Variant report

Variant	rs17020125
Chromosome Location	chr2:37241050-37241051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1007823	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10084334	0.81[CEU][hapmap]
rs10167385	0.85[CEU][hapmap]
rs10490658	0.81[CHD][hapmap]
rs10495869	0.90[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1123648	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11674811	0.82[ASN][1000 genomes]
rs11682782	0.95[CEU][hapmap];0.89[MEX][hapmap]
rs11685402	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11694342	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17020136	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17020143	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17038861	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2160411	0.90[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs2372788	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770770	0.83[CEU][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap]
rs3796041	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4670645	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4670649	0.82[ASN][1000 genomes]
rs59952755	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60572996	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61689754	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62133077	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62133080	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62133081	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62133082	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62133104	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62133105	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62133107	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62133108	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6709006	0.95[CEU][hapmap]
rs6723869	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6728062	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6753260	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9636428	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17020125	SRSF7	cis	parietal	SCAN

Chromatin state (count:125 , 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	chr2:37214200-37248400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:37219200-37256400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:37223400-37282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr2:37224000-37256000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:37224000-37270600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:37224600-37248200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:37226800-37256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:37227800-37246000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:37228000-37247200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:37228600-37267000	Weak transcription	Stomach Mucosa	stomach
16	chr2:37229800-37251200	Weak transcription	K562	blood
17	chr2:37230000-37242000	Weak transcription	A549	lung
18	chr2:37230400-37245600	Weak transcription	Spleen	Spleen
19	chr2:37230400-37248400	Weak transcription	Right Ventricle	heart
20	chr2:37230800-37248200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:37232600-37248200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:37232800-37248400	Weak transcription	Psoas Muscle	Psoas
23	chr2:37232800-37251000	Weak transcription	Brain Substantia Nigra	brain
24	chr2:37233000-37242600	Weak transcription	Brain Angular Gyrus	brain
25	chr2:37233000-37245600	Weak transcription	Pancreas	Pancrea
26	chr2:37233000-37253000	Weak transcription	NHEK	skin
27	chr2:37233400-37242200	Weak transcription	HUVEC	blood vessel
28	chr2:37233800-37245400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:37234200-37241400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:37235000-37248400	Weak transcription	Aorta	Aorta
31	chr2:37236800-37244200	Weak transcription	Left Ventricle	heart
32	chr2:37237600-37241200	Strong transcription	Fetal Stomach	stomach
33	chr2:37237600-37255400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:37238000-37241200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:37238000-37248200	Strong transcription	Adipose Nuclei	Adipose
36	chr2:37238200-37241600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:37238200-37247600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:37238200-37255200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:37238400-37247400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:37238400-37248400	Weak transcription	Right Atrium	heart
41	chr2:37238400-37260800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:37238600-37241200	Genic enhancers	Fetal Heart	heart
43	chr2:37238600-37245000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:37238800-37251800	Strong transcription	Placenta	Placenta
45	chr2:37239200-37241200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:37239200-37241400	Strong transcription	Fetal Intestine Large	intestine
47	chr2:37239200-37247600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr2:37239200-37248000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr2:37239400-37242800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:37239400-37243000	Strong transcription	Osteobl	bone

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