Variant report

Variant	rs12535775
Chromosome Location	chr7:3019614-3019615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10950967	0.87[EUR][1000 genomes]
rs1878808	0.88[ASN][1000 genomes]
rs4719737	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4722276	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4722277	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7776475	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv605873	chr7:2920067-3204177	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1025727	chr7:2938301-3064008	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1026476	chr7:2965034-3311344	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv538656	chr7:2965034-3311344	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv464260	chr7:2966138-3315572	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv605874	chr7:2966138-3315572	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1018287	chr7:2967524-3298539	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv538657	chr7:2967524-3298539	Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3017200-3019800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:3017800-3020600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:3017800-3020800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:3018000-3019800	Enhancers	Brain Germinal Matrix	brain
5	chr7:3018000-3020200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr7:3018000-3020200	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr7:3018000-3020200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr7:3018000-3020200	Flanking Active TSS	GM12878-XiMat	blood
9	chr7:3018000-3020600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr7:3018000-3020600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:3018000-3020800	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr7:3018200-3020800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr7:3018400-3020000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:3018600-3019800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:3018600-3019800	Active TSS	Rectal Smooth Muscle	rectum
16	chr7:3018600-3020000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
17	chr7:3018600-3020800	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr7:3018600-3020800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
19	chr7:3018800-3020000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
20	chr7:3018800-3020200	Active TSS	Brain Anterior Caudate	brain
21	chr7:3019000-3019800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr7:3019000-3020000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
23	chr7:3019000-3020000	Enhancers	Pancreas	Pancrea
24	chr7:3019000-3026000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:3019200-3019800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:3019200-3019800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:3019200-3020000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:3019200-3020000	Weak transcription	Esophagus	oesophagus
29	chr7:3019200-3020200	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:3019200-3020600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:3019200-3021200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr7:3019200-3024800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr7:3019200-3035800	Weak transcription	Gastric	stomach
34	chr7:3019400-3019800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr7:3019400-3020000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr7:3019400-3020000	Enhancers	Duodenum Mucosa	Duodenum
37	chr7:3019400-3020000	Enhancers	Fetal Intestine Small	intestine
38	chr7:3019400-3022200	Weak transcription	Small Intestine	intestine
39	chr7:3019400-3023800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:3019600-3019800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:3019600-3019800	Enhancers	Spleen	Spleen
42	chr7:3019600-3020000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
43	chr7:3019600-3020000	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr7:3019600-3020200	Genic enhancers	Fetal Thymus	thymus
45	chr7:3019600-3020400	Flanking Active TSS	Thymus	Thymus
46	chr7:3019600-3020600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:3019600-3020600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:3019600-3020600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:3019600-3022200	Enhancers	Primary T helper cells PMA-I stimulated	--

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