Variant report

Variant	rs631101
Chromosome Location	chr11:65627626-65627627
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	POLR2A	chr11:65626493-65628606	GM15510	blood:	n/a	n/a
2	SP2	chr11:65627589-65628125	H1-hESC	embryonic stem cell:	n/a	chr11:65627853-65627868
3	ZNF143	chr11:65627555-65628480	Hela-S3	cervix:	n/a	chr11:65627928-65627938 chr11:65628370-65628389
4	POLR2A	chr11:65623326-65628516	K562	blood:	n/a	n/a
5	GABPA	chr11:65626939-65628475	A549	lung:	n/a	chr11:65626961-65626970
6	TAF1	chr11:65626617-65628325	H1-hESC	embryonic stem cell:	n/a	n/a
7	EP300	chr11:65627619-65628166	K562	blood:	n/a	chr11:65627921-65627937
8	TAF1	chr11:65626464-65628961	H1-neurons	neurons:	n/a	n/a
9	GABPA	chr11:65627415-65628650	SK-N-SH	brain:	n/a	n/a
10	SRF	chr11:65625329-65628578	HCT-116	colon:	n/a	chr11:65626934-65626952 chr11:65626959-65626969 chr11:65626996-65627010 chr11:65626992-65627006 chr11:65626934-65626951 chr11:65626992-65627010 chr11:65626991-65627009 chr11:65626937-65626951 chr11:65626935-65626950 chr11:65626995-65627006 chr11:65626991-65627006 chr11:65626938-65626947 chr11:65626934-65626948 chr11:65626933-65626947 chr11:65626933-65626951 chr11:65626936-65626949 chr11:65626996-65627005 chr11:65626991-65627005 chr11:65626989-65627006 chr11:65626996-65627007 chr11:65625700-65625710 chr11:65626994-65627007 chr11:65626933-65626951
11	YY1	chr11:65627443-65628370	GM12891	blood:	n/a	n/a
12	YY1	chr11:65627436-65628552	ECC-1	luminal epithelium:	n/a	n/a
13	TBL1XR1	chr11:65627574-65628277	GM12878	blood:	n/a	n/a
14	MAX	chr11:65627035-65628397	HepG2	liver:	n/a	chr11:65627695-65627705 chr11:65627400-65627407
15	USF1	chr11:65627400-65628426	A549	lung:	n/a	n/a
16	GABPA	chr11:65626507-65628682	K562	blood:	n/a	chr11:65626961-65626970
17	TCF12	chr11:65627483-65628274	A549	lung:	n/a	chr11:65628142-65628149
18	SP1	chr11:65626294-65628529	A549	lung:	n/a	chr11:65627695-65627707 chr11:65627093-65627105 chr11:65626780-65626794 chr11:65626957-65626971 chr11:65626961-65626971 chr11:65626962-65626971 chr11:65628128-65628140 chr11:65626779-65626791 chr11:65626781-65626790 chr11:65626961-65626971 chr11:65627095-65627104 chr11:65626779-65626791 chr11:65628124-65628133 chr11:65626780-65626790 chr11:65628125-65628134 chr11:65626861-65626875 chr11:65626960-65626972 chr11:65628128-65628140 chr11:65628123-65628135 chr11:65627093-65627105 chr11:65627014-65627028 chr11:65626729-65626741 chr11:65626962-65626971 chr11:65626961-65626970 chr11:65626960-65626972 chr11:65626906-65626915 chr11:65626780-65626789 chr11:65628129-65628138
19	YY1	chr11:65627074-65628489	H1-hESC	embryonic stem cell:	n/a	n/a
20	SP1	chr11:65627596-65628307	K562	blood:	n/a	chr11:65627695-65627707 chr11:65628128-65628140 chr11:65628124-65628133 chr11:65628125-65628134 chr11:65628128-65628140 chr11:65628123-65628135 chr11:65628129-65628138
21	PBX3	chr11:65627561-65628471	SK-N-SH	brain:	n/a	chr11:65627992-65628012
22	ATF3	chr11:65627050-65628127	A549	lung:	n/a	n/a
23	HCFC1	chr11:65623229-65629451	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr11:65617092-65633870	K562	blood:	n/a	n/a
25	POLR2A	chr11:65625404-65628352	MCF10A-Er-Src	breast:	n/a	n/a
26	CTCF	chr11:65627606-65628157	K562	blood:	n/a	n/a
27	ZNF143	chr11:65624824-65628112	K562	blood:	n/a	chr11:65625465-65625483 chr11:65625821-65625839 chr11:65625425-65625435 chr11:65625773-65625791 chr11:65625757-65625767 chr11:65625463-65625473 chr11:65625828-65625837 chr11:65626696-65626714 chr11:65627928-65627938 chr11:65627521-65627540 chr11:65625063-65625073
28	BCL3	chr11:65627568-65628132	A549	lung:	n/a	chr11:65627996-65628004 chr11:65627848-65627856
29	POLR2A	chr11:65626492-65628830	GM12878	blood:	n/a	n/a
30	CTCFL	chr11:65627575-65627965	K562	blood:	n/a	chr11:65627844-65627853
31	SIN3AK20	chr11:65627549-65628344	A549	lung:	n/a	n/a
32	NFIC	chr11:65626550-65628591	SK-N-SH	brain:	n/a	chr11:65627963-65627979
33	POLR2A	chr11:65626663-65628410	K562	blood:	n/a	n/a
34	JUND	chr11:65627040-65628223	H1-hESC	embryonic stem cell:	n/a	chr11:65628126-65628135
35	POLR2A	chr11:65626491-65628190	H1-hESC	embryonic stem cell:	n/a	n/a
36	TBP	chr11:65627606-65628179	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr11:65623812-65628919	HUVEC	blood vessel:	n/a	n/a
