Variant report

Variant	rs10176270
Chromosome Location	chr2:37237450-37237451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37237050..37239169-chr2:37241274..37243867,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10084334	0.85[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs10167385	0.89[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs10192867	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10193295	0.80[CHD][hapmap]
rs10207971	0.92[EUR][1000 genomes]
rs10865119	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1105014	0.86[ASN][1000 genomes]
rs11124556	0.89[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11682782	0.85[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs11684340	0.87[ASN][1000 genomes]
rs11895180	0.83[ASN][1000 genomes]
rs12104444	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12105601	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13394987	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13420311	0.80[AMR][1000 genomes]
rs2013223	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2110992	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2110996	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2110998	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247357	0.96[CEU][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2247935	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2252032	0.80[CHD][hapmap]
rs2287107	0.85[CEU][hapmap];0.93[EUR][1000 genomes]
rs2287108	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs2372913	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2372914	1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];0.82[YRI][hapmap];0.89[ASN][1000 genomes]
rs2540998	0.96[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2541004	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2541007	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2691123	0.96[CEU][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2706809	0.90[EUR][1000 genomes]
rs4255943	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.95[TSI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4606899	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4670181	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4670643	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4670647	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4670650	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58717433	0.82[EUR][1000 genomes]
rs61380056	0.83[ASN][1000 genomes]
rs62133071	0.83[ASN][1000 genomes]
rs62133078	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6544050	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6709006	0.89[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs6712162	0.83[ASN][1000 genomes]
rs6733188	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6739171	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9309001	0.80[ASN][1000 genomes]
rs9636429	0.83[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	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	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
5	nsv581471	chr2:37213186-37257386	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv581472	chr2:37235324-37291320	Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1820206	chr2:37236821-37277811	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10176270	EIF2AK2	cis	cerebellum	SCAN
rs10176270	THUMPD2	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37195200-37252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:37195400-37248600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:37209000-37290200	Weak transcription	Small Intestine	intestine
4	chr2:37211400-37238200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:37214200-37248400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:37216000-37239800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:37219200-37256400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:37220000-37239600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:37223400-37282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr2:37224000-37238600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:37224000-37256000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:37224000-37270600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:37224600-37248200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:37225200-37239800	Weak transcription	Colonic Mucosa	Colon
17	chr2:37225400-37238800	Strong transcription	Fetal Muscle Leg	muscle
18	chr2:37226200-37237600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:37226800-37256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:37227400-37239600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:37227800-37246000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:37228000-37247200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:37228600-37240600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr2:37228600-37267000	Weak transcription	Stomach Mucosa	stomach
25	chr2:37229800-37251200	Weak transcription	K562	blood
26	chr2:37230000-37239800	Weak transcription	Esophagus	oesophagus
27	chr2:37230000-37242000	Weak transcription	A549	lung
28	chr2:37230400-37238200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:37230400-37239600	Weak transcription	Gastric	stomach
30	chr2:37230400-37239800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:37230400-37245600	Weak transcription	Spleen	Spleen
32	chr2:37230400-37248400	Weak transcription	Right Ventricle	heart
33	chr2:37230600-37239600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:37230800-37238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:37230800-37239800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:37230800-37248200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:37231400-37238600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:37231400-37239800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:37231800-37239800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:37231800-37240000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:37232600-37239200	Weak transcription	Brain Anterior Caudate	brain
42	chr2:37232600-37248200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:37232800-37238200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr2:37232800-37239800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:37232800-37239800	Weak transcription	Ovary	ovary
46	chr2:37232800-37239800	Weak transcription	NHLF	lung
47	chr2:37232800-37240600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:37232800-37248400	Weak transcription	Psoas Muscle	Psoas
49	chr2:37232800-37251000	Weak transcription	Brain Substantia Nigra	brain
50	chr2:37233000-37237600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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