Variant report

Variant	rs113048566
Chromosome Location	chrX:153714712-153714713
allele	G/T
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	POLR2A	chrX:153714447-153714971	PBDE	blood:	n/a	n/a
2	E2F1	chrX:153714260-153715379	Hela-S3	cervix:	n/a	chrX:153714462-153714473 chrX:153715365-153715374 chrX:153715335-153715345
3	TFAP2C	chrX:153714157-153715516	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chrX:153714321-153715577	HUVEC	blood vessel:	n/a	n/a
5	HA-E2F1	chrX:153714133-153715605	MCF-7	breast:	n/a	chrX:153714462-153714473 chrX:153715365-153715374 chrX:153715335-153715345
6	POLR2A	chrX:153714294-153715415	NB4	blood:	n/a	n/a
7	POLR2A	chrX:153714391-153715374	GM15510	blood:	n/a	n/a
8	POLR2A	chrX:153714414-153715477	GM12878	blood:	n/a	n/a
9	POLR2A	chrX:153714333-153715059	A549	lung:	n/a	n/a
10	MAX	chrX:153714229-153715454	K562	blood:	n/a	chrX:153714814-153714824
11	POLR2A	chrX:153714321-153715028	GM12878	blood:	n/a	n/a
12	E2F6	chrX:153714091-153715066	K562	blood:	n/a	n/a
13	POLR2A	chrX:153714407-153715591	MCF-7	breast:	n/a	n/a
14	MYC	chrX:153714193-153715404	K562	blood:	n/a	chrX:153714814-153714824
15	YY1	chrX:153714530-153715388	K562	blood:	n/a	chrX:153715365-153715379 chrX:153715291-153715305
16	MAZ	chrX:153714133-153715535	K562	blood:	n/a	chrX:153714814-153714824
17	CCNT2	chrX:153714196-153715464	K562	blood:	n/a	n/a
18	POLR2A	chrX:153714284-153715031	GM12878	blood:	n/a	n/a
19	E2F6	chrX:153714182-153715322	K562	blood:	n/a	n/a
20	MYC	chrX:153714224-153715354	NB4	blood:	n/a	chrX:153714814-153714824
21	POLR2A	chrX:153714683-153715513	HCT-116	colon:	n/a	n/a
22	POLR2A	chrX:153714682-153715064	HUVEC	blood vessel:	n/a	n/a
23	MAZ	chrX:153713615-153715759	IMR90	lung:	n/a	chrX:153714814-153714824 chrX:153715603-153715612 chrX:153714026-153714036
24	SIN3AK20	chrX:153714654-153715535	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chrX:153714162-153715601	MCF-7	breast:	n/a	n/a
26	TAF1	chrX:153714536-153715062	HepG2	liver:	n/a	n/a
27	HMGN3	chrX:153714195-153715454	K562	blood:	n/a	n/a
28	MAX	chrX:153714099-153715450	A549	lung:	n/a	chrX:153714814-153714824
29	POLR2A	chrX:153714572-153715512	MCF-7	breast:	n/a	n/a
30	E2F6	chrX:153714024-153714816	A549	lung:	n/a	n/a
31	HEY1	chrX:153714506-153714945	K562	blood:	n/a	n/a
32	UBTF	chrX:153712832-153715455	K562	blood:	n/a	n/a
33	POLR2A	chrX:153714050-153715008	K562	blood:	n/a	n/a
34	MYC	chrX:153714243-153715306	K562	blood:	n/a	chrX:153714814-153714824
35	POLR2A	chrX:153714706-153715313	Gliobla	brain:	n/a	n/a
36	ELF1	chrX:153714151-153714718	GM12878	blood:	n/a	n/a
37	MAX	chrX:153713972-153715545	A549	lung:	n/a	chrX:153714814-153714824 chrX:153714026-153714036
38	POLR2A	chrX:153714455-153715382	GM19193	blood:	n/a	n/a
39	MAZ	chrX:153714629-153715320	Hela-S3	cervix:	n/a	chrX:153714814-153714824
40	MAX	chrX:153714218-153714865	NB4	blood:	n/a	chrX:153714814-153714824
41	EGR1	chrX:153714576-153714880	K562	blood:	n/a	chrX:153714777-153714787 chrX:153714793-153714806 chrX:153714708-153714718
42	POLR2A	chrX:153711052-153715893	K562	blood:	n/a	n/a
43	HA-E2F1	chrX:153714253-153715486	Hela-S3	cervix:	n/a	chrX:153714462-153714473 chrX:153715365-153715374 chrX:153715335-153715345
44	HEY1	chrX:153714685-153714978	K562	blood:	n/a	n/a
45	POLR2A	chrX:153712367-153715675	K562	blood:	n/a	n/a
46	EGR1	chrX:153714518-153715628	K562	blood:	n/a	chrX:153715366-153715376 chrX:153714777-153714787 chrX:153715367-153715376 chrX:153714793-153714806 chrX:153715365-153715379 chrX:153715363-153715377 chrX:153715288-153715298 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715289-153715298 chrX:153715288-153715301 chrX:153715366-153715379 chrX:153715367-153715377 chrX:153715194-153715216 chrX:153714708-153714718
47	POLR2A	chrX:153712571-153715656	HepG2	liver:	n/a	n/a