38	ZBTB7A	chr11:65626395-65628791	ECC-1	luminal epithelium:	n/a	chr11:65627845-65627854 chr11:65628065-65628074 chr11:65626820-65626829 chr11:65627114-65627125 chr11:65626622-65626630
39	YY1	chr11:65627493-65628605	GM12892	blood:	n/a	n/a
40	ZNF143	chr11:65627586-65628168	H1-hESC	embryonic stem cell:	n/a	chr11:65627928-65627938
41	TAF1	chr11:65624974-65628641	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr11:65627373-65628868	Hela-S3	cervix:	n/a	n/a
43	RFX5	chr11:65627606-65628354	Hela-S3	cervix:	n/a	n/a
44	ELK4	chr11:65626866-65628667	Hela-S3	cervix:	n/a	chr11:65628246-65628257
45	SP4	chr11:65627515-65628128	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr11:65627522-65628130	A549	lung:	n/a	n/a
47	POLR2A	chr11:65624455-65628614	Raji	blood:	n/a	n/a
48	PML	chr11:65626882-65628500	K562	blood:	n/a	n/a
49	PBX3	chr11:65627474-65628543	A549	lung:	n/a	chr11:65627992-65628012
50	FOXM1	chr11:65624103-65628727	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65625132..65628506-chr11:66035169..66036764,3	K562	blood:
2	chr11:65625517..65628088-chr11:65710841..65713644,2	MCF-7	breast:
3	chr11:65381104..65384699-chr11:65624758..65628552,6	MCF-7	breast:
4	chr11:65627050..65627709-chr17:73775169..73775841,2	Hela-S3	cervix:
5	chr11:65472429..65485450-chr11:65615794..65629774,38	K562	blood:
6	chr11:65487808..65489743-chr11:65627431..65628962,2	K562	blood:
7	chr11:65627330..65628123-chr14:73524955..73525674,2	Hela-S3	cervix:
8	chr11:65428959..65430837-chr11:65624739..65627866,4	K562	blood:
9	chr11:65320341..65322130-chr11:65626386..65628197,2	K562	blood:
10	chr11:65545624..65552162-chr11:65622017..65629334,15	K562	blood:
11	chr11:65627066..65628314-chr11:65655642..65656516,3	MCF-7	breast:
12	chr11:65626899..65627706-chr12:54673578..54674187,2	Hela-S3	cervix:
13	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:
14	chr11:65482499..65489390-chr11:65622947..65628870,15	MCF-7	breast:
15	chr11:65626233..65629168-chr11:65768411..65771473,3	MCF-7	breast:
16	chr11:65627395..65628004-chr11:65640671..65641318,2	Hela-S3	cervix:
17	chr11:64543629..64546477-chr11:65627505..65629510,2	K562	blood:
18	chr11:65423887..65432217-chr11:65622069..65628988,12	K562	blood:
19	chr11:65428865..65431305-chr11:65626478..65629718,3	MCF-7	breast:
20	chr11:65307252..65310035-chr11:65625535..65628177,3	K562	blood:
21	chr11:65627173..65627816-chr4:120987298..120987988,2	Hela-S3	cervix:
22	chr11:65623413..65628719-chr11:65768360..65773657,11	MCF-7	breast:
23	chr11:65624882..65627968-chr11:66034504..66038316,6	K562	blood:
24	chr11:65377447..65384699-chr11:65622853..65629192,15	MCF-7	breast:
25	chr11:65626619..65631270-chr11:65726316..65731782,7	MCF-7	breast:
26	chr11:65626410..65629243-chr2:70140118..70142563,2	MCF-7	breast:
27	chr11:65381971..65384321-chr11:65627424..65629349,2	K562	blood:
28	chr11:65545480..65548295-chr11:65624014..65629369,5	MCF-7	breast:
29	chr11:65545624..65551607-chr11:65624049..65629334,14	K562	blood:
30	chr11:65189338..65192942-chr11:65624454..65628332,4	K562	blood:
31	chr11:65401684..65407000-chr11:65623220..65627704,6	K562	blood:
32	chr11:65544951..65562337-chr11:65623093..65630859,34	MCF-7	breast:
33	chr11:65413332..65415260-chr11:65625154..65627683,2	K562	blood:
34	chr11:65477884..65488010-chr11:65623516..65630419,28	MCF-7	breast:
35	chr11:65624197..65629461-chr11:65817994..65821738,6	K562	blood:
36	chr11:65627121..65628034-chr3:52443935..52444794,2	Hela-S3	cervix:
37	chr11:65477240..65482056-chr11:65622069..65629377,17	MCF-7	breast:
38	chr11:65624095..65629782-chr11:65682347..65689302,13	MCF-7	breast:
39	chr11:65317657..65319340-chr11:65625571..65627845,2	K562	blood:
40	chr11:65625573..65627850-chr11:65819625..65821222,2	MCF-7	breast:
41	chr11:65625352..65628744-chr11:66111177..66113723,3	K562	blood:
42	chr11:65556556..65561389-chr11:65623769..65628916,7	MCF-7	breast:
43	chr11:65476077..65482461-chr11:65623301..65629774,23	K562	blood:
44	chr11:65339784..65341937-chr11:65625772..65627928,2	MCF-7	breast:

Variant related genes	Relation type
MUS81	TF binding region
CFL1	TF binding region
ENSG00000174903	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000094916	Chromatin interaction
ENSG00000266041	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000175513	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000176973	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000135486	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000010318	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000164109	Chromatin interaction
