Variant report

Variant	rs2069685
Chromosome Location	chr5:75913305-75913306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10077289	0.81[EUR][1000 genomes]
rs10462357	0.90[ASN][1000 genomes]
rs3797385	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs62362044	0.90[ASN][1000 genomes]
rs62362045	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6898614	0.81[EUR][1000 genomes]
rs9293691	1.00[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022032	chr5:75785106-75914003	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv598679	chr5:75823965-75914729	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023953	chr5:75831037-75913784	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026257	chr5:75831037-75914003	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016823	chr5:75831037-75915905	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598680	chr5:75839165-75914729	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2069685	GSTM1	trans	lymphoblastoid	seeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75879000-75913600	Weak transcription	Colonic Mucosa	Colon
2	chr5:75879000-75917600	Weak transcription	Fetal Thymus	thymus
3	chr5:75879000-75934000	Weak transcription	Small Intestine	intestine
4	chr5:75879200-75919000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:75880200-75933400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:75882600-75969400	Weak transcription	Stomach Mucosa	stomach
7	chr5:75884000-75914600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr5:75884400-75919200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr5:75884400-75919400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr5:75896800-75913800	Weak transcription	Pancreas	Pancrea
11	chr5:75901200-75917000	Weak transcription	HUVEC	blood vessel
12	chr5:75902600-75919200	Strong transcription	Primary T cells from cord blood	blood
13	chr5:75903600-75914800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:75903600-75917800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:75903800-75914400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:75903800-75916000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:75903800-75916000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr5:75903800-75917800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:75903800-75918800	Weak transcription	Fetal Kidney	kidney
20	chr5:75903800-75918800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr5:75903800-75936200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:75903800-75943600	Weak transcription	Spleen	Spleen
23	chr5:75905000-75915600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:75905200-75919000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:75906200-75915800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:75906800-75915600	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:75907000-75914200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:75907200-75914200	Strong transcription	Primary B cells from cord blood	blood
29	chr5:75907600-75914000	Weak transcription	Left Ventricle	heart
30	chr5:75907600-75916000	Weak transcription	K562	blood
31	chr5:75907600-75923000	Weak transcription	Placenta	Placenta
32	chr5:75907800-75913400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr5:75907800-75934600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:75908000-75915800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr5:75908000-75918000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:75908000-75918800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:75908000-75919000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:75908000-75919000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:75908000-75928000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:75909000-75923200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr5:75909200-75913800	Weak transcription	Gastric	stomach
42	chr5:75909200-75923000	Weak transcription	Lung	lung
43	chr5:75910200-75913800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:75910200-75917400	Weak transcription	Fetal Intestine Small	intestine
45	chr5:75910200-75919000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr5:75910200-75921200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr5:75910400-75913600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr5:75910400-75913600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr5:75910600-75913800	Weak transcription	HepG2	liver
50	chr5:75910800-75914400	Enhancers	NHDF-Ad	bronchial

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