48	MAX	chrX:153714230-153715352	Hela-S3	cervix:	n/a	chrX:153714814-153714824
49	MAX	chrX:153714224-153714723	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chrX:153714359-153715353	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:153644453..153647083-chrX:153713946..153716046,3	MCF-7	breast:
2	chrX:153711098..153721097-chrX:153740825..153747830,28	MCF-7	breast:
3	chrX:153711537..153716459-chrX:153767417..153772470,5	K562	blood:
4	chrX:153712862..153716379-chrX:153773449..153776383,5	MCF-7	breast:
5	chrX:153605453..153609525-chrX:153712051..153716179,6	MCF-7	breast:
6	chrX:153605593..153609893-chrX:153711571..153716768,6	K562	blood:
7	X:153657611-153671976..X:153701576-153715648	Hela-S3	cervix:
8	chr20:52824614..52827050-chrX:153713627..153715899,2	MCF-7	breast:
9	chrX:153624545..153632466-chrX:153709449..153721332,27	K562	blood:
10	chrX:153713288..153721499-chrX:153767815..153773161,10	MCF-7	breast:
11	chrX:153697571..153703616-chrX:153709529..153715825,8	MCF-7	breast:
12	chrX:153691004..153695395-chrX:153711545..153717567,7	MCF-7	breast:
13	chrX:153624383..153633652-chrX:153704408..153721325,48	MCF-7	breast:
14	chrX:153624542..153632362-chrX:153710560..153721332,23	K562	blood:
15	chrX:153639142..153641724-chrX:153713465..153715375,4	MCF-7	breast:
16	chrX:153711592..153716888-chrX:153760694..153766504,10	MCF-7	breast:
17	chrX:153713355..153716352-chrX:153738180..153740001,2	K562	blood:
18	chrX:153674318..153677222-chrX:153712203..153714813,3	K562	blood:
19	chrX:153713383..153715797-chrX:153769453..153771661,2	K562	blood:
20	chrX:153598007..153604368-chrX:153709391..153720590,15	MCF-7	breast:
21	chrX:153711607..153725784-chrX:153738770..153748754,27	K562	blood:
22	chrX:153635755..153638655-chrX:153711241..153715335,3	K562	blood:
23	chrX:153714637..153717614-chrX:153774027..153776587,2	K562	blood:
24	chrX:153711367..153718079-chrX:153742298..153748484,13	K562	blood:
25	chrX:153596460..153601893-chrX:153713560..153721410,16	MCF-7	breast:
26	chrX:153576705..153579564-chrX:153713461..153716046,2	MCF-7	breast:
27	chrX:153684734..153690386-chrX:153710045..153718317,11	K562	blood:
28	chrX:153661692..153667668-chrX:153711020..153716574,8	MCF-7	breast:
29	chrX:153669908..153672690-chrX:153713868..153717711,4	MCF-7	breast:
30	chrX:153713080..153721291-chrX:153722442..153727868,15	K562	blood:
31	chrX:153684737..153690252-chrX:153712522..153716734,15	MCF-7	breast:
32	chr16:31190898..31191887-chrX:153714080..153715002,2	Hela-S3	cervix:
33	chrX:153234477..153236480-chrX:153714089..153717072,2	K562	blood:
34	chrX:153601928..153604764-chrX:153713001..153716367,3	MCF-7	breast:
35	chrX:153639079..153641453-chrX:153714284..153716430,2	K562	blood:

Variant related genes	Relation type
UBL4A	TF binding region
ENSG00000102125	Chromatin interaction
ENSG00000261773	Chromatin interaction
ENSG00000264783	Chromatin interaction
ENSG00000264484	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000235802	Chromatin interaction
ENSG00000013563	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000073009	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000071859	Chromatin interaction
ENSG00000102119	Chromatin interaction
ENSG00000130827	Chromatin interaction
ENSG00000071889	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000264631	Chromatin interaction
ENSG00000160211	Chromatin interaction
ENSG00000203879	Chromatin interaction
ENSG00000071553	Chromatin interaction
ENSG00000101132	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv530281	chrX:153622940-153783184	Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
8	nsv532964	chrX:153622940-153854307	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
