Variant report

Variant	rs13312278
Chromosome Location	chr7:128043113-128043114
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127999383..128002185-chr7:128042634..128044178,2	K562	blood:

Variant related genes	Relation type
ENSG00000224940	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10954184	0.92[ASN][1000 genomes]
rs11765126	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11773251	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11973781	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11977296	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11981766	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11982673	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11983847	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12536006	0.94[ASN][1000 genomes]
rs12706850	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12706851	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13221784	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13222212	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13227646	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13242340	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2076805	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2228075	0.98[ASN][1000 genomes]
rs2278293	0.81[ASN][1000 genomes]
rs2278294	0.85[EUR][1000 genomes]
rs34848853	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35649907	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6975115	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7802305	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13312278	IMPDH1	cis	Adipose Subcutaneous	GTEx
rs13312278	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128028000-128045200	Weak transcription	Small Intestine	intestine
3	chr7:128028400-128044600	Weak transcription	Fetal Heart	heart
4	chr7:128029600-128044400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:128030000-128043800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:128031000-128043800	Strong transcription	Fetal Stomach	stomach
7	chr7:128031200-128043200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:128031200-128043200	Strong transcription	A549	lung
9	chr7:128031200-128043600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:128031200-128043600	Strong transcription	Lung	lung
11	chr7:128031200-128044200	Strong transcription	Spleen	Spleen
12	chr7:128031400-128043200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:128031400-128043200	Strong transcription	Gastric	stomach
14	chr7:128031400-128043600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:128031400-128044000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:128031400-128044200	Strong transcription	Fetal Muscle Leg	muscle
17	chr7:128031600-128043200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:128031600-128043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:128031600-128043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:128031600-128043800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:128031600-128043800	Strong transcription	Adipose Nuclei	Adipose
22	chr7:128031600-128044400	Strong transcription	Fetal Intestine Small	intestine
23	chr7:128031800-128043400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:128031800-128043400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:128031800-128043600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr7:128031800-128043600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr7:128031800-128043800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:128032000-128044000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:128032200-128043400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:128032400-128043200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:128032400-128043600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:128033000-128044000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:128033200-128043200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:128033800-128043400	Strong transcription	Brain Anterior Caudate	brain
35	chr7:128034400-128043600	Strong transcription	K562	blood
36	chr7:128034600-128043200	Strong transcription	Osteobl	bone
37	chr7:128034800-128044200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:128036200-128043800	Strong transcription	Primary hematopoietic stem cells	blood
39	chr7:128038200-128044200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:128038400-128045200	Weak transcription	Fetal Kidney	kidney
41	chr7:128038600-128044000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:128038800-128043800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr7:128038800-128044000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:128039000-128044400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr7:128039200-128043400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr7:128039800-128043200	Strong transcription	Primary T cells from cord blood	blood
47	chr7:128039800-128043400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:128040000-128043600	Strong transcription	Hela-S3	cervix
49	chr7:128040200-128044000	Weak transcription	NH-A	brain
50	chr7:128040600-128043800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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