Variant report

Variant	rs61250449
Chromosome Location	chr7:50751121-50751122
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	chr7:50747289..50748950-chr7:50751098..50752627,2	K562	blood:
2	chr7:50746261..50749281-chr7:50749955..50753325,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10486758	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12538863	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17152083	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17449280	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17450294	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17546879	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17547506	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17547664	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17547986	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17548938	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2237482	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286155	0.86[ASN][1000 genomes]
rs4245558	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947816	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947832	0.90[ASN][1000 genomes]
rs4947834	0.86[ASN][1000 genomes]
rs4947844	0.86[ASN][1000 genomes]
rs4947854	0.86[ASN][1000 genomes]
rs56037477	0.80[ASN][1000 genomes]
rs56118724	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56200772	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58198279	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60767324	0.87[EUR][1000 genomes]
rs73113830	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73113860	0.86[ASN][1000 genomes]
rs73113863	0.86[ASN][1000 genomes]
rs73116822	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116823	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116829	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116888	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116890	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116898	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118808	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118814	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118816	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118830	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118836	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118841	0.90[ASN][1000 genomes]
rs73122773	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73122790	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73122793	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73122798	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73124705	0.90[ASN][1000 genomes]
rs73124711	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73124720	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs757771	0.86[ASN][1000 genomes]
rs757998	0.97[EUR][1000 genomes];0.97[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	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	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
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:50736600-50755200	Weak transcription	NHDF-Ad	bronchial
3	chr7:50738800-50765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:50742000-50753000	Weak transcription	Osteobl	bone
5	chr7:50742200-50758200	Weak transcription	Brain Germinal Matrix	brain
6	chr7:50742200-50765200	Weak transcription	NHLF	lung
7	chr7:50742400-50753600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:50742400-50755000	Weak transcription	Esophagus	oesophagus
9	chr7:50742400-50755000	Weak transcription	NH-A	brain
10	chr7:50742400-50755200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:50742600-50757000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:50742600-50762200	Weak transcription	Hela-S3	cervix
13	chr7:50742600-50763000	Weak transcription	HSMM	muscle
14	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
15	chr7:50742800-50756200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:50742800-50757600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:50743000-50755000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:50743000-50755200	Weak transcription	K562	blood
19	chr7:50743000-50756400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:50743200-50754600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:50743400-50753000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:50743400-50754200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:50743800-50754600	Weak transcription	Fetal Brain Female	brain
24	chr7:50744400-50753800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:50745000-50754600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:50745400-50752000	Enhancers	Liver	Liver
27	chr7:50745600-50753000	Weak transcription	Aorta	Aorta
28	chr7:50745600-50753800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:50745600-50761200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:50745800-50754800	Weak transcription	Fetal Brain Male	brain
31	chr7:50745800-50755400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:50745800-50769600	Weak transcription	Gastric	stomach
33	chr7:50746000-50765200	Weak transcription	Stomach Mucosa	stomach
34	chr7:50746400-50758400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:50747000-50752200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:50747000-50753800	Weak transcription	HSMMtube	muscle
37	chr7:50747400-50752200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:50747400-50753400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:50747600-50755200	Weak transcription	Ovary	ovary
40	chr7:50748000-50754600	Weak transcription	A549	lung
41	chr7:50748200-50758200	Weak transcription	Brain Anterior Caudate	brain
42	chr7:50749200-50753000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr7:50749200-50753800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:50749400-50751200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:50749600-50752200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:50749600-50752600	Weak transcription	Fetal Stomach	stomach
47	chr7:50749800-50751600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:50749800-50751600	Weak transcription	Fetal Intestine Large	intestine
49	chr7:50749800-50752200	Weak transcription	Adipose Nuclei	Adipose
50	chr7:50749800-50752200	Weak transcription	Fetal Intestine Small	intestine

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