Variant report

Variant	rs6852348
Chromosome Location	chr4:8396576-8396577
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10002453	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10025940	0.86[EUR][1000 genomes]
rs1568694	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16842325	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs16842333	0.80[CEU][hapmap]
rs2386224	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs28551127	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28627156	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57229672	0.86[EUR][1000 genomes]
rs57845616	0.82[AMR][1000 genomes]
rs6447869	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs6814163	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6849528	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs6853292	0.89[CEU][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6855235	0.80[CEU][hapmap];0.83[AMR][1000 genomes]
rs7686550	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9884410	0.98[AFR][1000 genomes]
rs9995201	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv878609	chr4:8373832-8407406	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv878610	chr4:8377058-8416976	ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	esv1005399	chr4:8387281-8397983	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	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
13	nsv593639	chr4:8394376-8424108	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8366400-8411600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr4:8373400-8401600	Strong transcription	Fetal Intestine Small	intestine
3	chr4:8375000-8401600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:8378600-8398600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:8378600-8398800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:8378800-8397800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:8381800-8398600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:8382400-8401600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:8383800-8419000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:8384000-8399600	Strong transcription	Spleen	Spleen
11	chr4:8384800-8401600	Strong transcription	Thymus	Thymus
12	chr4:8384800-8418600	Strong transcription	Primary T cells from cord blood	blood
13	chr4:8385200-8411600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:8385600-8407000	Weak transcription	Stomach Mucosa	stomach
15	chr4:8386400-8398200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:8386400-8408400	Strong transcription	Fetal Intestine Large	intestine
17	chr4:8386600-8398600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr4:8386600-8399400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr4:8386600-8400600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:8386800-8396600	Strong transcription	Lung	lung
21	chr4:8387400-8399600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:8387400-8412000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:8388400-8399200	Strong transcription	Liver	Liver
24	chr4:8389000-8399600	Strong transcription	Pancreas	Pancrea
25	chr4:8389400-8399200	Genic enhancers	Fetal Muscle Trunk	muscle
26	chr4:8389400-8399200	Genic enhancers	Fetal Muscle Leg	muscle
27	chr4:8389800-8411400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:8391200-8406400	Weak transcription	Fetal Thymus	thymus
29	chr4:8391400-8397600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:8391600-8397600	Weak transcription	Colonic Mucosa	Colon
31	chr4:8392000-8396600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr4:8392400-8397600	Genic enhancers	Placenta	Placenta
33	chr4:8392600-8396800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:8392800-8397400	Enhancers	Ovary	ovary
35	chr4:8393000-8396600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:8393000-8397400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr4:8393000-8397800	Genic enhancers	Fetal Stomach	stomach
38	chr4:8393200-8396600	Enhancers	HUVEC	blood vessel
39	chr4:8393400-8396800	Enhancers	Right Atrium	heart
40	chr4:8393400-8396800	Enhancers	NHLF	lung
41	chr4:8393600-8396800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr4:8393600-8397600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr4:8393600-8401600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:8393600-8401800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr4:8393800-8397600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:8393800-8401400	Strong transcription	Gastric	stomach
47	chr4:8394000-8401600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:8394200-8396800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:8394200-8397000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:8394200-8398800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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