Variant report

Variant	rs3808093
Chromosome Location	chr7:127372425-127372426
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127371412..127373444-chr7:127383896..127385666,2	K562	blood:
2	chr7:127359816..127362199-chr7:127371171..127372768,2	K562	blood:
3	chr7:127367439..127369250-chr7:127371404..127374296,2	MCF-7	breast:
4	chr7:127363157..127364758-chr7:127370490..127372919,2	K562	blood:
5	chr7:127371965..127374566-chr7:127386908..127389134,2	K562	blood:
6	chr7:127371414..127375020-chr7:127377917..127380418,4	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10215276	0.89[ASN][1000 genomes]
rs10251423	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10251548	0.83[EUR][1000 genomes]
rs10255861	0.93[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10260037	0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1029927	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1075206	0.81[ASN][1000 genomes]
rs10954163	0.96[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11521053	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971935	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972774	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11976841	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11976946	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11977012	0.85[ASN][1000 genomes]
rs11977915	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11980318	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12531440	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533846	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539728	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540865	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236900	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237048	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362268	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs141450	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419969	0.83[ASN][1000 genomes]
rs16885524	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17151241	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151270	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151466	0.83[ASW][hapmap]
rs17716738	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17718395	0.96[ASN][1000 genomes]
rs1860934	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1881084	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2014583	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2016786	0.89[EUR][1000 genomes]
rs2043982	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119452	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2141259	0.91[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];0.85[YRI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402866	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402867	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2402870	0.89[EUR][1000 genomes]
rs325440	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325442	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325444	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325445	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325446	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325447	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs325451	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs327518	0.85[CHB][hapmap];0.87[CHD][hapmap]
rs35121681	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35176520	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35940771	0.89[EUR][1000 genomes]
rs35971861	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779529	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779530	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808087	0.83[ASN][1000 genomes]
rs3808092	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808095	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808097	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808105	0.85[ASN][1000 genomes]
rs3808106	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808107	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808112	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3824000	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs41464647	0.81[ASW][hapmap]
rs4728077	0.85[ASN][1000 genomes]
rs4731376	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4731378	0.89[EUR][1000 genomes]
rs55694225	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56306023	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58583807	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467145	0.89[EUR][1000 genomes]
rs6961381	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963455	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968199	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969880	0.84[EUR][1000 genomes]
rs712712	0.85[EUR][1000 genomes]
rs712716	0.92[CEU][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs73234861	0.85[ASN][1000 genomes]
rs73234862	0.85[ASN][1000 genomes]
rs73234880	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73234882	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73234897	0.96[ASN][1000 genomes]
rs73234901	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs741599	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs759843	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7785050	0.85[EUR][1000 genomes]
rs7786041	0.89[ASN][1000 genomes]
rs7797663	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7799882	0.89[EUR][1000 genomes]
rs917832	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs918793	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972088	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs972089	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs972090	0.92[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3808093	GPR37	cis	cerebellum	SCAN
rs3808093	SND1	cis	parietal	SCAN
rs3808093	HYAL4	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127326600-127379800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr7:127331600-127375600	Strong transcription	Fetal Thymus	thymus
3	chr7:127334400-127376600	Weak transcription	Fetal Brain Male	brain
4	chr7:127347800-127383000	Strong transcription	NHEK	skin
5	chr7:127351400-127375600	Strong transcription	Liver	Liver
6	chr7:127351400-127383800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr7:127351600-127382200	Strong transcription	K562	blood
8	chr7:127352600-127375600	Strong transcription	Primary T cells from cord blood	blood
9	chr7:127354200-127374000	Weak transcription	Fetal Brain Female	brain
10	chr7:127354200-127376600	Weak transcription	Psoas Muscle	Psoas
11	chr7:127355200-127380000	Strong transcription	GM12878-XiMat	blood
12	chr7:127356600-127375600	Strong transcription	Primary B cells from cord blood	blood
13	chr7:127357200-127375200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:127357200-127382600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:127357400-127375000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr7:127357400-127375600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:127357400-127380800	Strong transcription	Fetal Intestine Large	intestine
18	chr7:127357600-127375200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:127357600-127375400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:127357600-127387000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:127357800-127378200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:127358000-127373000	Strong transcription	NH-A	brain
23	chr7:127358200-127374800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:127359800-127375400	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr7:127360000-127377800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr7:127360000-127379200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:127360400-127374800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:127360600-127372800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:127360600-127382000	Strong transcription	Hela-S3	cervix
30	chr7:127360800-127377600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:127361200-127375400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:127361200-127391400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:127362600-127400000	Weak transcription	Small Intestine	intestine
34	chr7:127363400-127391000	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:127363400-127391400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:127363800-127372800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:127364400-127372600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:127364800-127376800	Strong transcription	Lung	lung
39	chr7:127365000-127376000	Weak transcription	A549	lung
40	chr7:127366000-127391000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr7:127366200-127391200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:127366600-127373600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:127366600-127375200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:127366600-127380000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:127366800-127375400	Strong transcription	Osteobl	bone
46	chr7:127367400-127377400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:127367600-127374200	Strong transcription	HSMM	muscle
48	chr7:127367800-127375600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:127368000-127372600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:127368000-127373400	Strong transcription	HSMMtube	muscle

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