Variant report

Variant	rs2631733
Chromosome Location	chr4:8427320-8427321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10938709	0.82[ASN][1000 genomes]
rs11729265	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12503034	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1880025	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2002860	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2049302	0.96[ASN][1000 genomes]
rs2140336	0.98[ASN][1000 genomes]
rs2245515	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2245808	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2245809	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2386223	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2631723	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2631724	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2631727	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2631728	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2631729	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2631730	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2631737	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2631750	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2631752	0.89[ASN][1000 genomes]
rs2631757	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2631763	0.95[ASN][1000 genomes]
rs2631764	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2631765	0.96[ASN][1000 genomes]
rs2631766	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2631767	0.93[ASN][1000 genomes]
rs2631769	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2688221	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2688228	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2688229	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2688230	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2688234	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2688239	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2688240	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2688244	0.93[ASN][1000 genomes]
rs2688246	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3103090	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3103098	0.80[AMR][1000 genomes]
rs3115396	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3775893	0.89[EUR][1000 genomes]
rs4325994	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56343159	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs954270	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs954271	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv470014	chr4:8390646-8429817	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv964028	chr4:8418957-8430160	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8399600-8429400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:8404600-8429400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:8416400-8428000	Weak transcription	Fetal Brain Male	brain
4	chr4:8416800-8429000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:8416800-8429000	Weak transcription	Brain Substantia Nigra	brain
6	chr4:8416800-8429000	Weak transcription	Fetal Kidney	kidney
7	chr4:8416800-8429000	Weak transcription	HUVEC	blood vessel
8	chr4:8417000-8428400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr4:8417000-8429000	Weak transcription	Small Intestine	intestine
10	chr4:8417600-8428800	Weak transcription	Dnd41	blood
11	chr4:8417800-8428400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:8417800-8428800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr4:8417800-8428800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:8417800-8429000	Weak transcription	Primary B cells from cord blood	blood
15	chr4:8417800-8429000	Weak transcription	Colonic Mucosa	Colon
16	chr4:8417800-8429000	Weak transcription	HSMMtube	muscle
17	chr4:8417800-8429200	Weak transcription	Fetal Lung	lung
18	chr4:8418000-8428400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:8418000-8428800	Weak transcription	Stomach Mucosa	stomach
20	chr4:8418000-8429000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:8418000-8429000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:8418000-8429000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:8418200-8428000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr4:8418200-8428800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:8418200-8429000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:8418200-8429000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:8418400-8427800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr4:8418400-8428000	Weak transcription	Brain Hippocampus Middle	brain
29	chr4:8418400-8428400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:8418400-8428800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr4:8418400-8429000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr4:8418400-8429000	Weak transcription	NHEK	skin
33	chr4:8418600-8428800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:8418600-8428800	Weak transcription	Brain Angular Gyrus	brain
35	chr4:8418600-8429000	Weak transcription	Primary T cells from cord blood	blood
36	chr4:8418600-8429000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:8418600-8429000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:8418600-8429000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:8418600-8429000	Weak transcription	Brain Germinal Matrix	brain
40	chr4:8418600-8429000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr4:8418800-8428800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr4:8418800-8429000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:8419000-8428800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:8419000-8428800	Weak transcription	Fetal Brain Female	brain
45	chr4:8419200-8429000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr4:8419200-8429200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr4:8419400-8428000	Weak transcription	Fetal Muscle Leg	muscle
48	chr4:8419400-8428400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr4:8419400-8429000	Weak transcription	Fetal Intestine Small	intestine
50	chr4:8419400-8429000	Weak transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links