Variant report

Variant	rs185886425
Chromosome Location	chrX:153769817-153769818
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	SIN3AK20	chrX:153768802-153770787	MCF-7	breast:	n/a	n/a
2	RFX5	chrX:153769707-153769907	HepG2	liver:	n/a	n/a
3	JUND	chrX:153769411-153770662	A549	lung:	n/a	chrX:153770304-153770313 chrX:153770303-153770314 chrX:153769452-153769463 chrX:153770303-153770313 chrX:153769452-153769464 chrX:153770302-153770313 chrX:153769454-153769462 chrX:153769943-153769953 chrX:153769943-153769953 chrX:153770405-153770414
4	MAZ	chrX:153769068-153770807	HepG2	liver:	n/a	chrX:153770407-153770417 chrX:153770303-153770312
5	MAX	chrX:153769155-153770507	MCF-7	breast:	n/a	chrX:153770407-153770417 chrX:153770303-153770312
6	POLR2A	chrX:153768922-153771906	HepG2	liver:	n/a	n/a
7	JUN	chrX:153769448-153771117	K562	blood:	n/a	chrX:153770304-153770313 chrX:153770303-153770314 chrX:153770303-153770313 chrX:153769452-153769464 chrX:153769454-153769462 chrX:153769943-153769953 chrX:153769943-153769953 chrX:153770405-153770414
8	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
9	TFAP2A	chrX:153769342-153771315	Hela-S3	cervix:	n/a	chrX:153770304-153770313 chrX:153770746-153770758 chrX:153769453-153769462
10	MAX	chrX:153769256-153771811	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
11	TBP	chrX:153769057-153770748	HepG2	liver:	n/a	n/a
12	POLR2A	chrX:153769211-153770266	Hela-S3	cervix:	n/a	n/a
13	JUND	chrX:153769056-153770682	MCF-7	breast:	n/a	chrX:153770304-153770313 chrX:153770303-153770314 chrX:153769452-153769463 chrX:153770303-153770313 chrX:153769452-153769464 chrX:153770302-153770313 chrX:153769454-153769462 chrX:153769943-153769953 chrX:153769943-153769953 chrX:153770405-153770414
14	NR2F2	chrX:153769133-153770648	MCF-7	breast:	n/a	n/a
15	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
16	EP300	chrX:153769110-153770636	MCF-7	breast:	n/a	chrX:153769195-153769211 chrX:153770342-153770349 chrX:153770410-153770419 chrX:153769371-153769381
17	TEAD4	chrX:153769788-153770607	K562	blood:	n/a	n/a
18	POLR2A	chrX:153769196-153771829	HepG2	liver:	n/a	n/a
19	POLR2A	chrX:153768761-153771924	PANC-1	pancreas:	n/a	n/a
20	MAX	chrX:153769020-153771573	MCF-7	breast:	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
21	MAX	chrX:153769807-153771822	Hela-S3	cervix:	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
22	POLR2A	chrX:153769492-153771846	A549	lung:	n/a	n/a
23	SMARCC1	chrX:153769395-153771482	Hela-S3	cervix:	n/a	chrX:153769454-153769463 chrX:153770304-153770313
24	BCL3	chrX:153769056-153771948	A549	lung:	n/a	chrX:153770715-153770724 chrX:153770358-153770365
25	NR3C1	chrX:153769801-153770617	A549	lung:	n/a	chrX:153769933-153769948
26	ZNF217	chrX:153769175-153770349	MCF-7	breast:	n/a	n/a
27	POLR2A	chrX:153769230-153771521	Hela-S3	cervix:	n/a	n/a
28	SP1	chrX:153769024-153771802	A549	lung:	n/a	chrX:153770405-153770417 chrX:153770406-153770415 chrX:153769884-153769894 chrX:153770807-153770821 chrX:153769621-153769631 chrX:153769716-153769730
29	MAX	chrX:153769279-153771722	Hela-S3	cervix:	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
30	JUND	chrX:153769067-153771920	A549	lung:	n/a	chrX:153770304-153770313 chrX:153771857-153771868 chrX:153770303-153770314 chrX:153769452-153769463 chrX:153770303-153770313 chrX:153769452-153769464 chrX:153770302-153770313 chrX:153769454-153769462 chrX:153769943-153769953 chrX:153769943-153769953 chrX:153770405-153770414
31	EP300	chrX:153769752-153771668	A549	lung:	n/a	chrX:153770342-153770349 chrX:153770410-153770419
32	ELF1	chrX:153769797-153771054	A549	lung:	n/a	chrX:153770410-153770422
33	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
34	GATA3	chrX:153769760-153770967	A549	lung:	n/a	chrX:153770715-153770725 chrX:153770811-153770821
35	POLR2A	chrX:153769344-153771927	K562	blood:	n/a	n/a
36	POLR2A	chrX:153769053-153771895	HepG2	liver:	n/a	n/a
