Variant report

Variant	rs369493145
Chromosome Location	chrX:153715131-153715132
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	MAX	chrX:153715072-153715243	K562	blood:	n/a	n/a
2	ZBTB7A	chrX:153714941-153715683	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chrX:153714769-153715320	GM18526	blood:	n/a	n/a
4	POLR2A	chrX:153714734-153715416	K562	blood:	n/a	n/a
5	E2F1	chrX:153714260-153715379	Hela-S3	cervix:	n/a	chrX:153714462-153714473 chrX:153715365-153715374 chrX:153715335-153715345
6	PML	chrX:153715075-153715651	GM12878	blood:	n/a	n/a
7	POLR2A	chrX:153715081-153715462	U87	brain:	n/a	n/a
8	GABPA	chrX:153715080-153715572	K562	blood:	n/a	n/a
9	TFAP2C	chrX:153714157-153715516	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chrX:153714321-153715577	HUVEC	blood vessel:	n/a	n/a
11	MXI1	chrX:153714812-153715330	HepG2	liver:	n/a	n/a
12	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
13	PAX5	chrX:153715116-153715621	GM12878	blood:	n/a	n/a
14	HA-E2F1	chrX:153714133-153715605	MCF-7	breast:	n/a	chrX:153714462-153714473 chrX:153715365-153715374 chrX:153715335-153715345
15	SIN3AK20	chrX:153714843-153715723	MCF-7	breast:	n/a	n/a
16	POLR2A	chrX:153714294-153715415	NB4	blood:	n/a	n/a
17	GATA3	chrX:153715074-153715526	MCF-7	breast:	n/a	n/a
18	POLR2A	chrX:153715098-153715634	GM12892	blood:	n/a	n/a
19	POLR2A	chrX:153714733-153715377	HEK293	kidney:	n/a	n/a
20	POLR2A	chrX:153714391-153715374	GM15510	blood:	n/a	n/a
21	PBX3	chrX:153715111-153715396	A549	lung:	n/a	n/a
22	POLR2A	chrX:153714414-153715477	GM12878	blood:	n/a	n/a
23	MAX	chrX:153714229-153715454	K562	blood:	n/a	chrX:153714814-153714824
24	HEY1	chrX:153715086-153715397	K562	blood:	n/a	n/a
25	HDAC2	chrX:153715074-153715522	MCF-7	breast:	n/a	n/a
26	POLR2A	chrX:153715057-153715653	K562	blood:	n/a	n/a
27	POLR2A	chrX:153715098-153715538	GM12892	blood:	n/a	n/a
28	POLR2A	chrX:153714752-153715573	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chrX:153714407-153715591	MCF-7	breast:	n/a	n/a
30	POLR2A	chrX:153715124-153715334	HepG2	liver:	n/a	n/a
31	MYC	chrX:153714193-153715404	K562	blood:	n/a	chrX:153714814-153714824
32	HEY1	chrX:153714729-153715345	HepG2	liver:	n/a	n/a
33	NR2F2	chrX:153714922-153715549	MCF-7	breast:	n/a	n/a
34	ELF1	chrX:153715120-153715465	K562	blood:	n/a	chrX:153715364-153715376
35	YY1	chrX:153714530-153715388	K562	blood:	n/a	chrX:153715365-153715379 chrX:153715291-153715305
36	CREB1	chrX:153714997-153715379	A549	lung:	n/a	n/a
37	MAZ	chrX:153714133-153715535	K562	blood:	n/a	chrX:153714814-153714824
38	MYC	chrX:153715078-153715485	MCF-7	breast:	n/a	n/a
39	CCNT2	chrX:153714196-153715464	K562	blood:	n/a	n/a
40	MXI1	chrX:153715124-153715312	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chrX:153715089-153715388	GM12878	blood:	n/a	n/a
42	NR3C1	chrX:153715115-153715306	ECC-1	luminal epithelium:	n/a	n/a
43	E2F6	chrX:153714182-153715322	K562	blood:	n/a	n/a
44	POLR2A	chrX:153715109-153715344	HepG2	liver:	n/a	n/a
45	EGR1	chrX:153714966-153715681	HCT-116	colon:	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
46	EGR1	chrX:153714979-153715565	ECC-1	luminal epithelium:	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
47	POLR2A	chrX:153714772-153715659	IMR90	lung:	n/a	n/a
48	EGR1	chrX:153715058-153715624	ECC-1	luminal epithelium:	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
