Variant report

Variant	rs2277307
Chromosome Location	chr11:64950843-64950844
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr11:64950559-64951427	MCF-7	breast:	n/a	n/a
2	YY1	chr11:64950665-64951410	ECC-1	luminal epithelium:	n/a	n/a
3	GATA3	chr11:64950503-64951579	MCF-7	breast:	n/a	n/a
4	NR2F2	chr11:64950821-64951420	MCF-7	breast:	n/a	n/a
5	MAX	chr11:64950586-64951635	MCF-7	breast:	n/a	n/a
6	MAX	chr11:64950678-64951645	ECC-1	luminal epithelium:	n/a	n/a
7	ZNF217	chr11:64950761-64951357	MCF-7	breast:	n/a	n/a
8	ZBTB7A	chr11:64950744-64951482	ECC-1	luminal epithelium:	n/a	n/a
9	NFIC	chr11:64950524-64951623	ECC-1	luminal epithelium:	n/a	n/a
10	NFIC	chr11:64950349-64951650	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr11:64950611-64951360	ECC-1	luminal epithelium:	n/a	n/a
12	ESR1	chr11:64950644-64951433	ECC-1	luminal epithelium:	n/a	n/a
13	YY1	chr11:64950735-64951351	ECC-1	luminal epithelium:	n/a	n/a
14	TEAD4	chr11:64950579-64951522	ECC-1	luminal epithelium:	n/a	n/a
15	EP300	chr11:64950624-64950951	T-47D	breast:	n/a	n/a
16	EP300	chr11:64950538-64951698	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr11:64948045-64950989	K562	blood:	n/a	n/a
18	ELF1	chr11:64950708-64951301	MCF-7	breast:	n/a	n/a
19	SIN3AK20	chr11:64950531-64951614	MCF-7	breast:	n/a	n/a
20	TCF12	chr11:64950521-64951504	ECC-1	luminal epithelium:	n/a	chr11:64951086-64951096 chr11:64950932-64950942
21	ZBTB7A	chr11:64948110-64951299	ECC-1	luminal epithelium:	n/a	chr11:64949459-64949470
22	POLR2A	chr11:64946681-64957644	K562	blood:	n/a	n/a
23	GATA3	chr11:64950599-64950949	T-47D	breast:	n/a	n/a
24	POLR2A	chr11:64950814-64951420	HCT-116	colon:	n/a	n/a
25	REST	chr11:64950606-64951032	MCF-7	breast:	n/a	n/a
26	HDAC2	chr11:64950694-64951419	MCF-7	breast:	n/a	n/a
27	GATA3	chr11:64950757-64951203	MCF-7	breast:	n/a	n/a
28	TCF12	chr11:64950657-64951761	ECC-1	luminal epithelium:	n/a	chr11:64951086-64951096 chr11:64950932-64950942
29	TEAD4	chr11:64950662-64951551	ECC-1	luminal epithelium:	n/a	n/a
30	NR2F2	chr11:64950592-64951485	MCF-7	breast:	n/a	n/a
31	STAT3	chr11:64950694-64950894	MCF10A-Er-Src	breast:	n/a	chr11:64950768-64950776

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64897351..64905868-chr11:64946257..64954528,24	K562	blood:
2	chr11:64899351..64904069-chr11:64950676..64953624,5	K562	blood:
3	chr11:64948280..64951360-chr11:64970311..64973843,4	MCF-7	breast:
4	chr11:64894025..64897642-chr11:64945042..64952225,7	MCF-7	breast:
5	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
6	chr11:64862263..64865019-chr11:64949588..64952291,3	MCF-7	breast:
7	chr11:64948264..64950913-chr11:64951274..64954036,3	MCF-7	breast:
8	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
9	chr11:64949731..64952366-chr11:64986911..64988700,2	K562	blood:
10	chr11:64949318..64950980-chr11:65546666..65549109,2	MCF-7	breast:
11	chr11:64912371..64919818-chr11:64945990..64951836,8	MCF-7	breast:
12	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
13	chr11:64888081..64892747-chr11:64946823..64951612,8	MCF-7	breast:
14	chr11:64947729..64951218-chr11:65027798..65031522,5	MCF-7	breast:
15	chr11:64778492..64782821-chr11:64947057..64951070,4	K562	blood:
16	chr11:64898025..64904360-chr11:64945543..64952640,32	MCF-7	breast:
17	chr11:64646646..64648212-chr11:64949732..64952705,2	MCF-7	breast:
18	chr11:64946026..64951451-chr11:65265686..65269219,7	MCF-7	breast:

No data

Variant related genes	Relation type
CAPN1	TF binding region
ENSG00000254614	TF binding region
ENSG00000149806	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000197847	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000254455	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000222477	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000255173	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11605576	0.90[JPT][hapmap]
rs12417272	0.81[ASN][1000 genomes]
rs12420069	0.90[JPT][hapmap]
rs12420456	0.90[JPT][hapmap]
rs12422027	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12800339	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17881590	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17886894	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271448	0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs34007842	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34281454	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3782093	0.90[JPT][hapmap]
rs3825072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3953797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58858596	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6591178	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7933509	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897713	chr11:64915042-65000719	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 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	chr11:64947600-64951000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:64947800-64952200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:64948000-64951000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:64948000-64951000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:64948000-64951000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr11:64948000-64952000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:64948200-64951000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:64948200-64951400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr11:64948200-64951600	Enhancers	Fetal Brain Male	brain
10	chr11:64949400-64951000	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr11:64949400-64952400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:64949600-64951000	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr11:64949600-64951000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr11:64949600-64951400	Flanking Active TSS	Placenta	Placenta
15	chr11:64949800-64951000	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr11:64949800-64951200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
17	chr11:64950000-64951000	Flanking Active TSS	Lung	lung
18	chr11:64950000-64951000	Flanking Active TSS	Hela-S3	cervix
19	chr11:64950000-64951400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:64950000-64951400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
21	chr11:64950000-64951600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:64950000-64951800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
23	chr11:64950200-64951000	Enhancers	Primary T cells from cord blood	blood
24	chr11:64950200-64951000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr11:64950200-64951000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr11:64950200-64951000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr11:64950200-64951000	Enhancers	Liver	Liver
28	chr11:64950200-64951200	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:64950200-64951200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:64950200-64951200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:64950200-64951200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr11:64950200-64951400	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr11:64950200-64951600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr11:64950200-64951800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:64950200-64952400	Enhancers	Fetal Heart	heart
36	chr11:64950400-64951000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:64950400-64951000	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr11:64950400-64951000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:64950400-64951000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
40	chr11:64950400-64951200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:64950400-64951200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:64950400-64951200	Transcr. at gene 5' and 3'	Pancreas	Pancrea
43	chr11:64950400-64951400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:64950400-64951400	Enhancers	Fetal Lung	lung
45	chr11:64950400-64951400	Enhancers	Fetal Thymus	thymus
46	chr11:64950400-64951600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:64950400-64951600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:64950400-64951600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr11:64950400-64951800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:64950400-64951800	Genic enhancers	Sigmoid Colon	Sigmoid Colon

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