37	REST	chrX:153769098-153771924	A549	lung:	n/a	chrX:153771304-153771324 chrX:153771304-153771324 chrX:153771305-153771323 chrX:153771310-153771324 chrX:153771471-153771491 chrX:153771472-153771490
38	GATA3	chrX:153769001-153770921	MCF-7	breast:	n/a	chrX:153770715-153770725 chrX:153770811-153770821
39	GATA3	chrX:153768769-153771987	A549	lung:	n/a	chrX:153770715-153770725 chrX:153770811-153770821
40	MAZ	chrX:153769702-153770926	K562	blood:	n/a	chrX:153770830-153770840 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770407-153770417 chrX:153770830-153770841 chrX:153770831-153770840 chrX:153770831-153770840 chrX:153770303-153770312 chrX:153770831-153770841
41	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
42	POLR2A	chrX:153768869-153771866	MCF-7	breast:	n/a	n/a
43	JUND	chrX:153769272-153770547	Hela-S3	cervix:	n/a	chrX:153770304-153770313 chrX:153770303-153770314 chrX:153769452-153769463 chrX:153770303-153770313 chrX:153769452-153769464 chrX:153770302-153770313 chrX:153769454-153769462 chrX:153769943-153769953 chrX:153769943-153769953 chrX:153770405-153770414
44	POLR2A	chrX:153768813-153771887	PANC-1	pancreas:	n/a	n/a
45	ELF1	chrX:153769000-153769828	MCF-7	breast:	n/a	n/a
46	NR2F2	chrX:153769812-153770675	K562	blood:	n/a	n/a
47	POLR2A	chrX:153768385-153777138	HepG2	liver:	n/a	n/a
48	MXI1	chrX:153769808-153771443	Hela-S3	cervix:	n/a	chrX:153770832-153770841 chrX:153770830-153770839 chrX:153770830-153770839
49	ZBTB33	chrX:153769803-153770844	A549	lung:	n/a	n/a
50	BCL3	chrX:153768949-153771880	A549	lung:	n/a	chrX:153770715-153770724 chrX:153770358-153770365

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:153647929..153648925-chrX:153768826..153770417,9	MCF-7	breast:
7	chrX:153711537..153716459-chrX:153767417..153772470,5	K562	blood:
8	chrX:153743857..153745716-chrX:153768769..153770861,3	K562	blood:
9	chrX:153625830..153633897-chrX:153767392..153772063,11	K562	blood:
10	chrX:153639279..153641486-chrX:153769112..153771596,3	MCF-7	breast:
11	X:153657611-153671976..X:153755323-153771683	Hela-S3	cervix:
12	chrX:153597323..153599953-chrX:153767551..153771879,5	K562	blood:
13	chrX:153595797..153602112-chrX:153766071..153771136,12	MCF-7	breast:
14	chrX:153713383..153715797-chrX:153769453..153771661,2	K562	blood:
15	chrX:153769556..153770370-chrX:153878017..153878518,2	MCF-7	breast:
16	chrX:153739964..153747755-chrX:153769201..153779573,21	MCF-7	breast:
17	chrX:153624391..153630513-chrX:153767458..153777755,28	MCF-7	breast:
18	chrX:153602511..153603234-chrX:153769812..153770368,2	MCF-7	breast:
19	chr17:62500269..62502052-chrX:153769517..153771646,2	MCF-7	breast:
20	chrX:153718887..153719776-chrX:153768848..153769884,7	MCF-7	breast:
21	chrX:153647962..153648876-chrX:153768790..153770430,11	MCF-7	breast:
22	chrX:153742627..153746314-chrX:153768128..153770916,5	MCF-7	breast:
23	chrX:153605631..153609024-chrX:153768272..153771518,4	MCF-7	breast:
24	chrX:153236430..153239363-chrX:153768843..153770673,2	MCF-7	breast:
25	chrX:153595658..153604095-chrX:153765725..153780258,40	MCF-7	breast:
26	chrX:153769675..153772561-chrX:153778799..153782513,4	MCF-7	breast:
27	chrX:153743896..153747919-chrX:153768909..153770861,4	K562	blood:
28	X:153719993-153730954..X:153755323-153771683	K562	blood:
29	chrX:153625296..153629968-chrX:153767983..153777827,13	K562	blood:
30	X:153614328-153625659..X:153755323-153771683	K562	blood:
31	chrX:153713288..153721499-chrX:153767815..153773161,10	MCF-7	breast:

Variant related genes	Relation type
IKBKG	TF binding region
ENSG00000264631	Chromatin interaction
ENSG00000177854	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000172534	Chromatin interaction
ENSG00000071889	Chromatin interaction
ENSG00000102119	Chromatin interaction
ENSG00000203879	Chromatin interaction
ENSG00000102125	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000073009	Chromatin interaction
ENSG00000013563	Chromatin interaction
ENSG00000126903	Chromatin interaction
ENSG00000264783	Chromatin interaction
ENSG00000102178	Chromatin interaction