49	MYC	chrX:153714224-153715354	NB4	blood:	n/a	chrX:153714814-153714824
50	POLR2A	chrX:153714683-153715513	HCT-116	colon:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:153715087-153715137	U87	brain:	n/a
2	chrX:153715087-153715137	A549	lung:	n/a
3	chrX:153715087-153715137	HRE	kidney:	n/a
4	chrX:153715087-153715137	HL-60	blood:	n/a
5	chrX:153715087-153715137	SKMC	muscle:	n/a
6	chrX:153715087-153715137	Caco-2	colon:	n/a
7	chrX:153715087-153715137	ECC-1	luminal epithelium:	n/a
8	chrX:153715087-153715137	GM12891	blood:	n/a
9	chrX:153715087-153715137	NT2-D1	testis:	n/a
10	chrX:153715087-153715137	MCF10A-Er-Src	breast:	n/a
11	chrX:153715087-153715137	HRPEpiC	eye:	n/a
12	chrX:153715087-153715137	HNPCEpiC	eye:	n/a
13	chrX:153715087-153715137	MCF-7	breast:	n/a
14	chrX:153715087-153715137	Hela-S3	cervix:	n/a
15	chrX:153715087-153715137	PrEC	prostate:	n/a
16	chrX:153715087-153715137	PFSK-1	brain:	n/a
17	chrX:153715087-153715137	GM06990	blood:	n/a
18	chrX:153715087-153715137	HEK293	kidney:	embryo
19	chrX:153715087-153715137	HIPEpiC	eye:	n/a
20	chrX:153715087-153715137	HMEC	breast:	n/a
21	chrX:153715087-153715137	NHDF-neo	bronchial:	n/a
22	chrX:153715087-153715137	HRCEpiC	kidney:	n/a
23	chrX:153715087-153715137	HCPEpiC	choroid plexus:	n/a
24	chrX:153715087-153715137	HAEpiC	amniotic membrane:	n/a
25	chrX:153715087-153715137	HepG2	liver:	n/a
26	chrX:153715087-153715137	Jurkat	blood:	n/a
27	chrX:153715087-153715137	SK-N-SH_RA	brain:	n/a
28	chrX:153715087-153715137	CMK	blood:	n/a
29	chrX:153715087-153715137	HCF	heart:	n/a
30	chrX:153715087-153715137	NHBE	bronchial:	n/a
31	chrX:153715087-153715137	AoSMC	blood vessel:	n/a
32	chrX:153715087-153715137	HUVEC	blood vessel:	n/a
33	chrX:153715087-153715137	AG09309	skin:	n/a
34	chrX:153715087-153715137	SAEC	small airway:	n/a
35	chrX:153715087-153715137	AG10803	skin:	n/a
36	chrX:153715087-153715137	IMR90	lung:	fetal
37	chrX:153715087-153715137	HEEpiC	esophagus:	n/a
38	chrX:153715087-153715137	AG09319	gingival:	n/a
39	chrX:153715087-153715137	RPTEC	kidney:	n/a
40	chrX:153715087-153715137	NH-A	brain:	n/a
41	chrX:153715087-153715137	BJ	skin:	n/a
42	chrX:153715087-153715137	SK-N-MC	brain:	n/a
43	chrX:153715087-153715137	K562	blood:	n/a
44	chrX:153715087-153715137	SK-N-SH	brain:	n/a
45	chrX:153715087-153715137	HPAEpiC	pulmonary alveolar:	n/a
46	chrX:153715087-153715137	NB4	blood:	n/a
47	chrX:153715087-153715137	ovcar-3	ovarian:	n/a
48	chrX:153715087-153715137	Hepatocyte	liver:	n/a
49	chrX:153715087-153715137	HCT-116	colon:	n/a
50	chrX:153715087-153715137	GM12878	blood:	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: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
UBL4A	CpG island
ENSG00000160211	Chromatin interaction
ENSG00000261773	Chromatin interaction
ENSG00000102119	Chromatin interaction
ENSG00000235802	Chromatin interaction
ENSG00000071553	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000203879	Chromatin interaction
ENSG00000130827	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000073009	Chromatin interaction
ENSG00000101132	Chromatin interaction
ENSG00000013563	Chromatin interaction
ENSG00000264631	Chromatin interaction
ENSG00000264484	Chromatin interaction
ENSG00000071859	Chromatin interaction
ENSG00000102125	Chromatin interaction
ENSG00000264783	Chromatin interaction
