Variant report

Variant	rs188962851
Chromosome Location	chrX:153768809-153768810
allele	A/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	SIN3AK20	chrX:153768802-153770787	MCF-7	breast:	n/a	n/a
2	MAX	chrX:153768739-153772028	A549	lung:	n/a	chrX:153770830-153770840 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770407-153770417 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770831-153770840 chrX:153771225-153771238 chrX:153770303-153770312 chrX:153771225-153771238 chrX:153770831-153770841
3	MAX	chrX:153768763-153771510	HepG2	liver:	n/a	chrX:153770830-153770840 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770407-153770417 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770831-153770840 chrX:153771225-153771238 chrX:153770303-153770312 chrX:153771225-153771238 chrX:153770831-153770841
4	EP300	chrX:153768790-153769655	A549	lung:	n/a	chrX:153769195-153769211 chrX:153769371-153769381
5	POLR2A	chrX:153768761-153771924	PANC-1	pancreas:	n/a	n/a
6	CEBPB	chrX:153768647-153768936	HepG2	liver:	n/a	chrX:153768802-153768813
7	CEBPB	chrX:153768574-153769110	A549	lung:	n/a	chrX:153768802-153768813
8	CEBPB	chrX:153768620-153768991	A549	lung:	n/a	chrX:153768802-153768813
9	MAX	chrX:153768758-153771914	A549	lung:	n/a	chrX:153770830-153770840 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770407-153770417 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770831-153770840 chrX:153771225-153771238 chrX:153770303-153770312 chrX:153771225-153771238 chrX:153770831-153770841
10	GATA3	chrX:153768769-153771987	A549	lung:	n/a	chrX:153770715-153770725 chrX:153770811-153770821
11	SP1	chrX:153768703-153771949	A549	lung:	n/a	chrX:153770405-153770417 chrX:153770406-153770415 chrX:153769884-153769894 chrX:153770807-153770821 chrX:153769621-153769631 chrX:153769716-153769730
12	POLR2A	chrX:153768385-153777138	HepG2	liver:	n/a	n/a
13	TCF12	chrX:153768680-153772064	A549	lung:	n/a	chrX:153769728-153769735 chrX:153769371-153769380 chrX:153769491-153769501 chrX:153770861-153770871 chrX:153770042-153770049 chrX:153770413-153770423
14	CEBPB	chrX:153768587-153769091	MCF-7	breast:	n/a	chrX:153768802-153768813
15	CEBPB	chrX:153768744-153768876	HepG2	liver:	n/a	chrX:153768802-153768813
16	CEBPB	chrX:153768641-153768852	Hela-S3	cervix:	n/a	chrX:153768802-153768813

No.	Distal block	Cell Line	Cell type
1	chrX:153606027..153608677-chrX:153768704..153771299,2	MCF-7	breast:
2	chrX:153666975..153668910-chrX:153767855..153770854,2	MCF-7	breast:
3	chrX:153655481..153657852-chrX:153768778..153771748,2	MCF-7	breast:
4	chrX:153760244..153763093-chrX:153768256..153770323,2	K562	blood:
5	chrX:153597323..153603501-chrX:153767536..153771485,7	K562	blood:
6	chrX:153711537..153716459-chrX:153767417..153772470,5	K562	blood:
7	chrX:153743857..153745716-chrX:153768769..153770861,3	K562	blood:
8	chrX:153625830..153633897-chrX:153767392..153772063,11	K562	blood:
9	X:153657611-153671976..X:153755323-153771683	Hela-S3	cervix:
10	chrX:153597323..153599953-chrX:153767551..153771879,5	K562	blood:
11	chrX:153595797..153602112-chrX:153766071..153771136,12	MCF-7	breast:
12	chrX:153624391..153630513-chrX:153767458..153777755,28	MCF-7	breast:
13	chrX:153647962..153648876-chrX:153768790..153770430,11	MCF-7	breast:
14	chrX:153742627..153746314-chrX:153768128..153770916,5	MCF-7	breast:
15	chrX:153605631..153609024-chrX:153768272..153771518,4	MCF-7	breast:
16	chrX:153595658..153604095-chrX:153765725..153780258,40	MCF-7	breast:
17	X:153719993-153730954..X:153755323-153771683	K562	blood:
18	chrX:153625296..153629968-chrX:153767983..153777827,13	K562	blood:
19	X:153614328-153625659..X:153755323-153771683	K562	blood:
20	chrX:153713288..153721499-chrX:153767815..153773161,10	MCF-7	breast:

Variant related genes	Relation type
IKBKG	TF binding region
ENSG00000196924	Chromatin interaction
ENSG00000264783	Chromatin interaction
ENSG00000102178	Chromatin interaction
ENSG00000071553	Chromatin interaction
ENSG00000102119	Chromatin interaction
ENSG00000126903	Chromatin interaction
ENSG00000160211	Chromatin interaction
ENSG00000102125	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000013563	Chromatin interaction
ENSG00000071889	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000197180	Chromatin interaction
ENSG00000264631	Chromatin interaction
ENSG00000264484	Chromatin interaction
ENSG00000203879	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv995104	chrX:153731421-153832724	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	nsv933202	chrX:153762015-153783639	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
11	nsv916914	chrX:153767227-153774116	ZNF genes & repeats Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153755800-153769200	Weak transcription	Primary hematopoietic stem cells	blood
2	chrX:153755800-153769400	Weak transcription	Right Atrium	heart
3	chrX:153755800-153770000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chrX:153756000-153769000	Weak transcription	HUVEC	blood vessel
5	chrX:153756000-153770400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chrX:153756000-153770600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chrX:153756000-153770600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chrX:153756000-153774200	Weak transcription	Psoas Muscle	Psoas
9	chrX:153756000-153774800	Weak transcription	Aorta	Aorta
10	chrX:153756200-153770000	Weak transcription	Fetal Lung	lung
11	chrX:153759600-153769000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chrX:153761000-153769600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chrX:153762600-153769600	Weak transcription	Left Ventricle	heart
14	chrX:153762600-153770200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chrX:153762600-153770600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chrX:153762800-153771000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chrX:153762800-153774200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chrX:153762800-153774800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chrX:153763000-153769200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chrX:153763000-153770400	Weak transcription	GM12878-XiMat	blood
21	chrX:153763000-153774400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chrX:153763000-153774400	Weak transcription	Fetal Kidney	kidney
23	chrX:153763200-153769000	Weak transcription	Osteobl	bone
24	chrX:153763200-153769200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chrX:153763200-153770200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chrX:153763600-153769000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chrX:153763600-153769000	Weak transcription	Primary B cells from cord blood	blood
28	chrX:153763600-153769800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chrX:153763600-153769800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chrX:153763600-153770000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chrX:153763600-153770000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chrX:153763600-153770400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chrX:153763600-153771000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chrX:153763600-153773000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chrX:153763600-153774400	Weak transcription	Fetal Intestine Large	intestine
36	chrX:153763800-153769000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chrX:153763800-153769400	Weak transcription	NHDF-Ad	bronchial
38	chrX:153763800-153770000	Weak transcription	Gastric	stomach
39	chrX:153764200-153774600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chrX:153764400-153769000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chrX:153764400-153769000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chrX:153764400-153769000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chrX:153764400-153769000	Weak transcription	Esophagus	oesophagus
44	chrX:153764400-153769400	Weak transcription	Ovary	ovary
45	chrX:153764400-153769400	Weak transcription	Right Ventricle	heart
46	chrX:153764400-153769600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chrX:153764400-153769800	Weak transcription	Duodenum Mucosa	Duodenum
48	chrX:153764400-153770000	Weak transcription	Primary B cells from peripheral blood	blood
49	chrX:153764400-153770000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chrX:153764400-153770600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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