Variant report

Variant	rs182957060
Chromosome Location	chrX:153769446-153769447
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	ELF1	chrX:153769065-153769758	MCF-7	breast:	n/a	n/a
2	FOXA1	chrX:153769117-153769615	HepG2	liver:	n/a	n/a
3	MAFF	chrX:153769369-153769574	K562	blood:	n/a	n/a
4	SIN3AK20	chrX:153768802-153770787	MCF-7	breast:	n/a	n/a
5	GATA3	chrX:153769223-153769637	T-47D	breast:	n/a	n/a
6	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
7	MAZ	chrX:153769068-153770807	HepG2	liver:	n/a	chrX:153770407-153770417 chrX:153770303-153770312
8	EP300	chrX:153769223-153769712	T-47D	breast:	n/a	chrX:153769371-153769381
9	MAX	chrX:153769155-153770507	MCF-7	breast:	n/a	chrX:153770407-153770417 chrX:153770303-153770312
10	POLR2A	chrX:153768922-153771906	HepG2	liver:	n/a	n/a
11	MAFK	chrX:153769243-153769752	HepG2	liver:	n/a	chrX:153769452-153769461 chrX:153769447-153769462 chrX:153769452-153769462
12	MYBL2	chrX:153769137-153769641	HepG2	liver:	n/a	n/a
13	CHD2	chrX:153769297-153769691	HepG2	liver:	n/a	n/a
14	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
15	TFAP2A	chrX:153769342-153771315	Hela-S3	cervix:	n/a	chrX:153770304-153770313 chrX:153770746-153770758 chrX:153769453-153769462
16	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
17	POLR2A	chrX:153769180-153769617	HepG2	liver:	n/a	n/a
18	FOXA1	chrX:153769237-153769657	T-47D	breast:	n/a	n/a
19	RCOR1	chrX:153769245-153769548	HepG2	liver:	n/a	n/a
20	ESR1	chrX:153769205-153769644	T-47D	breast:	n/a	n/a
21	TBP	chrX:153769057-153770748	HepG2	liver:	n/a	n/a
22	EP300	chrX:153769134-153769625	HepG2	liver:	n/a	chrX:153769195-153769211 chrX:153769371-153769381
23	FOXA2	chrX:153769130-153769620	A549	lung:	n/a	n/a
24	EP300	chrX:153769279-153769529	Hela-S3	cervix:	n/a	chrX:153769371-153769381
25	MAFK	chrX:153769308-153769561	K562	blood:	n/a	chrX:153769452-153769461 chrX:153769447-153769462 chrX:153769452-153769462
26	MYC	chrX:153768977-153769591	HepG2	liver:	n/a	n/a
27	POLR2A	chrX:153769211-153770266	Hela-S3	cervix:	n/a	n/a
28	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
29	NR2F2	chrX:153769133-153770648	MCF-7	breast:	n/a	n/a
30	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
31	FOXA2	chrX:153769046-153769794	A549	lung:	n/a	n/a
32	EP300	chrX:153769110-153770636	MCF-7	breast:	n/a	chrX:153769195-153769211 chrX:153770342-153770349 chrX:153770410-153770419 chrX:153769371-153769381
33	EP300	chrX:153768790-153769655	A549	lung:	n/a	chrX:153769195-153769211 chrX:153769371-153769381
34	POLR2A	chrX:153769196-153771829	HepG2	liver:	n/a	n/a
35	FOSL2	chrX:153769302-153769520	A549	lung:	n/a	chrX:153769452-153769464 chrX:153769454-153769462
36	POLR2A	chrX:153768761-153771924	PANC-1	pancreas:	n/a	n/a
37	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
38	SMARCC1	chrX:153769395-153771482	Hela-S3	cervix:	n/a	chrX:153769454-153769463 chrX:153770304-153770313
39	TAF1	chrX:153769312-153769654	HepG2	liver:	n/a	n/a
40	BCL3	chrX:153769056-153771948	A549	lung:	n/a	chrX:153770715-153770724 chrX:153770358-153770365
41	EP300	chrX:153769230-153769753	T-47D	breast:	n/a	chrX:153769371-153769381
42	MYC	chrX:153769370-153769711	MCF-7	breast:	n/a	n/a
43	TAF1	chrX:153769085-153769661	A549	lung:	n/a	n/a
44	MBD4	chrX:153769176-153769515	HepG2	liver:	n/a	n/a
45	ZNF217	chrX:153769175-153770349	MCF-7	breast:	n/a	n/a
46	NR3C1	chrX:153769052-153769676	A549	lung:	n/a	chrX:153769453-153769462
47	POLR2A	chrX:153769230-153771521	Hela-S3	cervix:	n/a	n/a
48	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
49	FOSL2	chrX:153769132-153769647	HepG2	liver:	n/a	chrX:153769452-153769464 chrX:153769454-153769462
50	HNF4G	chrX:153769210-153769526	HepG2	liver:	n/a	chrX:153769370-153769378