ENSG00000071889	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:153713400-153715200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chrX:153713800-153715400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chrX:153713800-153715400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chrX:153713800-153715600	Active TSS	Psoas Muscle	Psoas
7	chrX:153713800-153715600	Active TSS	HSMM	muscle
8	chrX:153714000-153715200	Active TSS	Brain Hippocampus Middle	brain
9	chrX:153714000-153715200	Active TSS	Right Ventricle	heart
10	chrX:153714000-153715400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chrX:153714000-153715400	Active TSS	Brain Substantia Nigra	brain
12	chrX:153714000-153715400	Active TSS	Left Ventricle	heart
13	chrX:153714000-153715400	Active TSS	NHDF-Ad	bronchial
14	chrX:153714000-153715600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chrX:153714000-153715600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chrX:153714000-153715600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chrX:153714000-153715600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chrX:153714000-153715600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chrX:153714000-153715600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chrX:153714000-153715600	Active TSS	Fetal Brain Female	brain
21	chrX:153714000-153715600	Active TSS	Rectal Smooth Muscle	rectum
22	chrX:153714000-153715800	Weak transcription	Fetal Heart	heart
23	chrX:153714000-153715800	Active TSS	Right Atrium	heart
24	chrX:153714200-153715200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chrX:153714200-153715200	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chrX:153714200-153715200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chrX:153714200-153715200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chrX:153714200-153715200	Active TSS	Colonic Mucosa	Colon
29	chrX:153714200-153715200	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chrX:153714200-153715200	Active TSS	K562	blood
31	chrX:153714200-153715400	Active TSS	H1 Cell Line	embryonic stem cell
32	chrX:153714200-153715400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chrX:153714200-153715400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chrX:153714200-153715400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chrX:153714200-153715400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chrX:153714200-153715400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chrX:153714200-153715400	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chrX:153714200-153715400	Active TSS	Muscle Satellite Cultured Cells	--
39	chrX:153714200-153715400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chrX:153714200-153715400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chrX:153714200-153715400	Active TSS	Aorta	Aorta
42	chrX:153714200-153715400	Active TSS	Brain Anterior Caudate	brain
43	chrX:153714200-153715400	Active TSS	Brain Cingulate Gyrus	brain
44	chrX:153714200-153715400	Active TSS	Colon Smooth Muscle	Colon
45	chrX:153714200-153715400	Active TSS	Duodenum Mucosa	Duodenum
46	chrX:153714200-153715400	Active TSS	Fetal Intestine Large	intestine
47	chrX:153714200-153715400	Active TSS	Fetal Intestine Small	intestine
48	chrX:153714200-153715400	Active TSS	Fetal Lung	lung
49	chrX:153714200-153715400	Active TSS	Lung	lung
50	chrX:153714200-153715400	Active TSS	Pancreas	Pancrea

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