ENSG00000160211	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000197180	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000264484	Chromatin interaction
ENSG00000261773	Chromatin interaction
ENSG00000071553	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153755800-153770000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chrX:153756000-153770400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chrX:153756000-153770600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chrX:153756000-153770600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chrX:153756000-153774200	Weak transcription	Psoas Muscle	Psoas
6	chrX:153756000-153774800	Weak transcription	Aorta	Aorta
7	chrX:153756200-153770000	Weak transcription	Fetal Lung	lung
8	chrX:153762600-153770200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chrX:153762600-153770600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chrX:153762800-153771000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chrX:153762800-153774200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chrX:153762800-153774800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chrX:153763000-153770400	Weak transcription	GM12878-XiMat	blood
14	chrX:153763000-153774400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chrX:153763000-153774400	Weak transcription	Fetal Kidney	kidney
16	chrX:153763200-153770200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chrX:153763600-153770000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chrX:153763600-153770000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chrX:153763600-153770400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chrX:153763600-153771000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chrX:153763600-153773000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chrX:153763600-153774400	Weak transcription	Fetal Intestine Large	intestine
23	chrX:153763800-153770000	Weak transcription	Gastric	stomach
24	chrX:153764200-153774600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chrX:153764400-153770000	Weak transcription	Primary B cells from peripheral blood	blood
26	chrX:153764400-153770000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chrX:153764400-153770600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chrX:153764400-153770800	Weak transcription	Primary T cells from cord blood	blood
29	chrX:153764400-153771000	Weak transcription	Colonic Mucosa	Colon
30	chrX:153764400-153774200	Weak transcription	Pancreas	Pancrea
31	chrX:153764600-153774000	Weak transcription	Brain Germinal Matrix	brain
32	chrX:153766200-153770000	Weak transcription	Fetal Muscle Leg	muscle
33	chrX:153767800-153770000	Weak transcription	Brain Angular Gyrus	brain
34	chrX:153767800-153771600	Weak transcription	Brain Anterior Caudate	brain
35	chrX:153768600-153770000	Transcr. at gene 5' and 3'	A549	lung
36	chrX:153768600-153771800	ZNF genes & repeats	Fetal Stomach	stomach
37	chrX:153768800-153770000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chrX:153768800-153770000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chrX:153768800-153770000	Strong transcription	Fetal Thymus	thymus
40	chrX:153768800-153770200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chrX:153768800-153770600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chrX:153768800-153771000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chrX:153768800-153771800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chrX:153768800-153771800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chrX:153768800-153771800	Enhancers	Stomach Mucosa	stomach
46	chrX:153768800-153772000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
47	chrX:153768800-153772200	Strong transcription	H1 Cell Line	embryonic stem cell
48	chrX:153769000-153770000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chrX:153769000-153770200	Strong transcription	Thymus	Thymus
50	chrX:153769000-153770200	Genic enhancers	Spleen	Spleen

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