Variant report

Variant	rs17546034
Chromosome Location	chr7:50724733-50724734
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	chr7:50723989..50725501-chr7:50744305..50746937,2	K562	blood:
2	chr7:50718738..50720248-chr7:50723187..50725493,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs17152083	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs17449259	0.87[AMR][1000 genomes]
rs17544866	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17544971	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17545714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17546062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17546146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17546202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17546223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17547664	0.88[CHB][hapmap]
rs17547986	0.88[CHB][hapmap]
rs17548938	0.85[CHB][hapmap]
rs2190496	0.89[CHB][hapmap]
rs3819431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245558	0.88[CHB][hapmap]
rs4612291	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947816	0.88[CHB][hapmap]
rs55716906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55857758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56037477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60767324	1.00[ASN][1000 genomes]
rs6948959	0.89[CHB][hapmap]
rs73113031	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73113047	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73113061	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73113067	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73113068	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73113089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73113093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73113096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73113099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73114804	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73114807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73114809	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73114873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114877	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114878	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114889	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114899	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114901	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7456111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs956117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50694200-50729200	Weak transcription	Hela-S3	cervix
2	chr7:50701000-50733600	Weak transcription	A549	lung
3	chr7:50701200-50728800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:50701200-50731200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:50701200-50733600	Weak transcription	K562	blood
6	chr7:50701400-50729000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:50706400-50744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:50707200-50748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:50707800-50727600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:50708200-50729400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:50709200-50727400	Weak transcription	Fetal Intestine Small	intestine
12	chr7:50710000-50733200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:50710000-50743600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:50710200-50729400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:50713000-50725400	Weak transcription	Fetal Brain Female	brain
17	chr7:50715600-50740600	Weak transcription	Brain Germinal Matrix	brain
18	chr7:50716200-50726000	Enhancers	Left Ventricle	heart
19	chr7:50716600-50727800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:50716600-50740200	Weak transcription	Fetal Intestine Large	intestine
21	chr7:50717200-50729400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:50717800-50727200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:50718400-50727400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:50718600-50728000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:50718600-50729200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:50719400-50726200	Enhancers	Brain Angular Gyrus	brain
27	chr7:50719800-50729000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:50720000-50726200	Enhancers	Brain Anterior Caudate	brain
29	chr7:50720000-50726200	Enhancers	Brain Cingulate Gyrus	brain
30	chr7:50720000-50726400	Enhancers	Brain Substantia Nigra	brain
31	chr7:50720400-50725400	Enhancers	Colon Smooth Muscle	Colon
32	chr7:50720600-50739400	Enhancers	Right Atrium	heart
33	chr7:50720800-50724800	Enhancers	Psoas Muscle	Psoas
34	chr7:50720800-50724800	Enhancers	Right Ventricle	heart
35	chr7:50721400-50725800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:50721400-50727800	Weak transcription	Primary T cells from cord blood	blood
37	chr7:50721400-50729200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:50721600-50726000	Enhancers	Brain Hippocampus Middle	brain
39	chr7:50721600-50727600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr7:50721800-50725600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr7:50722000-50725600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:50722000-50727200	Weak transcription	Thymus	Thymus
43	chr7:50722000-50727800	Weak transcription	Gastric	stomach
44	chr7:50722000-50737600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:50722200-50725600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr7:50722200-50727600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:50722200-50727600	Weak transcription	Fetal Thymus	thymus
48	chr7:50722200-50728800	Weak transcription	Fetal Brain Male	brain
49	chr7:50722400-50724800	Weak transcription	Osteobl	bone
50	chr7:50722400-50727000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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