Variant report

Variant	rs6663431
Chromosome Location	chr1:193057207-193057208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193056542..193059749-chr1:193072795..193074654,3	MCF-7	breast:
2	chr1:193052100..193054101-chr1:193055616..193057819,2	K562	blood:
3	chr1:193051806..193058060-chr1:193058254..193062557,7	K562	blood:
4	chr1:193025729..193028290-chr1:193056532..193059117,3	K562	blood:

Variant related genes	Relation type
ENSG00000023572	Chromatin interaction
ENSG00000272579	Chromatin interaction
ENSG00000238754	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10494674	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10733078	0.95[ASN][1000 genomes]
rs10737620	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10737621	0.86[ASN][1000 genomes]
rs10737622	0.83[ASN][1000 genomes]
rs10754044	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10754046	0.85[ASN][1000 genomes]
rs10754047	0.86[ASN][1000 genomes]
rs10754048	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10754049	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10801167	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10801173	1.00[ASN][1000 genomes]
rs10801174	0.96[ASN][1000 genomes]
rs10801175	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10801177	0.85[ASN][1000 genomes]
rs10801178	0.83[ASN][1000 genomes]
rs10801179	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10801180	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10801182	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10801183	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10801184	0.82[ASN][1000 genomes]
rs10921304	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10921305	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10921308	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10921310	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10921312	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10921313	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10921317	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10921319	0.84[ASN][1000 genomes]
rs11577299	0.83[ASN][1000 genomes]
rs11583763	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12086884	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12090626	0.83[ASN][1000 genomes]
rs12126529	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12137318	0.84[ASN][1000 genomes]
rs12141392	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12145057	0.84[ASN][1000 genomes]
rs12735445	0.94[ASN][1000 genomes]
rs1539724	0.83[ASN][1000 genomes]
rs1555555	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1890660	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2181408	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2186016	0.84[ASN][1000 genomes]
rs2275444	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2370028	0.84[ASN][1000 genomes]
rs2370029	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2370079	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2370081	0.93[ASN][1000 genomes]
rs3753948	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3806351	0.87[ASN][1000 genomes]
rs3818865	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3820417	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3945872	0.96[ASN][1000 genomes]
rs4450000	0.85[ASN][1000 genomes]
rs4657744	0.84[ASN][1000 genomes]
rs4657745	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4657840	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4657842	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4657843	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657845	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4657846	0.87[ASN][1000 genomes]
rs4657847	0.87[ASN][1000 genomes]
rs4658079	0.93[ASN][1000 genomes]
rs6428151	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6428152	0.82[ASN][1000 genomes]
rs6665069	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6671237	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6672649	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6676322	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6676416	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6692342	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6692805	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6703727	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7514072	0.84[ASN][1000 genomes]
rs7519242	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7534257	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7542466	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7547615	0.96[ASN][1000 genomes]
rs7553247	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs912070	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs912071	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9427838	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9783104	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	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	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193033200-193067600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:193044800-193061200	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:193045200-193070200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:193046800-193070400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr1:193047000-193059000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:193047000-193062600	Weak transcription	Small Intestine	intestine
7	chr1:193047000-193066000	Weak transcription	Right Ventricle	heart
8	chr1:193047400-193071400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:193047600-193059200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:193048200-193072600	Weak transcription	Stomach Mucosa	stomach
11	chr1:193048600-193073000	Weak transcription	Fetal Brain Male	brain
12	chr1:193048800-193070000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:193050000-193061600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:193050800-193072600	Weak transcription	Fetal Heart	heart
15	chr1:193051400-193066400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:193052200-193066600	Weak transcription	Gastric	stomach
17	chr1:193052200-193067200	Weak transcription	Pancreas	Pancrea
18	chr1:193052800-193066600	Weak transcription	Brain Angular Gyrus	brain
19	chr1:193052800-193068400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:193052800-193068600	Weak transcription	Fetal Kidney	kidney
21	chr1:193052800-193072600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:193053000-193062600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:193053000-193063000	Weak transcription	HSMMtube	muscle
24	chr1:193053000-193063200	Weak transcription	Fetal Intestine Small	intestine
25	chr1:193053000-193063200	Weak transcription	Fetal Stomach	stomach
26	chr1:193053000-193067200	Weak transcription	Lung	lung
27	chr1:193053000-193067400	Weak transcription	NHEK	skin
28	chr1:193053000-193068600	Weak transcription	Spleen	Spleen
29	chr1:193053000-193069000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:193053000-193072200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:193053000-193073200	Weak transcription	Esophagus	oesophagus
32	chr1:193053200-193063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:193053200-193063200	Weak transcription	Aorta	Aorta
34	chr1:193053200-193066400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:193053400-193072000	Weak transcription	Psoas Muscle	Psoas
36	chr1:193053600-193063400	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:193053600-193072600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:193053800-193061800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:193053800-193063200	Weak transcription	Primary T cells from cord blood	blood
40	chr1:193054000-193061800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:193054000-193061800	Weak transcription	Left Ventricle	heart
42	chr1:193054000-193063200	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:193054000-193063600	Weak transcription	Fetal Brain Female	brain
44	chr1:193054000-193065600	Weak transcription	HepG2	liver
45	chr1:193054000-193068400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:193054000-193068600	Weak transcription	Thymus	Thymus
47	chr1:193054200-193059200	Weak transcription	A549	lung
48	chr1:193054200-193062000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:193054200-193062200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr1:193054200-193063000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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