Variant report

Variant	rs5945434
Chromosome Location	chrX:153715316-153715317
allele	C/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	ZBTB7A	chrX:153714941-153715683	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chrX:153714769-153715320	GM18526	blood:	n/a	n/a
3	POLR2A	chrX:153714734-153715416	K562	blood:	n/a	n/a
4	E2F1	chrX:153714260-153715379	Hela-S3	cervix:	n/a	chrX:153714462-153714473 chrX:153715365-153715374 chrX:153715335-153715345
5	PML	chrX:153715075-153715651	GM12878	blood:	n/a	n/a
6	BACH1	chrX:153715153-153715414	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chrX:153715081-153715462	U87	brain:	n/a	n/a
8	EGR1	chrX:153715229-153715526	GM12878	blood:	n/a	chrX:153715366-153715376 chrX:153715367-153715376 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
9	GABPA	chrX:153715080-153715572	K562	blood:	n/a	n/a
10	TFAP2C	chrX:153714157-153715516	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chrX:153714321-153715577	HUVEC	blood vessel:	n/a	n/a
12	MXI1	chrX:153714812-153715330	HepG2	liver:	n/a	n/a
13	EGR1	chrX:153714941-153715626	K562	blood:	n/a	chrX:153715366-153715376 chrX:153715367-153715376 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
14	PAX5	chrX:153715116-153715621	GM12878	blood:	n/a	n/a
15	HA-E2F1	chrX:153714133-153715605	MCF-7	breast:	n/a	chrX:153714462-153714473 chrX:153715365-153715374 chrX:153715335-153715345
16	SIN3AK20	chrX:153714843-153715723	MCF-7	breast:	n/a	n/a
17	POLR2A	chrX:153714294-153715415	NB4	blood:	n/a	n/a
18	GATA3	chrX:153715074-153715526	MCF-7	breast:	n/a	n/a
19	POLR2A	chrX:153715098-153715634	GM12892	blood:	n/a	n/a
20	POLR2A	chrX:153714733-153715377	HEK293	kidney:	n/a	n/a
21	TBL1XR1	chrX:153715279-153715511	GM12878	blood:	n/a	n/a
22	POLR2A	chrX:153714391-153715374	GM15510	blood:	n/a	n/a
23	PBX3	chrX:153715111-153715396	A549	lung:	n/a	n/a
24	POLR2A	chrX:153714414-153715477	GM12878	blood:	n/a	n/a
25	PAX5	chrX:153715292-153715520	GM12878	blood:	n/a	n/a
26	POLR2A	chrX:153715287-153715735	K562	blood:	n/a	n/a
27	MAX	chrX:153714229-153715454	K562	blood:	n/a	chrX:153714814-153714824
28	HEY1	chrX:153715086-153715397	K562	blood:	n/a	n/a
29	MYC	chrX:153715257-153715316	HUVEC	blood vessel:	n/a	n/a
30	HDAC2	chrX:153715074-153715522	MCF-7	breast:	n/a	n/a
31	TBL1XR1	chrX:153715161-153715497	K562	blood:	n/a	n/a
32	POLR2A	chrX:153715057-153715653	K562	blood:	n/a	n/a
33	POLR2A	chrX:153715098-153715538	GM12892	blood:	n/a	n/a
34	POLR2A	chrX:153714752-153715573	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chrX:153714407-153715591	MCF-7	breast:	n/a	n/a
36	POLR2A	chrX:153715124-153715334	HepG2	liver:	n/a	n/a
37	MYC	chrX:153714193-153715404	K562	blood:	n/a	chrX:153714814-153714824
38	HEY1	chrX:153714729-153715345	HepG2	liver:	n/a	n/a
39	NR2F2	chrX:153714922-153715549	MCF-7	breast:	n/a	n/a
40	ELF1	chrX:153715120-153715465	K562	blood:	n/a	chrX:153715364-153715376
41	NFIC	chrX:153715286-153715580	GM12878	blood:	n/a	n/a
42	YY1	chrX:153714530-153715388	K562	blood:	n/a	chrX:153715365-153715379 chrX:153715291-153715305
43	CREB1	chrX:153714997-153715379	A549	lung:	n/a	n/a
44	MAZ	chrX:153714133-153715535	K562	blood:	n/a	chrX:153714814-153714824
45	MYC	chrX:153715078-153715485	MCF-7	breast:	n/a	n/a
46	ZNF263	chrX:153715204-153715392	HEK293-T-REx	kidney:	n/a	chrX:153715262-153715283
47	MXI1	chrX:153715168-153715574	GM12878	blood:	n/a	n/a
48	CCNT2	chrX:153714196-153715464	K562	blood:	n/a	n/a
49	POLR2A	chrX:153715089-153715388	GM12878	blood:	n/a	n/a
50	E2F6	chrX:153714182-153715322	K562	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:153715077..153717508-chrX:153733605..153735142,2	K562	blood:
4	chrX:153711537..153716459-chrX:153767417..153772470,5	K562	blood:
