Variant report

Variant	rs4657463
Chromosome Location	chr1:165657595-165657596
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165656454..165659398-chr1:165666338..165668915,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215838	Chromatin interaction
ENSG00000143149	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10494447	0.80[YRI][hapmap]
rs10753688	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10753689	0.91[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs10800123	0.80[YRI][hapmap]
rs10800132	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10800133	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10918229	0.80[YRI][hapmap]
rs10918242	0.97[ASN][1000 genomes]
rs10918245	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10918251	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918252	0.93[ASN][1000 genomes]
rs12021795	0.87[ASN][1000 genomes]
rs12033254	0.82[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs12036561	0.97[ASN][1000 genomes]
rs12037790	0.95[ASN][1000 genomes]
rs12084748	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12409168	0.95[ASN][1000 genomes]
rs12567331	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12728137	0.94[ASN][1000 genomes]
rs17482717	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1878074	0.80[YRI][hapmap]
rs3845536	0.85[ASN][1000 genomes]
rs4147605	0.80[YRI][hapmap]
rs4147611	0.80[YRI][hapmap]
rs4307543	0.97[ASN][1000 genomes]
rs4576644	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4578194	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4646883	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs4646885	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657466	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657468	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs71628390	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7541817	0.97[ASN][1000 genomes]
rs7546215	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7546322	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165606200-165659600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:165638000-165666800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:165638600-165665400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:165639200-165659800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:165644800-165658800	Strong transcription	HSMM	muscle
6	chr1:165645000-165660200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:165647800-165658400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:165650000-165666800	Weak transcription	Colonic Mucosa	Colon
9	chr1:165651600-165659600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:165651600-165665400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:165651600-165667200	Weak transcription	Gastric	stomach
12	chr1:165651800-165665200	Weak transcription	Brain Substantia Nigra	brain
13	chr1:165651800-165665200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:165651800-165665400	Weak transcription	Small Intestine	intestine
15	chr1:165652000-165664000	Weak transcription	Fetal Brain Male	brain
16	chr1:165652200-165665400	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:165652200-165665800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:165652200-165666000	Weak transcription	Fetal Kidney	kidney
19	chr1:165652200-165666800	Weak transcription	Lung	lung
20	chr1:165652400-165658800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:165652400-165659200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:165652400-165659400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:165652400-165659600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:165652400-165659600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:165652400-165659600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:165652400-165659600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:165652400-165659800	Weak transcription	Brain Angular Gyrus	brain
28	chr1:165652400-165665200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:165652400-165665400	Weak transcription	HMEC	breast
30	chr1:165652400-165665400	Weak transcription	NH-A	brain
31	chr1:165652400-165665800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:165652400-165665800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:165652400-165665800	Weak transcription	HSMMtube	muscle
34	chr1:165652400-165666800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:165652400-165666800	Weak transcription	Esophagus	oesophagus
36	chr1:165652400-165667000	Weak transcription	Pancreas	Pancrea
37	chr1:165652400-165667000	Weak transcription	Spleen	Spleen
38	chr1:165652600-165657600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:165652600-165666000	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:165652800-165657800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:165652800-165657800	Weak transcription	Ovary	ovary
42	chr1:165652800-165665400	Weak transcription	NHLF	lung
43	chr1:165652800-165666200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:165653000-165666000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:165653400-165658800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:165653400-165659800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:165653800-165659800	Weak transcription	Brain Germinal Matrix	brain
48	chr1:165653800-165665200	Weak transcription	NHEK	skin
49	chr1:165653800-165666000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr1:165654000-165659600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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