Variant report

Variant	rs7471866
Chromosome Location	chrX:73640666-73640667
allele	C/G
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	STAT3	chrX:73640616-73640771	MCF10A-Er-Src	breast:	n/a	chrX:73640677-73640688 chrX:73640651-73640663 chrX:73640693-73640705
2	POLR2A	chrX:73640349-73640826	A549	lung:	n/a	n/a
3	POLR2A	chrX:73640604-73640813	A549	lung:	n/a	n/a
4	YY1	chrX:73640522-73640755	SK-N-SH_RA	brain:	n/a	chrX:73640620-73640634
5	STAT3	chrX:73640609-73640714	MCF10A-Er-Src	breast:	n/a	chrX:73640677-73640688 chrX:73640651-73640663 chrX:73640693-73640705
6	MAZ	chrX:73639913-73641915	IMR90	lung:	n/a	n/a
7	POLR2A	chrX:73640162-73641535	U87	brain:	n/a	n/a
8	REST	chrX:73639379-73641880	H1-neurons	neurons:	n/a	chrX:73640771-73640784 chrX:73640477-73640490 chrX:73640477-73640490 chrX:73640219-73640232
9	POLR2A	chrX:73640100-73640865	A549	lung:	n/a	n/a
10	ZNF263	chrX:73640062-73641896	HEK293-T-REx	kidney:	n/a	chrX:73640650-73640659 chrX:73641149-73641158 chrX:73640918-73640927
11	POLR2A	chrX:73640366-73640844	HUVEC	blood vessel:	n/a	n/a
12	PBX3	chrX:73640392-73640846	SK-N-SH	brain:	n/a	n/a
13	PBX3	chrX:73640147-73640933	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chrX:73640118-73641510	U87	brain:	n/a	n/a
15	POLR2A	chrX:73640121-73641651	ProgFib	skin:	n/a	n/a
16	E2F4	chrX:73640556-73640700	MCF10A-Er-Src	breast:	n/a	chrX:73640690-73640700 chrX:73640676-73640688
17	MAX	chrX:73640194-73642007	A549	lung:	n/a	n/a
18	POLR2A	chrX:73640105-73640716	ECC-1	luminal epithelium:	n/a	n/a
19	SIN3A	chrX:73639599-73641513	H1-hESC	embryonic stem cell:	n/a	chrX:73640768-73640781
20	MXI1	chrX:73639600-73641959	IMR90	lung:	n/a	n/a
21	TCF12	chrX:73640376-73641559	A549	lung:	n/a	chrX:73640865-73640872
22	MAX	chrX:73640520-73640902	A549	lung:	n/a	n/a
23	POLR2A	chrX:73640371-73640712	HCT-116	colon:	n/a	n/a
24	POLR2A	chrX:73640182-73640769	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chrX:73640309-73640675	MCF-7	breast:	n/a	n/a
26	POLR2A	chrX:73640564-73640784	Gliobla	brain:	n/a	n/a
27	POLR2A	chrX:73640102-73640695	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chrX:73640461-73640805	SK-N-SH_RA	brain:	n/a	chrX:73640620-73640634
29	TAF1	chrX:73640492-73640711	SK-N-SH	brain:	n/a	n/a
30	STAT3	chrX:73640626-73640757	MCF10A-Er-Src	breast:	n/a	chrX:73640677-73640688 chrX:73640651-73640663 chrX:73640693-73640705
31	POLR2A	chrX:73639582-73641618	H1-neurons	neurons:	n/a	n/a
32	PBX3	chrX:73640431-73640721	A549	lung:	n/a	n/a
33	POLR2A	chrX:73640184-73640900	A549	lung:	n/a	n/a
34	POLR2A	chrX:73640328-73641539	IMR90	lung:	n/a	n/a
35	POLR2A	chrX:73640303-73640709	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chrX:73640324-73641426	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chrX:73639985-73640929	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chrX:73639626-73641696	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chrX:73640198-73640892	PANC-1	pancreas:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:73640648-73640698	HepG2	liver:	n/a
2	chrX:73640648-73640698	SAEC	small airway:	n/a
3	chrX:73640648-73640698	HRPEpiC	eye:	n/a
4	chrX:73640648-73640698	PANC-1	pancreas:	n/a
5	chrX:73640648-73640698	PrEC	prostate:	n/a
6	chrX:73640648-73640698	NHDF-neo	bronchial:	n/a
7	chrX:73640648-73640698	HPAEpiC	pulmonary alveolar:	n/a
8	chrX:73640648-73640698	IMR90	lung:	fetal
9	chrX:73640648-73640698	GM19239	blood:	n/a
10	chrX:73640648-73640698	Caco-2	colon:	n/a
11	chrX:73640648-73640698	BJ	skin:	n/a
12	chrX:73640648-73640698	AG04450	lung:	fetal
13	chrX:73640648-73640698	HEEpiC	esophagus:	n/a
14	chrX:73640648-73640698	HCF	heart:	n/a
15	chrX:73640648-73640698	ECC-1	luminal epithelium:	n/a
16	chrX:73640648-73640698	A549	lung:	n/a
17	chrX:73640648-73640698	Jurkat	blood:	n/a
18	chrX:73640648-73640698	AG10803	skin:	n/a
19	chrX:73640648-73640698	HL-60	blood:	n/a
20	chrX:73640648-73640698	HCPEpiC	choroid plexus:	n/a
21	chrX:73640648-73640698	GM12878	blood:	n/a
22	chrX:73640648-73640698	AoSMC	blood vessel:	n/a
23	chrX:73640648-73640698	GM06990	blood:	n/a
24	chrX:73640648-73640698	GM12891	blood:	n/a
25	chrX:73640648-73640698	H1-hESC	embryonic stem cell:	embryo
26	chrX:73640648-73640698	SK-N-SH	brain:	n/a
27	chrX:73640648-73640698	NHBE	bronchial:	n/a
28	chrX:73640648-73640698	Hela-S3	cervix:	n/a
29	chrX:73640648-73640698	U87	brain:	n/a
30	chrX:73640648-73640698	CMK	blood:	n/a
31	chrX:73640648-73640698	RPTEC	kidney:	n/a
32	chrX:73640648-73640698	NT2-D1	testis:	n/a
33	chrX:73640648-73640698	HEK293	kidney:	embryo
34	chrX:73640648-73640698	T-47D	breast:	n/a
35	chrX:73640648-73640698	HRCEpiC	kidney:	n/a
36	chrX:73640648-73640698	BE2_C	brain:	n/a
37	chrX:73640648-73640698	NB4	blood:	n/a
38	chrX:73640648-73640698	AG09319	gingival:	n/a
39	chrX:73640648-73640698	HRE	kidney:	n/a
40	chrX:73640648-73640698	MCF-7	breast:	n/a
41	chrX:73640648-73640698	AG09309	skin:	n/a
42	chrX:73640648-73640698	HIPEpiC	eye:	n/a
43	chrX:73640648-73640698	SKMC	muscle:	n/a
44	chrX:73640648-73640698	ProgFib	skin:	n/a
45	chrX:73640648-73640698	SK-N-MC	brain:	n/a
46	chrX:73640648-73640698	PFSK-1	brain:	n/a
47	chrX:73640648-73640698	HCT-116	colon:	n/a
48	chrX:73640648-73640698	Hepatocyte	liver:	n/a
49	chrX:73640648-73640698	SK-N-SH_RA	brain:	n/a
50	chrX:73640648-73640698	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:73639433..73642162-chrX:73672444..73675617,3	MCF-7	breast:
2	chrX:73639270..73641033-chrX:73663295..73665992,2	MCF-7	breast:

Variant related genes	Relation type
SLC16A2	TF binding region
SLC16A2	CpG island
ENSG00000264531	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3364045	chrX:72896383-73699363	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	301 gene(s)	inside rSNPs	diseases
2	nsv916758	chrX:73546406-74420929	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv532878	chrX:73603325-74057587	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv3429687	chrX:73639127-73643875	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73638800-73643200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chrX:73639200-73643000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chrX:73639200-73643000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chrX:73639200-73643000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chrX:73639400-73641000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chrX:73639400-73641400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chrX:73639400-73642000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chrX:73639400-73642400	Active TSS	A549	lung
9	chrX:73639400-73642800	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chrX:73639400-73642800	Active TSS	Pancreas	Pancrea
11	chrX:73639400-73643000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chrX:73639400-73643000	Active TSS	Muscle Satellite Cultured Cells	--
13	chrX:73639400-73643000	Active TSS	Brain Inferior Temporal Lobe	brain
14	chrX:73639400-73643000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chrX:73639400-73643000	Bivalent/Poised TSS	Fetal Stomach	stomach
16	chrX:73639400-73643000	Active TSS	NHLF	lung
17	chrX:73639400-73643200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chrX:73639400-73643200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chrX:73639400-73643200	Active TSS	Brain Cingulate Gyrus	brain
20	chrX:73639400-73643200	Active TSS	Fetal Kidney	kidney
21	chrX:73639400-73643200	Active TSS	NHDF-Ad	bronchial
22	chrX:73639400-73643400	Active TSS	H1 Cell Line	embryonic stem cell
23	chrX:73639400-73643400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chrX:73639400-73643400	Active TSS	Brain Germinal Matrix	brain
25	chrX:73639400-73643400	Active TSS	HSMMtube	muscle
26	chrX:73639400-73643800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chrX:73639600-73641200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chrX:73639600-73641600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chrX:73639600-73641800	Active TSS	Esophagus	oesophagus
30	chrX:73639600-73642200	Active TSS	Fetal Brain Female	brain
31	chrX:73639600-73642400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chrX:73639600-73642600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
33	chrX:73639600-73642600	Active TSS	Aorta	Aorta
34	chrX:73639600-73642800	Active TSS	H9 Cell Line	embryonic stem cell
35	chrX:73639600-73642800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chrX:73639600-73642800	Active TSS	Right Ventricle	heart
37	chrX:73639600-73643000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chrX:73639600-73643000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chrX:73639600-73643000	Active TSS	Brain Angular Gyrus	brain
40	chrX:73639600-73643000	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chrX:73639600-73643000	Active TSS	Fetal Lung	lung
42	chrX:73639600-73643000	Active TSS	Left Ventricle	heart
43	chrX:73639600-73643000	Active TSS	Ovary	ovary
44	chrX:73639600-73643000	Active TSS	Rectal Smooth Muscle	rectum
45	chrX:73639600-73643200	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chrX:73639600-73643400	Active TSS	Colon Smooth Muscle	Colon
47	chrX:73639600-73643600	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chrX:73639600-73643600	Active TSS	HSMM	muscle
49	chrX:73639800-73640800	Bivalent/Poised TSS	HepG2	liver
50	chrX:73639800-73641000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach

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