9	esv3433124	chrX:153714108-153716206	Flanking Active TSS Genic enhancers Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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:153710200-153719600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chrX:153711400-153718600	ZNF genes & repeats	Fetal Stomach	stomach
3	chrX:153713200-153714800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chrX:153713400-153715200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chrX:153713800-153715400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chrX:153713800-153715400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chrX:153713800-153715600	Active TSS	Psoas Muscle	Psoas
8	chrX:153713800-153715600	Active TSS	HSMM	muscle
9	chrX:153714000-153714800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chrX:153714000-153714800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chrX:153714000-153715200	Active TSS	Brain Hippocampus Middle	brain
12	chrX:153714000-153715200	Active TSS	Right Ventricle	heart
13	chrX:153714000-153715400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chrX:153714000-153715400	Active TSS	Brain Substantia Nigra	brain
15	chrX:153714000-153715400	Active TSS	Left Ventricle	heart
16	chrX:153714000-153715400	Active TSS	NHDF-Ad	bronchial
17	chrX:153714000-153715600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chrX:153714000-153715600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chrX:153714000-153715600	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chrX:153714000-153715600	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chrX:153714000-153715600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chrX:153714000-153715600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chrX:153714000-153715600	Active TSS	Fetal Brain Female	brain
24	chrX:153714000-153715600	Active TSS	Rectal Smooth Muscle	rectum
25	chrX:153714000-153715800	Weak transcription	Fetal Heart	heart
26	chrX:153714000-153715800	Active TSS	Right Atrium	heart
27	chrX:153714200-153714800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chrX:153714200-153714800	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chrX:153714200-153714800	Active TSS	Fetal Kidney	kidney
30	chrX:153714200-153715200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chrX:153714200-153715200	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chrX:153714200-153715200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chrX:153714200-153715200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chrX:153714200-153715200	Active TSS	Colonic Mucosa	Colon
35	chrX:153714200-153715200	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chrX:153714200-153715200	Active TSS	K562	blood
37	chrX:153714200-153715400	Active TSS	H1 Cell Line	embryonic stem cell
38	chrX:153714200-153715400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chrX:153714200-153715400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chrX:153714200-153715400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chrX:153714200-153715400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chrX:153714200-153715400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chrX:153714200-153715400	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chrX:153714200-153715400	Active TSS	Muscle Satellite Cultured Cells	--
45	chrX:153714200-153715400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chrX:153714200-153715400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chrX:153714200-153715400	Active TSS	Aorta	Aorta
48	chrX:153714200-153715400	Active TSS	Brain Anterior Caudate	brain
49	chrX:153714200-153715400	Active TSS	Brain Cingulate Gyrus	brain
50	chrX:153714200-153715400	Active TSS	Colon Smooth Muscle	Colon

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