Variant report

Variant	rs7534257
Chromosome Location	chr1:193043694-193043695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193043234..193047012-chr1:193048456..193052530,5	K562	blood:
2	chr1:193035123..193037127-chr1:193042609..193044640,2	K562	blood:
3	chr1:193031920..193034246-chr1:193042222..193043830,2	MCF-7	breast:
4	chr1:193027593..193031183-chr1:193040127..193045745,5	MCF-7	breast:
5	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
6	chr1:193018810..193043703-chr1:193079188..193098601,93	K562	blood:

Variant related genes	Relation type
ENSG00000023572	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000134371	Chromatin interaction

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

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

rs_ID	r²[population]
rs10733078	0.86[ASN][1000 genomes]
rs10737620	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10801167	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10801173	0.90[ASN][1000 genomes]
rs10801174	0.87[ASN][1000 genomes]
rs10801175	0.84[ASN][1000 genomes]
rs10921304	0.86[AMR][1000 genomes]
rs10921305	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10921308	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10921310	0.87[ASN][1000 genomes]
rs10921312	0.87[ASN][1000 genomes]
rs10921313	0.87[ASN][1000 genomes]
rs11583763	0.86[ASN][1000 genomes]
rs12086884	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12141392	0.88[ASN][1000 genomes]
rs12735445	0.88[ASN][1000 genomes]
rs1555555	0.90[ASN][1000 genomes]
rs1890660	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2181408	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2275444	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2370079	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2370081	0.86[ASN][1000 genomes]
rs3753948	0.90[ASN][1000 genomes]
rs3818865	0.86[ASN][1000 genomes]
rs3820417	0.86[ASN][1000 genomes]
rs3945872	0.90[ASN][1000 genomes]
rs4657840	0.86[ASN][1000 genomes]
rs4657842	0.90[ASN][1000 genomes]
rs4657843	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4657845	0.87[ASN][1000 genomes]
rs4658079	0.86[ASN][1000 genomes]
rs6663431	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6665069	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6671237	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6672649	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6676322	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6676416	0.90[ASN][1000 genomes]
rs6692342	0.90[ASN][1000 genomes]
rs6692805	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6703727	0.86[ASN][1000 genomes]
rs7542466	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7547615	0.87[ASN][1000 genomes]
rs7553247	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs912070	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs912071	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9427838	0.91[ASN][1000 genomes]
rs9783104	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv998429	chr1:192961698-193050515	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193029400-193046400	Weak transcription	Gastric	stomach
2	chr1:193029400-193051800	Weak transcription	Esophagus	oesophagus
3	chr1:193029400-193051800	Weak transcription	Pancreas	Pancrea
4	chr1:193029800-193046400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:193030000-193046800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:193030200-193046000	Weak transcription	Thymus	Thymus
7	chr1:193030400-193045000	Weak transcription	Placenta	Placenta
8	chr1:193030400-193045200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:193030400-193046400	Weak transcription	Fetal Stomach	stomach
10	chr1:193030400-193046400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:193030400-193051600	Weak transcription	Colonic Mucosa	Colon
12	chr1:193030600-193046200	Weak transcription	Fetal Kidney	kidney
13	chr1:193030600-193048200	Weak transcription	Fetal Intestine Small	intestine
14	chr1:193030800-193045400	Weak transcription	NHDF-Ad	bronchial
15	chr1:193030800-193045600	Weak transcription	NHLF	lung
16	chr1:193030800-193045800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:193030800-193046000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:193030800-193046400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:193030800-193046400	Weak transcription	HSMMtube	muscle
20	chr1:193030800-193050400	Weak transcription	Brain Substantia Nigra	brain
21	chr1:193031200-193046800	Weak transcription	Fetal Brain Male	brain
22	chr1:193031400-193046000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:193032000-193046400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:193033200-193046000	Weak transcription	Small Intestine	intestine
25	chr1:193033200-193046400	Weak transcription	Right Ventricle	heart
26	chr1:193033200-193067600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:193033400-193046400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:193033400-193046600	Weak transcription	HMEC	breast
29	chr1:193033600-193045800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:193033600-193046600	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:193035800-193046400	Weak transcription	Aorta	Aorta
32	chr1:193037800-193051600	Weak transcription	Ovary	ovary
33	chr1:193038600-193046400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:193038800-193044800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:193038800-193046000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:193038800-193046400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:193038800-193046600	Weak transcription	NHEK	skin
38	chr1:193039000-193046400	Weak transcription	Brain Angular Gyrus	brain
39	chr1:193039000-193046400	Weak transcription	HUVEC	blood vessel
40	chr1:193039200-193045200	Weak transcription	Primary B cells from cord blood	blood
41	chr1:193039200-193045600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:193039200-193045800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:193039200-193045800	Weak transcription	Liver	Liver
44	chr1:193039200-193045800	Weak transcription	Osteobl	bone
45	chr1:193039200-193046000	Weak transcription	Fetal Intestine Large	intestine
46	chr1:193039200-193046000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:193039200-193046400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:193039200-193046400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:193039200-193051800	Weak transcription	Lung	lung
50	chr1:193039400-193045800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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