5	chrX:153712862..153716379-chrX:153773449..153776383,5	MCF-7	breast:
6	chrX:153605453..153609525-chrX:153712051..153716179,6	MCF-7	breast:
7	chrX:153605593..153609893-chrX:153711571..153716768,6	K562	blood:
8	X:153657611-153671976..X:153701576-153715648	Hela-S3	cervix:
9	chr20:52824614..52827050-chrX:153713627..153715899,2	MCF-7	breast:
10	chrX:153624545..153632466-chrX:153709449..153721332,27	K562	blood:
11	chrX:153713288..153721499-chrX:153767815..153773161,10	MCF-7	breast:
12	chrX:153697571..153703616-chrX:153709529..153715825,8	MCF-7	breast:
13	chrX:153648825..153650484-chrX:153715123..153717815,2	MCF-7	breast:
14	chrX:153691004..153695395-chrX:153711545..153717567,7	MCF-7	breast:
15	chrX:153624383..153633652-chrX:153704408..153721325,48	MCF-7	breast:
16	chrX:153624542..153632362-chrX:153710560..153721332,23	K562	blood:
17	chrX:153639142..153641724-chrX:153713465..153715375,4	MCF-7	breast:
18	chrX:153711592..153716888-chrX:153760694..153766504,10	MCF-7	breast:
19	chrX:153713355..153716352-chrX:153738180..153740001,2	K562	blood:
20	chrX:153713383..153715797-chrX:153769453..153771661,2	K562	blood:
21	chrX:153598007..153604368-chrX:153709391..153720590,15	MCF-7	breast:
22	chrX:153711607..153725784-chrX:153738770..153748754,27	K562	blood:
23	chrX:153635755..153638655-chrX:153711241..153715335,3	K562	blood:
24	chrX:153714637..153717614-chrX:153774027..153776587,2	K562	blood:
25	chrX:153711367..153718079-chrX:153742298..153748484,13	K562	blood:
26	chrX:153596460..153601893-chrX:153713560..153721410,16	MCF-7	breast:
27	chrX:153576705..153579564-chrX:153713461..153716046,2	MCF-7	breast:
28	chrX:153684734..153690386-chrX:153710045..153718317,11	K562	blood:
29	chrX:153661692..153667668-chrX:153711020..153716574,8	MCF-7	breast:
30	chrX:153669908..153672690-chrX:153713868..153717711,4	MCF-7	breast:
31	chrX:153713080..153721291-chrX:153722442..153727868,15	K562	blood:
32	chrX:153684737..153690252-chrX:153712522..153716734,15	MCF-7	breast:
33	chrX:153237789..153240120-chrX:153715311..153716819,2	MCF-7	breast:
34	chrX:153234477..153236480-chrX:153714089..153717072,2	K562	blood:
35	chrX:153601928..153604764-chrX:153713001..153716367,3	MCF-7	breast:
36	chrX:153639079..153641453-chrX:153714284..153716430,2	K562	blood:

Variant related genes	Relation type
UBL4A	TF binding region
ENSG00000073009	Chromatin interaction
ENSG00000264484	Chromatin interaction
ENSG00000071553	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000071859	Chromatin interaction
ENSG00000013563	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000102125	Chromatin interaction
ENSG00000203879	Chromatin interaction
ENSG00000130827	Chromatin interaction
ENSG00000264783	Chromatin interaction
ENSG00000264631	Chromatin interaction
ENSG00000177854	Chromatin interaction
ENSG00000071889	Chromatin interaction
ENSG00000160211	Chromatin interaction
ENSG00000102119	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000261773	Chromatin interaction
ENSG00000101132	Chromatin interaction
ENSG00000235802	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1050047	1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.85[TSI][hapmap]
rs12392447	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs2315325	0.86[CHB][hapmap];0.86[GIH][hapmap];0.90[TSI][hapmap]
rs4542114	0.86[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap]
rs5945195	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5945429	1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap]
rs5945431	0.86[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap]
rs5945433	1.00[CHB][hapmap]
