Variant report

Variant	rs711244
Chromosome Location	chr2:37068428-37068429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STRN-1	chr2:37067534-37069337	NONHSAT070091

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10193295	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs10490657	1.00[JPT][hapmap]
rs10490658	0.91[CHB][hapmap];0.84[CHD][hapmap]
rs11124555	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs12476515	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs13418962	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1504	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17020071	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17443495	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17496249	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1861435	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2003585	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs2110942	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2245109	0.89[CEU][hapmap]
rs2252032	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs2691106	1.00[JPT][hapmap]
rs2717493	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs3770770	0.81[CHB][hapmap]
rs3770774	0.85[CEU][hapmap];0.90[JPT][hapmap]
rs3770781	0.88[ASW][hapmap];0.96[CEU][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];0.82[LWK][hapmap];0.82[MEX][hapmap];0.97[MKK][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3845778	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs3845780	0.85[CEU][hapmap];0.95[JPT][hapmap]
rs4389320	1.00[JPT][hapmap]
rs4670638	0.95[JPT][hapmap]
rs62132522	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6752845	0.96[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7573966	0.82[CEU][hapmap];0.95[JPT][hapmap]
rs7588378	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs7600413	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs888083	0.81[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1011014	chr2:37027819-37095895	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv999465	chr2:37029347-37095895	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs711244	EIF2AK2	cis	cerebellum	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37060800-37070000	Weak transcription	HSMM	muscle
2	chr2:37062400-37074000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:37062400-37075800	Weak transcription	Brain Germinal Matrix	brain
4	chr2:37062600-37069400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:37062800-37073800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:37062800-37076000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:37062800-37095600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:37063000-37069600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:37063000-37071000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:37063000-37071200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:37063000-37074000	Weak transcription	Dnd41	blood
12	chr2:37063000-37074200	Weak transcription	Primary T cells from cord blood	blood
13	chr2:37063000-37076200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:37063000-37093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:37063200-37074200	Weak transcription	HUVEC	blood vessel
16	chr2:37063800-37069600	Weak transcription	NHEK	skin
17	chr2:37064000-37076000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:37065800-37074000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:37065800-37104200	Weak transcription	Right Ventricle	heart
20	chr2:37066000-37069600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:37066000-37076200	Weak transcription	Lung	lung
22	chr2:37066200-37075200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:37066400-37076200	Weak transcription	Fetal Stomach	stomach
24	chr2:37066800-37069600	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:37066800-37076200	Weak transcription	Brain Substantia Nigra	brain
26	chr2:37066800-37092800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:37067400-37071400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:37067400-37076000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:37067400-37076400	Weak transcription	Aorta	Aorta
30	chr2:37067400-37083800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:37067400-37103200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:37067600-37070800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:37067600-37071000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:37067600-37071000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:37067600-37071000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:37067600-37071200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:37067600-37074000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:37067600-37074000	Weak transcription	Left Ventricle	heart
39	chr2:37067600-37074000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:37067600-37074200	Weak transcription	Adipose Nuclei	Adipose
41	chr2:37067600-37074200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:37067600-37075200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:37067600-37075200	Weak transcription	Fetal Intestine Large	intestine
44	chr2:37067600-37075200	Weak transcription	Ovary	ovary
45	chr2:37067600-37076200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:37067600-37076400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:37067600-37083800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:37067600-37103000	Weak transcription	Small Intestine	intestine
49	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
50	chr2:37067800-37069600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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