Variant report

Variant	rs3770775
Chromosome Location	chr2:37180207-37180208
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37178829..37181521-chr2:37183680..37185390,2	K562	blood:
2	chr2:37146002..37148856-chr2:37178765..37180451,2	K562	blood:
3	chr2:37177111..37181482-chr2:37191828..37195720,6	K562	blood:
4	chr2:37178708..37181757-chr2:37186451..37189009,3	K562	blood:
5	chr2:37178708..37180301-chr2:37186224..37188629,2	MCF-7	breast:
6	chr2:37179298..37181482-chr2:37191385..37194374,2	K562	blood:

Variant related genes	Relation type
ENSG00000252518	Chromatin interaction
ENSG00000115808	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1008838	0.86[CHB][hapmap]
rs10166161	0.96[ASN][1000 genomes]
rs10182741	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs10185737	0.98[ASN][1000 genomes]
rs10189328	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs10189918	0.96[ASN][1000 genomes]
rs10201963	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs10202311	0.96[ASN][1000 genomes]
rs10209808	0.96[ASN][1000 genomes]
rs10490659	1.00[CHB][hapmap];0.85[CHD][hapmap];0.83[ASN][1000 genomes]
rs10495868	1.00[CHB][hapmap]
rs10865120	0.86[CHB][hapmap]
rs11124552	1.00[CHB][hapmap];0.85[CHD][hapmap];0.87[ASN][1000 genomes]
rs11674211	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs11675109	1.00[CHB][hapmap]
rs11676225	1.00[CHB][hapmap];0.85[CHD][hapmap];0.83[ASN][1000 genomes]
rs11678303	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11682966	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs11685600	0.96[ASN][1000 genomes]
rs11686605	0.91[ASN][1000 genomes]
rs11691236	0.94[ASN][1000 genomes]
rs11887829	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11904023	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12328274	0.89[ASN][1000 genomes]
rs12479195	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs12616770	0.94[ASN][1000 genomes]
rs12624290	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs13385627	0.87[ASN][1000 genomes]
rs13385823	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13388406	0.81[ASN][1000 genomes]
rs13401327	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs13408941	0.85[ASN][1000 genomes]
rs13413438	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs13424317	0.92[ASN][1000 genomes]
rs17020005	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs17020069	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs17020072	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs17020074	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs17020084	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs1861433	1.00[CHB][hapmap]
rs1861436	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs2160379	0.80[ASN][1000 genomes]
rs2216106	1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[ASN][1000 genomes]
rs2302658	0.83[ASN][1000 genomes]
rs2540919	0.86[CHB][hapmap]
rs2540925	0.82[ASN][1000 genomes]
rs2540931	0.82[ASN][1000 genomes]
rs2540936	0.82[ASN][1000 genomes]
rs2541000	0.86[CHB][hapmap]
rs2691104	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs2691109	1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[ASN][1000 genomes]
rs2691110	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs2691114	1.00[CHB][hapmap]
rs2691115	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2691116	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2691118	1.00[CHB][hapmap]
rs2717494	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2717501	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2717505	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs2717509	1.00[CHB][hapmap]
rs2717510	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs2717511	1.00[CHB][hapmap]
rs2717512	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs2717518	1.00[CHB][hapmap]
rs2717522	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs28718824	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[ASN][1000 genomes]
rs28754306	0.85[ASN][1000 genomes]
rs35622893	0.87[ASN][1000 genomes]
rs3845779	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41486347	1.00[CHB][hapmap];0.85[CHD][hapmap];0.82[ASN][1000 genomes]
rs4635515	1.00[CHB][hapmap]
rs4670651	0.86[CHB][hapmap]
rs55993128	0.83[ASN][1000 genomes]
rs56186144	0.83[ASN][1000 genomes]
rs57671539	0.83[ASN][1000 genomes]
rs58970461	0.83[ASN][1000 genomes]
rs59854977	0.96[ASN][1000 genomes]
rs6544048	0.81[CEU][hapmap]
rs6715033	0.82[ASN][1000 genomes]
rs6756876	0.82[ASN][1000 genomes]
rs723673	1.00[CHB][hapmap]
rs73924932	0.85[ASN][1000 genomes]
rs73924949	0.98[ASN][1000 genomes]
rs73924952	0.96[ASN][1000 genomes]
rs7562109	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs7579735	0.87[ASN][1000 genomes]
rs7581702	1.00[CHB][hapmap]
rs998321	1.00[CHB][hapmap];0.86[CHD][hapmap]

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	nsv961397	chr2:37173966-37180387	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3770775	STRN	cis	Esophagus Mucosa	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37132400-37192400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:37134600-37192400	Weak transcription	Fetal Stomach	stomach
3	chr2:37143400-37191000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:37143800-37191800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:37150200-37191800	Weak transcription	Fetal Thymus	thymus
6	chr2:37152400-37191800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:37154600-37191800	Weak transcription	Fetal Intestine Large	intestine
8	chr2:37154800-37185600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:37155000-37183600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:37158000-37183600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:37158200-37192000	Weak transcription	Ovary	ovary
12	chr2:37158600-37191800	Weak transcription	Fetal Lung	lung
13	chr2:37159000-37191800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:37165000-37190800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:37165600-37191800	Weak transcription	Fetal Intestine Small	intestine
16	chr2:37166600-37191600	Weak transcription	Dnd41	blood
17	chr2:37168600-37191800	Weak transcription	Thymus	Thymus
18	chr2:37169800-37186800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:37176200-37191800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:37176400-37183800	Weak transcription	HepG2	liver
21	chr2:37176800-37180400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:37177000-37182200	Weak transcription	GM12878-XiMat	blood
23	chr2:37177600-37181000	Enhancers	Hela-S3	cervix
24	chr2:37177800-37180400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:37177800-37180400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:37177800-37180400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:37177800-37180400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:37177800-37180600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:37178000-37180400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:37178200-37181000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:37178200-37181200	Enhancers	HMEC	breast
32	chr2:37178400-37180400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:37178400-37180400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:37178400-37180400	Enhancers	Stomach Mucosa	stomach
35	chr2:37178400-37180600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:37178400-37180600	Enhancers	A549	lung
37	chr2:37178400-37181000	Enhancers	Fetal Heart	heart
38	chr2:37178600-37180400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr2:37178600-37182600	Weak transcription	Aorta	Aorta
40	chr2:37178600-37187200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:37178600-37191200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:37178600-37191800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:37178800-37180400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:37178800-37180400	Strong transcription	Primary B cells from cord blood	blood
45	chr2:37178800-37191600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:37178800-37191600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:37179000-37180400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:37179000-37182800	Weak transcription	Spleen	Spleen
49	chr2:37179000-37190200	Weak transcription	Placenta	Placenta
50	chr2:37179000-37190400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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