rs5986979	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs5986981	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap]
rs5987267	1.00[CHB][hapmap]
rs7051615	1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.85[TSI][hapmap]
rs7057286	1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.85[TSI][hapmap]
rs7886727	1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap]

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:153713800-153715400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chrX:153713800-153715400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chrX:153713800-153715600	Active TSS	Psoas Muscle	Psoas
6	chrX:153713800-153715600	Active TSS	HSMM	muscle
7	chrX:153714000-153715400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chrX:153714000-153715400	Active TSS	Brain Substantia Nigra	brain
9	chrX:153714000-153715400	Active TSS	Left Ventricle	heart
10	chrX:153714000-153715400	Active TSS	NHDF-Ad	bronchial
11	chrX:153714000-153715600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chrX:153714000-153715600	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chrX:153714000-153715600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chrX:153714000-153715600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chrX:153714000-153715600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chrX:153714000-153715600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chrX:153714000-153715600	Active TSS	Fetal Brain Female	brain
18	chrX:153714000-153715600	Active TSS	Rectal Smooth Muscle	rectum
19	chrX:153714000-153715800	Weak transcription	Fetal Heart	heart
20	chrX:153714000-153715800	Active TSS	Right Atrium	heart
21	chrX:153714200-153715400	Active TSS	H1 Cell Line	embryonic stem cell
22	chrX:153714200-153715400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chrX:153714200-153715400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chrX:153714200-153715400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chrX:153714200-153715400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chrX:153714200-153715400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chrX:153714200-153715400	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chrX:153714200-153715400	Active TSS	Muscle Satellite Cultured Cells	--
29	chrX:153714200-153715400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chrX:153714200-153715400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chrX:153714200-153715400	Active TSS	Aorta	Aorta
32	chrX:153714200-153715400	Active TSS	Brain Anterior Caudate	brain
33	chrX:153714200-153715400	Active TSS	Brain Cingulate Gyrus	brain
34	chrX:153714200-153715400	Active TSS	Colon Smooth Muscle	Colon
35	chrX:153714200-153715400	Active TSS	Duodenum Mucosa	Duodenum
36	chrX:153714200-153715400	Active TSS	Fetal Intestine Large	intestine
37	chrX:153714200-153715400	Active TSS	Fetal Intestine Small	intestine
38	chrX:153714200-153715400	Active TSS	Fetal Lung	lung
39	chrX:153714200-153715400	Active TSS	Lung	lung
40	chrX:153714200-153715400	Active TSS	Pancreas	Pancrea
41	chrX:153714200-153715400	Active TSS	Rectal Mucosa Donor 31	rectum
42	chrX:153714200-153715400	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chrX:153714200-153715400	Active TSS	Small Intestine	intestine
44	chrX:153714200-153715400	Active TSS	A549	lung
45	chrX:153714200-153715400	Active TSS	GM12878-XiMat	blood
46	chrX:153714200-153715400	Active TSS	Hela-S3	cervix
47	chrX:153714200-153715400	Active TSS	HepG2	liver
48	chrX:153714200-153715400	Active TSS	HSMMtube	muscle
49	chrX:153714200-153715400	Active TSS	NHLF	lung
50	chrX:153714200-153715400	Active TSS	Osteobl	bone

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