Variant report

Variant	rs17443495
Chromosome Location	chr2:37117502-37117503
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37108584..37111603-chr2:37116874..37118803,4	K562	blood:
2	chr2:37108584..37111533-chr2:37117079..37119450,3	K562	blood:
3	chr2:37116050..37118229-chr2:37119836..37122372,2	K562	blood:
4	chr2:37112252..37114608-chr2:37115570..37119781,3	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10193295	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs10490657	1.00[JPT][hapmap]
rs10490658	0.91[CHB][hapmap]
rs11124555	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs12476515	1.00[JPT][hapmap]
rs13418962	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs17020071	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17496249	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2003585	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs2017018	0.85[ASN][1000 genomes]
rs2110942	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2252032	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs2691106	1.00[JPT][hapmap]
rs2717493	0.85[CEU][hapmap];0.95[JPT][hapmap]
rs3770770	0.81[CHB][hapmap]
rs3770774	0.89[CEU][hapmap];0.90[JPT][hapmap]
rs3770781	0.92[CEU][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes]
rs3845778	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs3845780	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs4389320	1.00[JPT][hapmap]
rs4670638	0.96[JPT][hapmap]
rs62132522	0.83[AFR][1000 genomes]
rs6752845	0.89[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs711244	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7573966	0.85[CEU][hapmap];0.95[JPT][hapmap]
rs7588378	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs888083	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17443495	STRN	cis	multi-tissue	Pritchard

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
2	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:37077400-37136600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:37078200-37118400	Weak transcription	Fetal Brain Male	brain
6	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:37096400-37143800	Weak transcription	Fetal Kidney	kidney
9	chr2:37096800-37154400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:37099200-37140200	Weak transcription	Colonic Mucosa	Colon
11	chr2:37101800-37119200	Weak transcription	GM12878-XiMat	blood
12	chr2:37103800-37121400	Weak transcription	Small Intestine	intestine
13	chr2:37103800-37146200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:37104200-37117800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:37105000-37152600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:37105000-37164600	Weak transcription	Lung	lung
17	chr2:37105200-37118400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:37105200-37125400	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:37105200-37136200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:37105200-37139200	Weak transcription	Aorta	Aorta
21	chr2:37105200-37141200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:37105200-37144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:37105200-37154400	Weak transcription	Esophagus	oesophagus
24	chr2:37105200-37157800	Weak transcription	Pancreas	Pancrea
25	chr2:37105200-37164600	Weak transcription	Spleen	Spleen
26	chr2:37105800-37146400	Weak transcription	Right Ventricle	heart
27	chr2:37109000-37117600	Strong transcription	Primary B cells from cord blood	blood
28	chr2:37110000-37135800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:37110200-37120600	Weak transcription	HepG2	liver
30	chr2:37110800-37119400	Weak transcription	Fetal Stomach	stomach
31	chr2:37110800-37142800	Weak transcription	Gastric	stomach
32	chr2:37111000-37120200	Weak transcription	Fetal Lung	lung
33	chr2:37111200-37118200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:37111200-37119200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:37111200-37120800	Weak transcription	Liver	Liver
36	chr2:37111200-37122400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:37111200-37140600	Weak transcription	Fetal Brain Female	brain
38	chr2:37111400-37119600	Strong transcription	Primary hematopoietic stem cells	blood
39	chr2:37111600-37119200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:37111600-37119200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:37111600-37139200	Weak transcription	Ovary	ovary
42	chr2:37111800-37119800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:37111800-37119800	Weak transcription	Left Ventricle	heart
44	chr2:37111800-37138200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:37112000-37138400	Weak transcription	Brain Germinal Matrix	brain
46	chr2:37112400-37118600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:37112400-37145800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:37113200-37125400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr2:37113400-37118600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:37113400-37125600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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