Variant report

Variant	rs4845031
Chromosome Location	chr1:210620164-210620165
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	chr1:210618870..210621785-chr1:211306135..211307908,2	MCF-7	breast:
2	chr1:210545794..210547749-chr1:210620055..210622714,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143473	Chromatin interaction
ENSG00000234233	Chromatin interaction
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11809771	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11810188	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12025108	0.90[AFR][1000 genomes]
rs12119492	0.85[AFR][1000 genomes]
rs12408887	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103692	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2206609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357590	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34549224	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765846	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845015	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4845017	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4845028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845030	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4845032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56252446	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72745472	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72745499	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs742562	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527066	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7534912	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7534914	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs910030	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910031	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910032	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926578	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[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	esv2756883	chr1:210579523-210620779	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	esv2758995	chr1:210579523-210620779	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv999833	chr1:210604734-210620211	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210571400-210641000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:210592800-210625000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:210611600-210639600	Weak transcription	Aorta	Aorta
4	chr1:210614600-210641200	Weak transcription	Gastric	stomach
5	chr1:210614800-210623800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:210618400-210620800	Enhancers	Thymus	Thymus
7	chr1:210618400-210621400	Genic enhancers	HSMM	muscle
8	chr1:210618800-210620200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:210618800-210620200	Enhancers	Fetal Muscle Leg	muscle
10	chr1:210618800-210620600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:210619000-210620200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:210619000-210620200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:210619000-210620200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:210619000-210620200	Enhancers	Primary T cells from cord blood	blood
15	chr1:210619000-210620200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:210619000-210620200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:210619000-210620400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:210619000-210620400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr1:210619000-210620400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:210619000-210620400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:210619000-210620600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:210619000-210620800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr1:210619000-210621800	Enhancers	Fetal Thymus	thymus
24	chr1:210619200-210620200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr1:210619200-210620400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:210619200-210620600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:210619400-210620200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:210619400-210620200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr1:210619400-210620200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:210619400-210620200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:210619400-210620200	Enhancers	Fetal Muscle Trunk	muscle
32	chr1:210619400-210620200	Enhancers	NH-A	brain
33	chr1:210619400-210620400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:210619600-210620200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:210619600-210620200	Enhancers	Osteobl	bone
36	chr1:210619800-210620200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:210619800-210620200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:210619800-210620200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:210619800-210620200	Enhancers	Esophagus	oesophagus
40	chr1:210619800-210620200	Flanking Active TSS	Dnd41	blood
41	chr1:210619800-210620400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr1:210619800-210621400	Enhancers	A549	lung
43	chr1:210620000-210622200	Enhancers	HSMMtube	muscle

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