Variant report

Variant	rs4719737
Chromosome Location	chr7:3018962-3018963
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10950967	0.88[EUR][1000 genomes]
rs12535775	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1878808	0.87[ASN][1000 genomes]
rs4722276	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4722277	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7776475	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	28 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3017200-3019800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:3017800-3019400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr7:3017800-3020600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:3017800-3020800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:3018000-3019000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:3018000-3019200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr7:3018000-3019200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:3018000-3019200	Enhancers	Gastric	stomach
9	chr7:3018000-3019200	Flanking Active TSS	Thymus	Thymus
10	chr7:3018000-3019400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:3018000-3019400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:3018000-3019400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr7:3018000-3019600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr7:3018000-3019800	Enhancers	Brain Germinal Matrix	brain
15	chr7:3018000-3020200	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr7:3018000-3020200	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr7:3018000-3020200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr7:3018000-3020200	Flanking Active TSS	GM12878-XiMat	blood
19	chr7:3018000-3020600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr7:3018000-3020600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:3018000-3020800	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr7:3018200-3019000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:3018200-3019000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:3018200-3019000	Enhancers	HMEC	breast
25	chr7:3018200-3019200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:3018200-3019200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr7:3018200-3019200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:3018200-3019200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:3018200-3019200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:3018200-3019200	Flanking Active TSS	Fetal Thymus	thymus
31	chr7:3018200-3019400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:3018200-3019400	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr7:3018200-3019400	Bivalent Enhancer	Fetal Brain Male	brain
34	chr7:3018200-3019600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:3018200-3020800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr7:3018400-3019000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:3018400-3019000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr7:3018400-3019000	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr7:3018400-3019000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
40	chr7:3018400-3019000	Flanking Active TSS	Pancreas	Pancrea
41	chr7:3018400-3019000	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr7:3018400-3019200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:3018400-3019200	Active TSS	Small Intestine	intestine
44	chr7:3018400-3019400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr7:3018400-3019400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
46	chr7:3018400-3019400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
47	chr7:3018400-3019400	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr7:3018400-3020000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr7:3018600-3019000	Enhancers	Colonic Mucosa	Colon
50	chr7:3018600-3019000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum

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