Variant report

Variant	rs11706997
Chromosome Location	chr3:120494289-120494290
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:120491622..120494305-chr3:120496483..120498559,2	K562	blood:
2	chr3:120490765..120494305-chr3:120495076..120499796,4	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10511403	0.86[ASN][1000 genomes]
rs11709002	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11709661	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12485282	0.86[ASN][1000 genomes]
rs12491957	0.86[ASN][1000 genomes]
rs12493166	0.81[ASN][1000 genomes]
rs1505700	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1505701	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16831698	0.82[ASN][1000 genomes]
rs2331541	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35108870	0.84[ASN][1000 genomes]
rs378759	0.90[ASN][1000 genomes]
rs55741444	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57704109	0.82[ASN][1000 genomes]
rs6772101	0.86[ASN][1000 genomes]
rs6787364	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9829072	0.90[ASN][1000 genomes]
rs9857158	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1005396	chr3:120460741-120580319	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv829700	chr3:120469191-120675763	Strong transcription Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1012541	chr3:120482402-120580319	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv1014477	chr3:120482402-120583166	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120462600-120495200	Weak transcription	Aorta	Aorta
2	chr3:120462800-120499800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:120462800-120500000	Weak transcription	Gastric	stomach
4	chr3:120462800-120503000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:120463000-120496000	Weak transcription	Fetal Lung	lung
6	chr3:120463000-120499800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:120463000-120502000	Weak transcription	Colonic Mucosa	Colon
8	chr3:120463000-120504200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:120463000-120504800	Weak transcription	Fetal Brain Male	brain
10	chr3:120463200-120495200	Weak transcription	Fetal Intestine Small	intestine
11	chr3:120463400-120497000	Weak transcription	Fetal Kidney	kidney
12	chr3:120463400-120503000	Weak transcription	Small Intestine	intestine
13	chr3:120470200-120499600	Weak transcription	HSMMtube	muscle
14	chr3:120470200-120499800	Weak transcription	Lung	lung
15	chr3:120472400-120495200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:120473600-120495400	Weak transcription	Hela-S3	cervix
17	chr3:120482200-120505200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr3:120482200-120517600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:120483200-120509800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr3:120483400-120502000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:120483400-120521200	Weak transcription	Fetal Heart	heart
22	chr3:120485400-120499800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:120485800-120495200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:120485800-120495400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr3:120486000-120498800	Weak transcription	Stomach Mucosa	stomach
26	chr3:120486000-120505000	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:120486200-120495200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:120486200-120501600	Strong transcription	Primary B cells from cord blood	blood
29	chr3:120486200-120502000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:120486400-120494800	Weak transcription	Liver	Liver
31	chr3:120486400-120495200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr3:120486400-120499800	Weak transcription	NHLF	lung
33	chr3:120486400-120502000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr3:120486600-120495200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:120486600-120495800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:120486600-120499200	Weak transcription	Ovary	ovary
37	chr3:120486600-120499800	Weak transcription	Fetal Stomach	stomach
38	chr3:120487000-120495000	Weak transcription	Brain Substantia Nigra	brain
39	chr3:120487200-120494600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr3:120487200-120495200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr3:120487200-120499200	Weak transcription	Left Ventricle	heart
42	chr3:120487200-120502000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr3:120487600-120503000	Weak transcription	Right Ventricle	heart
44	chr3:120487800-120495000	Weak transcription	Brain Anterior Caudate	brain
45	chr3:120487800-120501400	Weak transcription	Brain Angular Gyrus	brain
46	chr3:120488600-120503200	Weak transcription	Psoas Muscle	Psoas
47	chr3:120488800-120496600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr3:120489000-120496800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr3:120489000-120501600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr3:120489400-120502000	Strong transcription	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links