Variant report

Variant	rs741094
Chromosome Location	chr7:127590914-127590915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127589859..127591767-chr7:127593066..127595573,2	MCF-7	breast:
2	chr7:127590769..127592372-chr7:127595213..127596809,2	K562	blood:
3	chr7:127587255..127589251-chr7:127590265..127591975,2	K562	blood:
4	chr7:127291173..127294029-chr7:127587944..127590935,2	MCF-7	breast:
5	chr7:127578759..127581135-chr7:127590217..127592968,2	K562	blood:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction
ENSG00000240790	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10487499	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487502	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155421	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375023	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531847	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532894	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534918	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537331	0.85[GIH][hapmap];1.00[MEX][hapmap]
rs12540357	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706816	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706818	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706819	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12706820	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706822	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706823	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227201	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229973	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231367	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236338	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238924	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345283	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348103	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362898	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419970	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468701	0.96[EUR][1000 genomes]
rs17151466	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151507	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151639	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs17151653	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151668	0.82[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151682	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151707	1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs17151739	0.85[GIH][hapmap];0.93[MEX][hapmap]
rs17676654	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34026100	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34688920	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34839191	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35154268	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41464647	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs55660321	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58406876	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489175	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467157	1.00[CHB][hapmap];0.85[GIH][hapmap];0.93[MEX][hapmap];1.00[ASN][1000 genomes]
rs67827668	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948605	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953231	1.00[CHB][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959487	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962635	0.82[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73232968	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232972	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238078	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7458839	0.95[EUR][1000 genomes]
rs7785596	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805021	0.82[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809182	1.00[CEU][hapmap];0.85[GIH][hapmap];0.89[TSI][hapmap];0.95[EUR][1000 genomes]
rs7810024	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649027	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649512	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[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	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	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs741094	SND1	cis	Artery Tibial	GTEx
rs741094	GPR37	cis	cerebellum	SCAN
rs741094	HYAL4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127568200-127594000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:127569800-127615600	Weak transcription	Colonic Mucosa	Colon
3	chr7:127570000-127591400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:127570600-127615600	Weak transcription	Small Intestine	intestine
5	chr7:127570600-127615800	Weak transcription	Esophagus	oesophagus
6	chr7:127570600-127616400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr7:127570800-127599600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:127570800-127618200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:127571000-127615600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:127571000-127615800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:127571400-127617800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:127571600-127594400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:127571600-127618000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:127571800-127602800	Weak transcription	Aorta	Aorta
15	chr7:127576400-127607000	Weak transcription	Spleen	Spleen
16	chr7:127576400-127615800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:127578200-127616200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:127578800-127600200	Weak transcription	Stomach Mucosa	stomach
19	chr7:127579400-127592600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr7:127581000-127594200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:127581200-127615400	Weak transcription	Gastric	stomach
22	chr7:127583200-127630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:127583800-127595800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:127583800-127599000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:127584000-127594000	Weak transcription	Adipose Nuclei	Adipose
26	chr7:127584000-127600000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:127584200-127593400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:127584200-127600000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:127584200-127607000	Weak transcription	Right Ventricle	heart
30	chr7:127584600-127593800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:127584600-127595800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:127584600-127596000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:127584600-127596000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr7:127584600-127607000	Weak transcription	Left Ventricle	heart
35	chr7:127584600-127607000	Weak transcription	Lung	lung
36	chr7:127584600-127609000	Weak transcription	Pancreas	Pancrea
37	chr7:127584600-127612400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:127584600-127617800	Weak transcription	Hela-S3	cervix
39	chr7:127584800-127593400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:127584800-127595800	Weak transcription	Fetal Thymus	thymus
41	chr7:127585000-127607000	Weak transcription	HSMMtube	muscle
42	chr7:127585200-127593800	Weak transcription	Primary T cells from cord blood	blood
43	chr7:127585200-127594800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:127585200-127595600	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:127585200-127595800	Weak transcription	NHEK	skin
46	chr7:127585200-127600000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr7:127585200-127600000	Weak transcription	HMEC	breast
48	chr7:127585200-127607200	Weak transcription	Psoas Muscle	Psoas
49	chr7:127585200-127616400	Weak transcription	Thymus	Thymus
50	chr7:127585200-127616600	Weak transcription	A549	lung

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