Variant report

Variant	rs12791976
Chromosome Location	chr11:67004425-67004426
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	STAT3	chr11:67004350-67004550	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:67004415-67004456	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66999042..67000655-chr11:67002856..67004657,2	K562	blood:

Variant related genes	Relation type
KDM2A	TF binding region
ENSG00000173120	Chromatin interaction

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

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

rs_ID	r²[population]
rs12803635	1.00[AFR][1000 genomes]
rs12803820	1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2286621	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34281447	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34614891	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35247643	1.00[AFR][1000 genomes]
rs35590263	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs36019351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3741180	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs55987642	1.00[AFR][1000 genomes]
rs71457758	1.00[AFR][1000 genomes]
rs71457767	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71457768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73503907	0.93[EUR][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	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66936400-67006200	Weak transcription	Stomach Mucosa	stomach
2	chr11:66956400-67005000	Weak transcription	Fetal Heart	heart
3	chr11:66965200-67006400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:66973000-67005400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:66980800-67005600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:66981600-67005200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr11:66981800-67006400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:66982000-67005800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:66987000-67006000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:66990400-67005200	Strong transcription	Fetal Intestine Small	intestine
11	chr11:66990800-67005400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:66995800-67006400	Weak transcription	Fetal Brain Male	brain
13	chr11:66996400-67006400	Weak transcription	Aorta	Aorta
14	chr11:66996400-67006400	Weak transcription	Ovary	ovary
15	chr11:66996600-67006400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:66996600-67006400	Weak transcription	Colonic Mucosa	Colon
17	chr11:66996600-67006400	Weak transcription	Psoas Muscle	Psoas
18	chr11:66996800-67005600	Weak transcription	Fetal Kidney	kidney
19	chr11:66998200-67006400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:66999400-67006000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:66999400-67006000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:66999400-67006400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:66999400-67006400	Weak transcription	Pancreas	Pancrea
24	chr11:66999600-67005000	Weak transcription	Left Ventricle	heart
25	chr11:66999600-67005200	Weak transcription	K562	blood
26	chr11:66999600-67005600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:66999600-67005800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:66999600-67005800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:66999600-67005800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:66999600-67005800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:66999600-67005800	Weak transcription	NHLF	lung
32	chr11:66999600-67006000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:66999600-67006000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:66999600-67006000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:66999600-67006000	Weak transcription	Brain Hippocampus Middle	brain
36	chr11:66999600-67006000	Weak transcription	HSMMtube	muscle
37	chr11:66999600-67006200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:66999600-67006200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:66999600-67006200	Weak transcription	Brain Angular Gyrus	brain
40	chr11:66999600-67006200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:66999600-67006400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:66999600-67006400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:66999600-67006400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:66999600-67006400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:66999600-67006400	Weak transcription	Right Ventricle	heart
46	chr11:66999600-67006400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:66999600-67006400	Weak transcription	A549	lung
48	chr11:66999800-67005600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:66999800-67006000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:66999800-67006200	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links