Variant report

Variant	rs17886894
Chromosome Location	chr11:64951839-64951840
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	TBP	chr11:64951657-64951952	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP1	chr11:64951657-64952079	H1-hESC	embryonic stem cell:	n/a	chr11:64951943-64951955 chr11:64951944-64951953 chr11:64951869-64951890 chr11:64951945-64951954 chr11:64951943-64951955 chr11:64951949-64951958 chr11:64951949-64951959 chr11:64951949-64951963 chr11:64951944-64951953 chr11:64951949-64951958 chr11:64951950-64951959 chr11:64951949-64951959 chr11:64951833-64951847 chr11:64951944-64951954 chr11:64951948-64951960 chr11:64951799-64951809 chr11:64951799-64951809 chr11:64951948-64951960
3	SP1	chr11:64951621-64952099	H1-hESC	embryonic stem cell:	n/a	chr11:64951943-64951955 chr11:64951944-64951953 chr11:64951869-64951890 chr11:64951945-64951954 chr11:64951943-64951955 chr11:64951949-64951958 chr11:64951949-64951959 chr11:64951949-64951963 chr11:64951944-64951953 chr11:64951949-64951958 chr11:64951950-64951959 chr11:64951949-64951959 chr11:64951833-64951847 chr11:64951944-64951954 chr11:64951948-64951960 chr11:64951799-64951809 chr11:64951799-64951809 chr11:64951948-64951960
4	POLR2A	chr11:64951629-64951939	H1-hESC	embryonic stem cell:	n/a	n/a
5	NFYB	chr11:64951716-64951930	K562	blood:	n/a	chr11:64951879-64951889 chr11:64951877-64951891 chr11:64951876-64951891 chr11:64951880-64951892 chr11:64951876-64951891
6	MAX	chr11:64951597-64952139	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:64951781-64951877	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr11:64950852-64951966	ECC-1	luminal epithelium:	n/a	n/a
9	GABPA	chr11:64951622-64951925	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:64946681-64957644	K562	blood:	n/a	n/a
11	MAX	chr11:64951392-64951865	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr11:64951613-64951940	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:64951568-64951996	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64951798-64951848	AG09319	gingival:	n/a
2	chr11:64951798-64951848	HIPEpiC	eye:	n/a
3	chr11:64951798-64951848	A549	lung:	n/a
4	chr11:64951798-64951848	NH-A	brain:	n/a
5	chr11:64951798-64951848	HRPEpiC	eye:	n/a
6	chr11:64951798-64951848	T-47D	breast:	n/a
7	chr11:64951798-64951848	HepG2	liver:	n/a
8	chr11:64951798-64951848	H1-hESC	embryonic stem cell:	embryo
9	chr11:64951798-64951848	GM12891	blood:	n/a
10	chr11:64951798-64951848	IMR90	lung:	fetal
11	chr11:64951798-64951848	HPAEpiC	pulmonary alveolar:	n/a
12	chr11:64951798-64951848	HAEpiC	amniotic membrane:	n/a
13	chr11:64951798-64951848	NB4	blood:	n/a
14	chr11:64951798-64951848	AG04449	skin:	fetal
15	chr11:64951798-64951848	HCF	heart:	n/a
16	chr11:64951798-64951848	MCF-7	breast:	n/a
17	chr11:64951798-64951848	SK-N-MC	brain:	n/a
18	chr11:64951798-64951848	NHBE	bronchial:	n/a
19	chr11:64951798-64951848	HMEC	breast:	n/a
20	chr11:64951798-64951848	U87	brain:	n/a
21	chr11:64951798-64951848	Hela-S3	cervix:	n/a
22	chr11:64951798-64951848	SK-N-SH_RA	brain:	n/a
23	chr11:64951798-64951848	HNPCEpiC	eye:	n/a
24	chr11:64951798-64951848	AG10803	skin:	n/a
25	chr11:64951798-64951848	MCF10A-Er-Src	breast:	n/a
26	chr11:64951798-64951848	PANC-1	pancreas:	n/a
27	chr11:64951798-64951848	LNCaP	prostate:	n/a
28	chr11:64951798-64951848	K562	blood:	n/a
29	chr11:64951798-64951848	GM12878	blood:	n/a
30	chr11:64951798-64951848	BE2_C	brain:	n/a
31	chr11:64951798-64951848	HRE	kidney:	n/a
32	chr11:64951798-64951848	BJ	skin:	n/a
33	chr11:64951798-64951848	NT2-D1	testis:	n/a
34	chr11:64951798-64951848	HEK293	kidney:	embryo
35	chr11:64951798-64951848	RPTEC	kidney:	n/a
36	chr11:64951798-64951848	HRCEpiC	kidney:	n/a
37	chr11:64951798-64951848	HL-60	blood:	n/a
38	chr11:64951798-64951848	HCT-116	colon:	n/a
39	chr11:64951798-64951848	PrEC	prostate:	n/a
40	chr11:64951798-64951848	Hepatocyte	liver:	n/a
41	chr11:64951798-64951848	NHDF-neo	bronchial:	n/a
42	chr11:64951798-64951848	HCM	heart:	n/a
43	chr11:64951798-64951848	SKMC	muscle:	n/a
44	chr11:64951798-64951848	HCPEpiC	choroid plexus:	n/a
45	chr11:64951798-64951848	AG04450	lung:	fetal
46	chr11:64951798-64951848	AG09309	skin:	n/a
47	chr11:64951798-64951848	PFSK-1	brain:	n/a
48	chr11:64951798-64951848	GM12892	blood:	n/a
49	chr11:64951798-64951848	HUVEC	blood vessel:	n/a
50	chr11:64951798-64951848	GM06990	blood:	n/a

