Variant report

Variant	rs1037351
Chromosome Location	chr7:50565404-50565405
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	chr7:50564851..50566745-chr7:50568557..50570240,2	K562	blood:
2	chr7:50565140..50566781-chr7:50570058..50572270,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11575375	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11575387	0.82[JPT][hapmap];0.89[LWK][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs11575388	0.82[JPT][hapmap]
rs11575422	0.84[AFR][1000 genomes]
rs11575450	0.81[JPT][hapmap]
rs17133842	0.82[JPT][hapmap]
rs17133853	0.92[LWK][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs17152014	0.82[JPT][hapmap]
rs17152020	0.84[AFR][1000 genomes]
rs1817074	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs2167364	0.92[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.93[TSI][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2198144	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs3779084	0.82[CHB][hapmap];0.91[JPT][hapmap];0.89[LWK][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4490786	0.81[YRI][hapmap]
rs4947584	0.85[CEU][hapmap];0.91[GIH][hapmap];0.82[EUR][1000 genomes]
rs58085392	0.80[AFR][1000 genomes]
rs58612109	0.86[EUR][1000 genomes]
rs6951648	0.91[JPT][hapmap];0.92[LWK][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes]
rs6957607	0.81[AFR][1000 genomes]
rs7791875	0.82[JPT][hapmap]
rs7809758	0.85[CEU][hapmap];0.95[GIH][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs880028	0.82[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv606905	chr7:50544063-50565963	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS 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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1037351	ZNFN1A1	cis	multi-tissue	Pritchard

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50543600-50595000	Weak transcription	Liver	Liver
2	chr7:50545800-50565800	Weak transcription	HepG2	liver
3	chr7:50560600-50566200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:50560800-50581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:50562800-50566000	Enhancers	Fetal Intestine Large	intestine
6	chr7:50562800-50566200	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:50562800-50566200	Genic enhancers	Fetal Intestine Small	intestine
8	chr7:50563600-50566200	Enhancers	Duodenum Mucosa	Duodenum
9	chr7:50563800-50566000	Enhancers	Stomach Mucosa	stomach
10	chr7:50564000-50566200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:50564000-50566200	Enhancers	Ovary	ovary
12	chr7:50564200-50565600	Enhancers	Psoas Muscle	Psoas
13	chr7:50564200-50565600	Enhancers	Spleen	Spleen
14	chr7:50564200-50565800	Flanking Active TSS	HUVEC	blood vessel
15	chr7:50564200-50566200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:50564200-50566200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr7:50564400-50565600	Enhancers	Colonic Mucosa	Colon
18	chr7:50564400-50565600	Enhancers	Osteobl	bone
19	chr7:50564400-50566200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:50564400-50566200	Enhancers	Adipose Nuclei	Adipose
21	chr7:50564400-50566200	Enhancers	Small Intestine	intestine
22	chr7:50564600-50565600	Enhancers	HSMM	muscle
23	chr7:50564600-50566000	Enhancers	NHDF-Ad	bronchial
24	chr7:50564600-50566200	Enhancers	NHEK	skin
25	chr7:50564800-50565600	Enhancers	Fetal Lung	lung
26	chr7:50564800-50565800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:50564800-50566200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:50565000-50565600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:50565000-50565600	Enhancers	Fetal Stomach	stomach
30	chr7:50565000-50566600	Enhancers	HMEC	breast
31	chr7:50565200-50565600	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:50565200-50566200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:50565200-50566200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:50565200-50566200	Enhancers	K562	blood
35	chr7:50565200-50566800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:50565200-50568600	Weak transcription	Gastric	stomach
37	chr7:50565200-50569800	Weak transcription	Right Atrium	heart
38	chr7:50565200-50570000	Weak transcription	Left Ventricle	heart
39	chr7:50565200-50570200	Weak transcription	Lung	lung
40	chr7:50565200-50572600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr7:50565400-50566000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:50565400-50566400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr7:50565400-50568600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:50565400-50569800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:50565400-50570000	Weak transcription	Pancreas	Pancrea
47	chr7:50565400-50570000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr7:50565400-50570000	Enhancers	Hela-S3	cervix

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