ENSG00000059728	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000163930	Chromatin interaction
ENSG00000119707	Chromatin interaction
ENSG00000168056	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000168066	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs490433	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs533131	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897763	chr11:65613348-65644027	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	121 gene(s)	inside rSNPs	diseases
10	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
11	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
12	nsv897766	chr11:65624025-65644027	Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65623800-65628800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:65623800-65629200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:65624000-65628600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr11:65624000-65628600	Active TSS	Lung	lung
5	chr11:65624000-65628800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr11:65624000-65628800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:65624000-65629000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:65624000-65629000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:65624200-65628600	Active TSS	Right Ventricle	heart
10	chr11:65624200-65628600	Active TSS	Sigmoid Colon	Sigmoid Colon
11	chr11:65624200-65628800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:65624200-65628800	Active TSS	Gastric	stomach
13	chr11:65624200-65629000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr11:65624200-65629000	Active TSS	Aorta	Aorta
15	chr11:65624200-65629000	Active TSS	Ovary	ovary
16	chr11:65624200-65629200	Active TSS	Small Intestine	intestine
17	chr11:65624400-65628600	Active TSS	Brain Substantia Nigra	brain
18	chr11:65624400-65628600	Active TSS	Colon Smooth Muscle	Colon
19	chr11:65624400-65628600	Active TSS	Thymus	Thymus
20	chr11:65624400-65628800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:65624400-65628800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr11:65624400-65628800	Active TSS	Esophagus	oesophagus
23	chr11:65624400-65628800	Active TSS	Left Ventricle	heart
24	chr11:65624400-65628800	Active TSS	K562	blood
25	chr11:65624400-65629000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr11:65624400-65629200	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr11:65624400-65629400	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr11:65624400-65629600	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr11:65624600-65628800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:65624600-65628800	Active TSS	Psoas Muscle	Psoas
31	chr11:65624600-65629000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:65625200-65628400	Active TSS	Fetal Brain Female	brain
33	chr11:65625600-65628400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:65625800-65627800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr11:65625800-65627800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr11:65625800-65627800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:65625800-65627800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:65625800-65627800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:65625800-65627800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr11:65625800-65627800	Flanking Active TSS	Placenta	Placenta
41	chr11:65626000-65627800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr11:65626000-65627800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr11:65626000-65627800	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr11:65626000-65627800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr11:65626000-65627800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr11:65626000-65627800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:65626000-65627800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr11:65626000-65627800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:65626000-65627800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr11:65626000-65627800	Flanking Active TSS	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links