Variant report

Variant	rs6716891
Chromosome Location	chr2:37206683-37206684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37206126..37208242-chr2:37214233..37216058,2	K562	blood:
2	chr2:37204760..37206841-chr2:37210799..37212478,2	K562	blood:

Variant related genes	Relation type
ENSG00000008869	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1008839	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1014584	1.00[CHD][hapmap]
rs10167453	1.00[CHD][hapmap]
rs10177905	1.00[CHD][hapmap]
rs10181959	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10495870	0.83[MEX][hapmap]
rs12105607	0.83[ASN][1000 genomes]
rs12105781	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12464180	1.00[CHD][hapmap]
rs13383000	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408302	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408514	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17020147	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17332671	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17404648	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497197	1.00[CHB][hapmap]
rs17497654	0.83[ASN][1000 genomes]
rs2110997	0.83[ASN][1000 genomes]
rs2247010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372444	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2540923	1.00[CHD][hapmap]
rs2691111	1.00[CHD][hapmap]
rs28429673	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670171	1.00[CHD][hapmap]
rs55800939	0.83[ASN][1000 genomes]
rs56157221	0.83[ASN][1000 genomes]
rs56163481	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58762847	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717174	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731315	0.83[ASN][1000 genomes]
rs6744560	1.00[CHB][hapmap]
rs72873841	0.83[ASN][1000 genomes]
rs72873844	0.83[ASN][1000 genomes]
rs72873849	0.83[ASN][1000 genomes]
rs72873859	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72873862	0.83[ASN][1000 genomes]
rs72873867	0.83[ASN][1000 genomes]
rs72873871	0.83[ASN][1000 genomes]
rs7562158	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7573717	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7600245	0.87[EUR][1000 genomes];0.92[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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv873879	chr2:37200033-37299145	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6716891	EIF2AK2	cis	cerebellum	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37194400-37214200	Weak transcription	Pancreas	Pancrea
2	chr2:37194400-37229000	Weak transcription	Gastric	stomach
3	chr2:37194800-37211600	Weak transcription	HSMM	muscle
4	chr2:37194800-37226400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:37194800-37232400	Weak transcription	NHLF	lung
6	chr2:37195000-37206800	Weak transcription	Primary B cells from cord blood	blood
7	chr2:37195000-37206800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:37195000-37213800	Weak transcription	Right Ventricle	heart
9	chr2:37195000-37224200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:37195200-37206800	Weak transcription	Adipose Nuclei	Adipose
11	chr2:37195200-37207600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:37195200-37211200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:37195200-37214000	Weak transcription	Brain Anterior Caudate	brain
14	chr2:37195200-37217400	Weak transcription	NHDF-Ad	bronchial
15	chr2:37195200-37225400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:37195200-37252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:37195400-37207400	Weak transcription	GM12878-XiMat	blood
18	chr2:37195400-37207800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:37195400-37208600	Weak transcription	Osteobl	bone
20	chr2:37195400-37213800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:37195400-37215000	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:37195400-37217600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:37195400-37227400	Weak transcription	A549	lung
24	chr2:37195400-37227600	Weak transcription	HUVEC	blood vessel
25	chr2:37195400-37248600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:37195600-37215200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:37195600-37231400	Weak transcription	Brain Angular Gyrus	brain
28	chr2:37195800-37207000	Weak transcription	Fetal Lung	lung
29	chr2:37195800-37208800	Weak transcription	Fetal Intestine Large	intestine
30	chr2:37195800-37229000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:37196000-37206800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:37196000-37206800	Weak transcription	Fetal Intestine Small	intestine
33	chr2:37196000-37207800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:37196000-37208200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:37196000-37213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:37196200-37208600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr2:37196200-37209400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:37196200-37226400	Weak transcription	Dnd41	blood
39	chr2:37196400-37208400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:37199200-37208600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:37200200-37213800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:37200400-37207000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:37201000-37206800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:37201000-37225200	Weak transcription	K562	blood
45	chr2:37202000-37228800	Weak transcription	Spleen	Spleen
46	chr2:37202400-37206800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:37202400-37207400	Weak transcription	Psoas Muscle	Psoas
48	chr2:37202600-37215200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:37202800-37206800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:37202800-37213800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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