Variant report

Variant	rs2995257
Chromosome Location	chr1:212505155-212505156
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212505148..212507116-chr1:212513885..212516139,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12725070	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1444692	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1774252	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2921127	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2921128	0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2921129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2995255	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2995256	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2995258	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3099111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351383	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs351392	1.00[YRI][hapmap]
rs351395	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs351397	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs351416	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs351420	0.80[EUR][1000 genomes]
rs4554777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951584	0.94[CEU][hapmap]
rs6674587	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs701906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs701907	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs701908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs792433	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs792434	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs792440	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs792441	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs792442	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs792443	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs812074	0.93[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv1806604	chr1:212468974-212505860	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212464800-212506400	Weak transcription	Esophagus	oesophagus
2	chr1:212466200-212506400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:212467400-212526000	Weak transcription	A549	lung
4	chr1:212479200-212525400	Weak transcription	Aorta	Aorta
5	chr1:212484000-212506600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:212484200-212507000	Weak transcription	HepG2	liver
7	chr1:212484400-212506800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:212484600-212507200	Weak transcription	Right Ventricle	heart
9	chr1:212486000-212507000	Weak transcription	Brain Anterior Caudate	brain
10	chr1:212486200-212526000	Weak transcription	HUVEC	blood vessel
11	chr1:212486600-212506800	Weak transcription	Ovary	ovary
12	chr1:212487200-212506600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:212489600-212506800	Weak transcription	NHDF-Ad	bronchial
14	chr1:212489600-212554800	Weak transcription	Small Intestine	intestine
15	chr1:212489800-212505400	Weak transcription	Fetal Lung	lung
16	chr1:212489800-212506800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:212489800-212506800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:212490000-212507800	Weak transcription	Brain Angular Gyrus	brain
19	chr1:212492400-212506800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:212493800-212506000	Weak transcription	K562	blood
21	chr1:212493800-212506800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:212493800-212507200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:212493800-212533400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:212496800-212506400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:212497000-212507200	Weak transcription	Fetal Brain Female	brain
26	chr1:212497600-212506800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:212497800-212505400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:212497800-212505600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:212497800-212506800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:212498000-212507200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:212498000-212526200	Weak transcription	Fetal Brain Male	brain
32	chr1:212498800-212506800	Weak transcription	Brain Substantia Nigra	brain
33	chr1:212499800-212525400	Weak transcription	Gastric	stomach
34	chr1:212500000-212506400	Weak transcription	Lung	lung
35	chr1:212500000-212540400	Weak transcription	Stomach Mucosa	stomach
36	chr1:212500200-212507000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:212500600-212506400	Weak transcription	Placenta	Placenta
38	chr1:212501000-212506800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:212501000-212506800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:212501000-212533600	Weak transcription	Fetal Heart	heart
41	chr1:212501400-212525800	Weak transcription	Pancreas	Pancrea
42	chr1:212501400-212526200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:212501400-212540800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:212501600-212506400	Weak transcription	Left Ventricle	heart
45	chr1:212501600-212506800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:212501800-212506600	Weak transcription	Osteobl	bone
47	chr1:212501800-212506800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:212501800-212507200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:212501800-212510800	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:212501800-212540800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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