Variant report

Variant	rs17547986
Chromosome Location	chr7:50778131-50778132
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50775453..50778536-chr7:50778993..50781858,3	MCF-7	breast:
2	chr7:50771946..50774688-chr7:50777766..50780192,2	K562	blood:
3	chr7:50771946..50774257-chr7:50776696..50780294,3	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10486758	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538863	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17152083	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17449280	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17450294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17546879	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17547506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17547664	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17548938	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237482	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2286155	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs41430449	0.92[GIH][hapmap]
rs4245558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947832	0.93[ASN][1000 genomes]
rs4947834	0.90[ASN][1000 genomes]
rs4947844	0.90[ASN][1000 genomes]
rs4947854	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs56118724	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56200772	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58198279	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60767324	0.84[EUR][1000 genomes]
rs61250449	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73113830	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73113860	0.90[ASN][1000 genomes]
rs73113863	0.90[ASN][1000 genomes]
rs73116822	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116823	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116829	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116888	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116890	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73116898	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118808	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118814	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118816	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118836	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118841	0.93[ASN][1000 genomes]
rs73122773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122790	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122793	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122798	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124705	0.93[ASN][1000 genomes]
rs73124711	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124720	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs757771	0.86[CHB][hapmap];0.90[ASN][1000 genomes]
rs757998	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791286	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:50750000-50778600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:50756200-50779200	Weak transcription	Osteobl	bone
4	chr7:50758800-50779400	Weak transcription	Fetal Kidney	kidney
5	chr7:50763400-50806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:50764000-50778800	Weak transcription	HSMM	muscle
7	chr7:50766400-50779800	Weak transcription	Brain Germinal Matrix	brain
8	chr7:50766400-50783200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:50766400-50785800	Weak transcription	Small Intestine	intestine
10	chr7:50766600-50779000	Weak transcription	Fetal Lung	lung
11	chr7:50770400-50778800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:50770400-50779000	Weak transcription	Ovary	ovary
13	chr7:50770600-50779200	Weak transcription	NH-A	brain
14	chr7:50770600-50779200	Weak transcription	NHDF-Ad	bronchial
15	chr7:50770600-50779600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:50770600-50779600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:50771400-50779600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:50771600-50780200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:50772000-50791600	Weak transcription	K562	blood
20	chr7:50773000-50780400	Weak transcription	Fetal Brain Female	brain
21	chr7:50773000-50780800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:50773000-50781200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:50773000-50789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:50773600-50788600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:50773800-50786600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:50774200-50779800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:50774400-50779800	Enhancers	Lung	lung
29	chr7:50774400-50780200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:50774600-50779000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:50774600-50781000	Weak transcription	Aorta	Aorta
32	chr7:50774600-50782400	Weak transcription	HMEC	breast
33	chr7:50774800-50778800	Weak transcription	Placenta	Placenta
34	chr7:50774800-50779000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:50774800-50789200	Weak transcription	NHLF	lung
36	chr7:50775000-50778800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:50775200-50779000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:50775200-50779000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:50775600-50778800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:50775600-50779000	Weak transcription	Adipose Nuclei	Adipose
41	chr7:50776200-50778400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:50776400-50786000	Weak transcription	HUVEC	blood vessel
43	chr7:50776600-50778600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr7:50776600-50779000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr7:50776800-50778400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:50776800-50778600	Strong transcription	Fetal Intestine Small	intestine
47	chr7:50776800-50778800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:50776800-50778800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:50776800-50779000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:50776800-50779400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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