Variant report

Variant	rs3134814
Chromosome Location	chr1:152084984-152084985
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:152083017..152085583-chr1:152100837..152102979,2	MCF-7	breast:
2	chr1:152082811..152085581-chr1:152092472..152094632,2	MCF-7	breast:
3	chr1:152083046..152085813-chr1:152103196..152106111,3	MCF-7	breast:
4	chr1:152058557..152062058-chr1:152082903..152085603,4	MCF-7	breast:
5	chr1:152078746..152081209-chr1:152082799..152085441,3	K562	blood:

Variant related genes	Relation type
ENSG00000182898	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1038746	1.00[CHB][hapmap]
rs1038748	1.00[CHB][hapmap]
rs10888453	1.00[CHB][hapmap]
rs11204923	1.00[CHB][hapmap]
rs11578030	1.00[CHB][hapmap]
rs1387834	1.00[CHB][hapmap]
rs1387835	1.00[CHB][hapmap]
rs1490191	1.00[CHB][hapmap]
rs1496037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1552606	1.00[CHB][hapmap]
rs1552607	1.00[CHB][hapmap]
rs1602245	1.00[CHB][hapmap]
rs1602248	1.00[CHB][hapmap]
rs17583707	1.00[CHB][hapmap]
rs1873311	1.00[CHB][hapmap]
rs1967085	1.00[CHB][hapmap]
rs2338018	1.00[CHB][hapmap]
rs2932563	1.00[CHB][hapmap]
rs2932567	1.00[CHB][hapmap]
rs2932592	1.00[CHB][hapmap]
rs2999514	1.00[CHB][hapmap]
rs2999527	1.00[CHB][hapmap]
rs2999529	1.00[CHB][hapmap]
rs2999535	1.00[CHB][hapmap]
rs2999536	1.00[CHB][hapmap]
rs2999537	1.00[CHB][hapmap]
rs2999538	1.00[CHB][hapmap]
rs2999551	1.00[CHB][hapmap]
rs2999552	1.00[CHB][hapmap]
rs2999555	1.00[CHB][hapmap]
rs2999558	1.00[CHB][hapmap]
rs2999562	0.91[EUR][1000 genomes]
rs3001979	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs3007672	1.00[CHB][hapmap];0.83[AFR][1000 genomes]
rs3007673	0.85[AFR][1000 genomes]
rs3007676	1.00[CHB][hapmap]
rs3007679	1.00[CHB][hapmap]
rs3007690	1.00[CHB][hapmap]
rs3007700	1.00[CHB][hapmap]
rs3007701	1.00[CHB][hapmap]
rs3007704	1.00[CHB][hapmap]
rs3104205	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3122300	1.00[CHB][hapmap]
rs3122301	1.00[CHB][hapmap]
rs58503750	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6587641	1.00[CHB][hapmap]
rs6659029	1.00[CHB][hapmap]
rs959945	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv872442	chr1:152054120-152187641	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152079800-152085400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:152079800-152085400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
3	chr1:152080000-152085000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
4	chr1:152080000-152085600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:152081400-152085200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
6	chr1:152081400-152085400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:152081600-152085200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:152081600-152085400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
9	chr1:152082200-152085000	Active TSS	Brain Anterior Caudate	brain
10	chr1:152082200-152085400	Flanking Active TSS	Right Ventricle	heart
11	chr1:152082400-152085000	Flanking Active TSS	HMEC	breast
12	chr1:152082400-152085400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr1:152082600-152085000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:152082800-152085000	Flanking Active TSS	Pancreas	Pancrea
15	chr1:152082800-152085400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:152082800-152085400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:152082800-152085400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
18	chr1:152082800-152085600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr1:152083000-152085000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr1:152083000-152085400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:152083200-152085000	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr1:152083200-152085200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:152083400-152085200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:152083600-152085200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:152083800-152085200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:152083800-152085200	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
27	chr1:152083800-152085600	Bivalent Enhancer	Fetal Heart	heart
28	chr1:152084000-152085200	Active TSS	HSMMtube	muscle
29	chr1:152084000-152085400	Enhancers	Liver	Liver
30	chr1:152084000-152085400	Enhancers	Lung	lung
31	chr1:152084000-152085400	Enhancers	Spleen	Spleen
32	chr1:152084200-152085000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:152084200-152085000	Active TSS	Ovary	ovary
34	chr1:152084200-152085200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr1:152084200-152085200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
36	chr1:152084200-152085200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
37	chr1:152084200-152085200	Bivalent/Poised TSS	NHLF	lung
38	chr1:152084200-152085400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:152084200-152085600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr1:152084200-152085600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:152084400-152085000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr1:152084400-152085000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:152084400-152085000	Bivalent Enhancer	Placenta	Placenta
44	chr1:152084400-152085000	Bivalent/Poised TSS	NHDF-Ad	bronchial
45	chr1:152084400-152085400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
46	chr1:152084400-152085400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:152084400-152085600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
48	chr1:152084600-152085000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:152084600-152085200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:152084600-152085200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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