS	Adipose Nuclei	Adipose
26	chrX:57147200-57148600	Active TSS	Brain Angular Gyrus	brain
27	chrX:57147200-57148600	Active TSS	Brain Anterior Caudate	brain
28	chrX:57147200-57148600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chrX:57147200-57148600	Active TSS	Brain Substantia Nigra	brain
30	chrX:57147200-57148600	Active TSS	Fetal Intestine Large	intestine
31	chrX:57147200-57148600	Active TSS	Ovary	ovary
32	chrX:57147200-57148600	Active TSS	Rectal Mucosa Donor 31	rectum
33	chrX:57147200-57148600	Active TSS	Rectal Smooth Muscle	rectum
34	chrX:57147200-57148600	Active TSS	Right Ventricle	heart
35	chrX:57147200-57148600	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chrX:57147200-57148600	Active TSS	Thymus	Thymus
37	chrX:57147200-57148600	Active TSS	HSMMtube	muscle
38	chrX:57147200-57148600	Active TSS	HUVEC	blood vessel
39	chrX:57147200-57148600	Active TSS	Monocytes-CD14+_RO01746	blood
40	chrX:57147200-57148600	Active TSS	NHLF	lung
41	chrX:57147200-57148800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chrX:57147200-57148800	Active TSS	H1 Cell Line	embryonic stem cell
43	chrX:57147200-57148800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chrX:57147200-57148800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chrX:57147200-57148800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chrX:57147200-57148800	Active TSS	Liver	Liver
47	chrX:57147200-57148800	Active TSS	Brain Cingulate Gyrus	brain
48	chrX:57147200-57148800	Active TSS	Brain Germinal Matrix	brain
49	chrX:57147200-57148800	Active TSS	Brain Hippocampus Middle	brain
50	chrX:57147200-57148800	Active TSS	Brain Inferior Temporal Lobe	brain

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