Variant report

Variant	rs1196044
Chromosome Location	chr11:64903437-64903438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64898630-64903647	GM12891	blood:	n/a	n/a
2	HCFC1	chr11:64901357-64903565	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:64903429-64903454	GM12878	blood:	n/a	n/a
4	RFX5	chr11:64901331-64904232	SK-N-SH	brain:	n/a	chr11:64902541-64902550 chr11:64902622-64902637
5	POLR2A	chr11:64898187-64903706	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:64899473-64903620	Raji	blood:	n/a	n/a
7	POLR2A	chr11:64901228-64903602	K562	blood:	n/a	n/a
8	POLR2A	chr11:64898449-64903552	K562	blood:	n/a	n/a
9	POLR2A	chr11:64900394-64903553	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:64898597-64903686	GM12878	blood:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64901611..64904567-chr11:64970669..64973165,2	MCF-7	breast:
2	chr11:64901689..64904390-chr11:64927326..64929490,2	MCF-7	breast:
3	chr11:64902231..64906341-chr11:64907764..64913217,6	K562	blood:
4	chr11:64899644..64904758-chr11:64914742..64920010,11	K562	blood:
5	chr11:64902555..64904162-chr11:64937685..64940560,2	MCF-7	breast:
6	chr11:64900106..64905064-chr11:64945207..64950571,10	K562	blood:
7	chr11:64900546..64904208-chr11:64924387..64928430,3	K562	blood:
8	chr11:64610673..64614254-chr11:64900941..64904149,4	MCF-7	breast:
9	chr11:64642970..64646207-chr11:64900095..64903878,3	K562	blood:
10	chr11:64902468..64904062-chr11:64942313..64944064,2	MCF-7	breast:
11	chr11:64897351..64905868-chr11:64946257..64954528,24	K562	blood:
12	chr11:64901191..64904408-chr11:64910543..64914377,7	MCF-7	breast:
13	chr11:64901151..64904024-chr11:65027824..65029855,2	K562	blood:
14	chr11:64900888..64904024-chr11:65027824..65031103,3	K562	blood:
15	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
16	chr11:64645625..64647922-chr11:64900749..64903645,2	MCF-7	breast:
17	chr11:64901495..64903969-chr11:65026515..65030932,5	MCF-7	breast:
18	chr11:64902242..64904997-chr11:64905693..64907711,2	K562	blood:
19	chr11:64898936..64904142-chr11:64915810..64928732,16	K562	blood:
20	chr11:64899089..64905727-chr11:64934867..64942996,32	K562	blood:
21	chr11:64901585..64906315-chr11:65031461..65034896,4	K562	blood:
22	chr11:64894864..64904857-chr11:64934599..64944069,37	K562	blood:
23	chr11:64683667..64685834-chr11:64900771..64903507,2	K562	blood:
24	chr11:64899351..64904069-chr11:64950676..64953624,5	K562	blood:
25	chr11:64898025..64904360-chr11:64945543..64952640,32	MCF-7	breast:

No data

Variant related genes	Relation type
SYVN1	TF binding region
ENSG00000171219	Chromatin interaction
ENSG00000255058	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000222477	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000254455	Chromatin interaction
ENSG00000249251	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000068971	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1152639	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1195969	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196045	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706936	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2957879	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2957880	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64900200-64903600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:64900800-64903800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:64901400-64903600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr11:64902400-64903600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:64902600-64903600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:64902600-64903600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:64902600-64903600	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr11:64902600-64903800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:64902600-64903800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr11:64902800-64903600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:64902800-64903600	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr11:64902800-64903600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr11:64902800-64903600	Flanking Active TSS	Liver	Liver
14	chr11:64902800-64903600	Flanking Active TSS	Colonic Mucosa	Colon
15	chr11:64902800-64903600	Flanking Active TSS	Fetal Intestine Large	intestine
16	chr11:64902800-64903600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr11:64902800-64903600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr11:64902800-64903600	Enhancers	Spleen	Spleen
19	chr11:64902800-64903800	Flanking Active TSS	Dnd41	blood
20	chr11:64902800-64903800	Flanking Active TSS	K562	blood
21	chr11:64902800-64904000	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr11:64902800-64904200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr11:64903000-64903600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:64903000-64903600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:64903000-64903600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr11:64903000-64904200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr11:64903000-64904400	Enhancers	Esophagus	oesophagus
28	chr11:64903000-64907000	Weak transcription	Ovary	ovary
29	chr11:64903200-64903600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:64903200-64903600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr11:64903200-64903600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr11:64903200-64903600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:64903200-64903600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:64903200-64903600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:64903200-64903600	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr11:64903200-64903600	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:64903200-64903600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:64903200-64903600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:64903200-64903600	Enhancers	Brain Anterior Caudate	brain
40	chr11:64903200-64903600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr11:64903200-64903600	Enhancers	Placenta	Placenta
42	chr11:64903200-64903600	Enhancers	Fetal Stomach	stomach
43	chr11:64903200-64903600	Enhancers	Right Atrium	heart
44	chr11:64903200-64903600	Enhancers	A549	lung
45	chr11:64903200-64903800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:64903200-64903800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:64903200-64903800	Enhancers	Brain Cingulate Gyrus	brain
48	chr11:64903200-64903800	Enhancers	Brain Hippocampus Middle	brain
49	chr11:64903200-64903800	Enhancers	Fetal Lung	lung
50	chr11:64903200-64903800	Enhancers	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links