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:153739964..153747755-chrX:153769201..153779573,21	MCF-7	breast:
15	chrX:153624391..153630513-chrX:153767458..153777755,28	MCF-7	breast:
16	chrX:153718887..153719776-chrX:153768848..153769884,7	MCF-7	breast:
17	chrX:153647962..153648876-chrX:153768790..153770430,11	MCF-7	breast:
18	chrX:153742627..153746314-chrX:153768128..153770916,5	MCF-7	breast:
19	chrX:153605631..153609024-chrX:153768272..153771518,4	MCF-7	breast:
20	chrX:153236430..153239363-chrX:153768843..153770673,2	MCF-7	breast:
21	chrX:153718887..153719776-chrX:153768848..153769809,4	MCF-7	breast:
22	chrX:153595658..153604095-chrX:153765725..153780258,40	MCF-7	breast:
23	chrX:153743896..153747919-chrX:153768909..153770861,4	K562	blood:
24	X:153719993-153730954..X:153755323-153771683	K562	blood:
25	chrX:153625296..153629968-chrX:153767983..153777827,13	K562	blood:
26	X:153614328-153625659..X:153755323-153771683	K562	blood:
27	chrX:153713288..153721499-chrX:153767815..153773161,10	MCF-7	breast:

Variant related genes	Relation type
IKBKG	TF binding region
ENSG00000126903	Chromatin interaction
ENSG00000197180	Chromatin interaction
ENSG00000160211	Chromatin interaction
ENSG00000071553	Chromatin interaction
ENSG00000177854	Chromatin interaction
ENSG00000264783	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000102119	Chromatin interaction
ENSG00000071889	Chromatin interaction
ENSG00000102125	Chromatin interaction
ENSG00000261773	Chromatin interaction
ENSG00000264631	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000203879	Chromatin interaction
ENSG00000013563	Chromatin interaction
ENSG00000264484	Chromatin interaction
ENSG00000102178	Chromatin interaction
ENSG00000172534	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:116 , 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:153761000-153769600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chrX:153762600-153769600	Weak transcription	Left Ventricle	heart
10	chrX:153762600-153770200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chrX:153762600-153770600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chrX:153762800-153771000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chrX:153762800-153774200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chrX:153762800-153774800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chrX:153763000-153770400	Weak transcription	GM12878-XiMat	blood
16	chrX:153763000-153774400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chrX:153763000-153774400	Weak transcription	Fetal Kidney	kidney
18	chrX:153763200-153770200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chrX:153763600-153769800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chrX:153763600-153769800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chrX:153763600-153770000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chrX:153763600-153770000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chrX:153763600-153770400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chrX:153763600-153771000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chrX:153763600-153773000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chrX:153763600-153774400	Weak transcription	Fetal Intestine Large	intestine
27	chrX:153763800-153770000	Weak transcription	Gastric	stomach
28	chrX:153764200-153774600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chrX:153764400-153769600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chrX:153764400-153769800	Weak transcription	Duodenum Mucosa	Duodenum
31	chrX:153764400-153770000	Weak transcription	Primary B cells from peripheral blood	blood
32	chrX:153764400-153770000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chrX:153764400-153770600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chrX:153764400-153770800	Weak transcription	Primary T cells from cord blood	blood
35	chrX:153764400-153771000	Weak transcription	Colonic Mucosa	Colon
36	chrX:153764400-153774200	Weak transcription	Pancreas	Pancrea
37	chrX:153764600-153769600	Weak transcription	Brain Cingulate Gyrus	brain
38	chrX:153764600-153769600	Weak transcription	HSMMtube	muscle
39	chrX:153764600-153774000	Weak transcription	Brain Germinal Matrix	brain
40	chrX:153766200-153770000	Weak transcription	Fetal Muscle Leg	muscle
41	chrX:153767200-153769600	Weak transcription	Lung	lung
42	chrX:153767800-153769800	Weak transcription	Fetal Heart	heart
43	chrX:153767800-153770000	Weak transcription	Brain Angular Gyrus	brain
44	chrX:153767800-153771600	Weak transcription	Brain Anterior Caudate	brain
45	chrX:153768000-153769600	Weak transcription	Brain Hippocampus Middle	brain
46	chrX:153768000-153769600	Weak transcription	HSMM	muscle
47	chrX:153768000-153769800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chrX:153768200-153769800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chrX:153768600-153769600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chrX:153768600-153769800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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