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	chr11:64894025..64897642-chr11:64945042..64952225,7	MCF-7	breast:
4	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
5	chr11:64862263..64865019-chr11:64949588..64952291,3	MCF-7	breast:
6	chr11:64937018..64939498-chr11:64950908..64953438,2	MCF-7	breast:
7	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
8	chr11:64949731..64952366-chr11:64986911..64988700,2	K562	blood:
9	chr11:64948264..64950913-chr11:64951274..64954036,3	MCF-7	breast:
10	chr11:64950995..64952839-chr11:65029401..65031022,2	MCF-7	breast:
11	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
12	chr11:64898025..64904360-chr11:64945543..64952640,32	MCF-7	breast:
13	chr11:64646646..64648212-chr11:64949732..64952705,2	MCF-7	breast:
14	chr11:64888312..64893387-chr11:64951706..64955535,4	K562	blood:
15	chr11:64945380..64947486-chr11:64951371..64953143,2	K562	blood:
16	chr11:64878248..64881625-chr11:64951647..64953289,3	K562	blood:

Variant related genes	Relation type
CAPN1	TF binding region
ENSG00000254614	TF binding region
ENSG00000254614	CpG island
CAPN1	CpG island
ENSG00000254614	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000197847	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000014216	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12417272	0.81[ASN][1000 genomes]
rs12422027	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12800339	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17583	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17881590	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2271448	0.86[EUR][1000 genomes]
rs2277307	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34007842	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34281454	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3825072	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3953797	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58858596	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6591178	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7933509	0.87[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	chr11:64947800-64952200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:64948000-64952000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:64949400-64952400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:64950200-64952400	Enhancers	Fetal Heart	heart
5	chr11:64950400-64952800	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr11:64950400-64953400	Weak transcription	Aorta	Aorta
7	chr11:64950400-64953400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:64950400-64953600	Weak transcription	Ovary	ovary
9	chr11:64950400-64954200	Weak transcription	Brain Angular Gyrus	brain
10	chr11:64950400-64955400	Weak transcription	Small Intestine	intestine
11	chr11:64950400-64956200	Weak transcription	Brain Substantia Nigra	brain
12	chr11:64950400-64973200	Weak transcription	Fetal Kidney	kidney
13	chr11:64950600-64952000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:64950600-64952200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:64950600-64952400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:64950600-64953200	Weak transcription	Brain Anterior Caudate	brain
17	chr11:64950600-64953400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:64950600-64953400	Weak transcription	Left Ventricle	heart
19	chr11:64950600-64953800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:64950600-64954000	Weak transcription	HSMMtube	muscle
21	chr11:64950600-64957200	Weak transcription	Psoas Muscle	Psoas
22	chr11:64950600-64992400	Weak transcription	Right Atrium	heart
23	chr11:64950800-64952200	Weak transcription	Primary B cells from cord blood	blood
24	chr11:64950800-64952200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:64950800-64952400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:64950800-64952400	Transcr. at gene 5' and 3'	Esophagus	oesophagus
27	chr11:64950800-64952800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr11:64950800-64953200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:64950800-64953400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:64950800-64956000	Weak transcription	HSMM	muscle
31	chr11:64951000-64952000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:64951000-64952800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:64951000-64953000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:64951000-64953200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:64951000-64953200	Weak transcription	Osteobl	bone
36	chr11:64951000-64954000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr11:64951000-64954000	Weak transcription	GM12878-XiMat	blood
38	chr11:64951000-64955600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:64951000-64956200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:64951000-64956800	Weak transcription	NH-A	brain
41	chr11:64951000-64959000	Strong transcription	Thymus	Thymus
42	chr11:64951000-64959200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:64951000-64973600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:64951000-64976200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:64951200-64952000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:64951200-64952200	Genic enhancers	Duodenum Mucosa	Duodenum
47	chr11:64951200-64952200	Genic enhancers	Gastric	stomach
48	chr11:64951200-64952400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:64951200-64952400	Genic enhancers	Pancreas	Pancrea
50	chr11:64951200-64952400	Strong transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links