Variant report

Variant	rs12007167
Chromosome Location	chrX:153592201-153592202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chrX:153592076-153592335	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chrX:153592099-153599779	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chrX:153592095-153592415	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chrX:153592105-153592426	K562	blood:	n/a	n/a
5	POLR2A	chrX:153592005-153599772	GM12878	blood:	n/a	n/a
6	POLR2A	chrX:153592058-153592337	U87	brain:	n/a	n/a
7	POLR2A	chrX:153592032-153601467	GM12892	blood:	n/a	n/a
8	POLR2A	chrX:153592058-153592378	U87	brain:	n/a	n/a
9	POLR2A	chrX:153591801-153598985	U87	brain:	n/a	n/a
10	POLR2A	chrX:153592094-153595347	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chrX:153592083-153600058	K562	blood:	n/a	n/a
12	POLR2A	chrX:153592149-153594474	K562	blood:	n/a	n/a
13	POLR2A	chrX:153592121-153593721	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chrX:153592199-153592682	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chrX:153592103-153593409	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chrX:153592084-153596144	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chrX:153591991-153595865	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chrX:153592082-153594092	GM12892	blood:	n/a	n/a
19	POLR2A	chrX:153592156-153592690	HepG2	liver:	n/a	n/a
20	POLR2A	chrX:153592186-153592678	GM12892	blood:	n/a	n/a
21	POLR2A	chrX:153592028-153600292	K562	blood:	n/a	n/a
22	POLR2A	chrX:153592104-153599761	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chrX:153592081-153594099	GM12892	blood:	n/a	n/a
24	POLR2A	chrX:153591858-153600815	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chrX:153592071-153592574	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chrX:153592114-153595625	HL-60	blood:	n/a	n/a
27	POLR2A	chrX:153592099-153598720	A549	lung:	n/a	n/a
28	POLR2A	chrX:153591864-153600710	U87	brain:	n/a	n/a
29	POLR2A	chrX:153592123-153593383	ProgFib	skin:	n/a	n/a
30	POLR2A	chrX:153592085-153600048	K562	blood:	n/a	n/a
31	POLR2A	chrX:153592099-153592897	K562	blood:	n/a	n/a
32	POLR2A	chrX:153591956-153600830	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chrX:153592155-153592551	MCF-7	breast:	n/a	n/a
34	POLR2A	chrX:153592092-153592821	PANC-1	pancreas:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	X:153586280-153597086..X:153719993-153730954	Hela-S3	cervix:
2	X:153586280-153597086..X:154053104-154056925	K562	blood:
3	X:153586280-153597086..X:153614328-153625659	Hela-S3	cervix:
4	X:153586280-153597086..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
5	chrX:153589749..153593793-chrX:153626284..153628213,4	MCF-7	breast:

No data

Variant related genes	Relation type
FLNA	TF binding region
ENSG00000147403	Chromatin interaction
ENSG00000071553	Chromatin interaction
ENSG00000203879	Chromatin interaction
ENSG00000264783	Chromatin interaction
ENSG00000203870	Chromatin interaction
ENSG00000264631	Chromatin interaction
ENSG00000264484	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11593	1.00[ASW][hapmap];0.93[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap]
rs12559	1.00[YRI][hapmap]
rs12877	1.00[YRI][hapmap]
rs17426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17428	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap]
rs2070807	0.90[ASW][hapmap]
rs2070816	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap]
rs2070822	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap]
rs2239469	1.00[YRI][hapmap]
rs2239470	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs28602900	0.90[ASW][hapmap]
rs2872817	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.95[TSI][hapmap]
rs4446899	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap]
rs4898478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4898479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5945185	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs5945413	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs5945423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6727	0.82[YRI][hapmap]
rs915943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531228	chrX:152864376-153609161	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv531227	chrX:152864376-153655730	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
3	esv33199	chrX:152864376-153820241	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	276 gene(s)	inside rSNPs	diseases
4	nsv528291	chrX:152864376-153827637	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	277 gene(s)	inside rSNPs	diseases
5	nsv529439	chrX:153333946-153595528	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
6	nsv932632	chrX:153333946-153623000	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	nsv531232	chrX:153333946-153626120	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
8	nsv531233	chrX:153333946-153626120	Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
9	nsv523072	chrX:153333946-153626738	Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
10	nsv915605	chrX:153333946-153783638	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
11	nsv519042	chrX:153348431-153829693	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
12	nsv532962	chrX:153564946-153870337	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	199 gene(s)	inside rSNPs	diseases
13	nsv9999	chrX:153567427-153621413	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
14	nsv532963	chrX:153576890-153822717	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription 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 miRNA miRNA target site	195 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:153576000-153596000	Weak transcription	Primary hematopoietic stem cells	blood
2	chrX:153576200-153595800	Weak transcription	Right Atrium	heart
3	chrX:153576200-153596600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chrX:153576400-153599400	ZNF genes & repeats	Fetal Stomach	stomach
5	chrX:153576600-153593400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chrX:153576600-153593600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chrX:153576600-153595200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chrX:153576600-153595200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chrX:153576600-153595400	Strong transcription	Osteobl	bone
10	chrX:153576600-153595800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chrX:153576600-153596400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chrX:153576600-153596400	Strong transcription	Thymus	Thymus
13	chrX:153576600-153596600	Strong transcription	H1 Cell Line	embryonic stem cell
14	chrX:153576600-153596600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chrX:153576600-153596800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chrX:153576600-153598800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
17	chrX:153576600-153599800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chrX:153576800-153592600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chrX:153576800-153592600	Strong transcription	NHLF	lung
20	chrX:153576800-153594000	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chrX:153576800-153594600	Strong transcription	Muscle Satellite Cultured Cells	--
22	chrX:153576800-153596000	Strong transcription	Brain Germinal Matrix	brain
23	chrX:153576800-153596000	Strong transcription	Placenta Amnion	Placenta Amnion
24	chrX:153576800-153603600	ZNF genes & repeats	Fetal Brain Female	brain
25	chrX:153577000-153595200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chrX:153577000-153595600	Strong transcription	Aorta	Aorta
27	chrX:153577200-153594400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chrX:153577200-153594400	Strong transcription	Dnd41	blood
29	chrX:153577200-153594600	Strong transcription	Adipose Nuclei	Adipose
30	chrX:153577200-153595600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chrX:153577400-153595000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chrX:153577400-153596000	Strong transcription	Ovary	ovary
33	chrX:153577600-153594400	Strong transcription	Left Ventricle	heart
34	chrX:153577600-153595200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chrX:153577800-153593400	Strong transcription	Fetal Muscle Leg	muscle
36	chrX:153578000-153596800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chrX:153578200-153595200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chrX:153579400-153596800	Strong transcription	Fetal Intestine Small	intestine
39	chrX:153580200-153595400	Strong transcription	Gastric	stomach
40	chrX:153580200-153595800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chrX:153580200-153596400	Genic enhancers	Primary T cells fromperipheralblood	blood
42	chrX:153580200-153598200	Weak transcription	Stomach Mucosa	stomach
43	chrX:153581000-153594800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chrX:153581000-153596000	Strong transcription	Colonic Mucosa	Colon
45	chrX:153581200-153594200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chrX:153581200-153595800	Weak transcription	Primary B cells from cord blood	blood
47	chrX:153581200-153596400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chrX:153581400-153595000	Strong transcription	Esophagus	oesophagus
49	chrX:153581600-153596600	Weak transcription	Fetal Brain Male	brain
50	chrX:153582000-153594800	Strong transcription	Primary B cells from peripheral blood	blood

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