Variant report

Variant	rs6691952
Chromosome Location	chr1:210771400-210771401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210770711..210771663-chr1:211306582..211307099,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234233	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11119543	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119544	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11119550	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12024921	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12034711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12036732	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12069347	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12745924	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4077408	0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4951722	0.85[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873149	chr1:210749312-210793972	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210756200-210771800	Weak transcription	Left Ventricle	heart
2	chr1:210761400-210771600	Weak transcription	Gastric	stomach
3	chr1:210770000-210774000	Enhancers	NHLF	lung
4	chr1:210770200-210774000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:210770400-210771400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:210770400-210771400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:210770400-210772200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:210770400-210772200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:210770400-210772400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:210770400-210772600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:210770400-210773400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:210770600-210771400	Enhancers	NHEK	skin
13	chr1:210770600-210772000	Enhancers	Placenta	Placenta
14	chr1:210770600-210772200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:210770600-210772200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:210770600-210772400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:210770600-210772400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:210770600-210772400	Enhancers	HMEC	breast
19	chr1:210770600-210772400	Enhancers	NH-A	brain
20	chr1:210770800-210771400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:210770800-210771400	Enhancers	Brain Hippocampus Middle	brain
22	chr1:210770800-210771800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:210770800-210772000	Enhancers	Esophagus	oesophagus
24	chr1:210770800-210772200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:210770800-210772200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:210770800-210772200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:210770800-210772200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:210770800-210772200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr1:210770800-210772200	Enhancers	K562	blood
30	chr1:210770800-210772400	Enhancers	Hela-S3	cervix
31	chr1:210771000-210771400	Enhancers	Brain Angular Gyrus	brain
32	chr1:210771000-210771600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:210771000-210771600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:210771000-210771600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:210771000-210771800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:210771000-210771800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:210771000-210772000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:210771000-210772000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr1:210771000-210772000	Flanking Active TSS	Osteobl	bone
40	chr1:210771000-210774600	Enhancers	HSMM	muscle
41	chr1:210771200-210771400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:210771200-210771400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:210771200-210771400	Enhancers	NHDF-Ad	bronchial
44	chr1:210771200-210771600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:210771200-210771600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:210771200-210771600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr1:210771200-210771600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:210771200-210771600	Active TSS	A549	lung
49	chr1:210771200-210775000	Enhancers	HSMMtube	muscle
50	chr1:210771200-210775800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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