Variant report

Variant	rs2279628
Chromosome Location	chr6:151031950-151031951
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	chr6:151031833..151034692-chr6:151036440..151039323,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12664155	1.00[CEU][hapmap]
rs17080212	1.00[CEU][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs17080238	1.00[CEU][hapmap];0.86[MEX][hapmap];0.82[AMR][1000 genomes]
rs1968998	0.82[AMR][1000 genomes]
rs1968999	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3734411	1.00[CEU][hapmap];0.86[MEX][hapmap]
rs4869689	0.85[CEU][hapmap];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4869693	0.86[AMR][1000 genomes]
rs4869932	0.85[CEU][hapmap]
rs4869934	0.83[EUR][1000 genomes]
rs4869935	1.00[CEU][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs4869936	0.83[EUR][1000 genomes]
rs4869938	0.83[EUR][1000 genomes]
rs4869939	0.83[EUR][1000 genomes]
rs5029652	0.83[EUR][1000 genomes]
rs6902743	0.83[EUR][1000 genomes]
rs72570328	0.80[AMR][1000 genomes]
rs72570331	0.80[AMR][1000 genomes]
rs72570332	0.80[AMR][1000 genomes]
rs72570334	0.80[AMR][1000 genomes]
rs7748886	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772795	1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9478786	0.83[EUR][1000 genomes]
rs9478787	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9478790	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9478791	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9480540	0.83[EUR][1000 genomes]
rs9480548	1.00[CEU][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs9480549	0.83[EUR][1000 genomes]
rs9480550	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9480551	1.00[CEU][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs9986516	0.83[EUR][1000 genomes]
rs9986520	0.83[EUR][1000 genomes]
rs9986597	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030326	chr6:150967665-151641372	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3439835	chr6:151027582-151036981	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1019919	chr6:151028969-151161789	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv538474	chr6:151028969-151161789	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:151015200-151033200	Weak transcription	Right Atrium	heart
2	chr6:151019000-151033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:151019000-151033200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:151019000-151035200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:151021600-151033000	Weak transcription	Fetal Stomach	stomach
6	chr6:151021600-151040600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:151024200-151034200	Weak transcription	Right Ventricle	heart
8	chr6:151024400-151032800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:151025600-151033200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:151026000-151033600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:151026800-151033200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:151026800-151043600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:151027000-151033200	Weak transcription	Fetal Intestine Small	intestine
14	chr6:151027200-151033000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:151027400-151033200	Weak transcription	Fetal Kidney	kidney
16	chr6:151029000-151033000	Weak transcription	Small Intestine	intestine
17	chr6:151029200-151033000	Weak transcription	Fetal Lung	lung
18	chr6:151029200-151033200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:151029400-151033200	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:151029400-151033200	Weak transcription	Placenta	Placenta
21	chr6:151029400-151041800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:151029600-151033000	Weak transcription	Spleen	Spleen
23	chr6:151029600-151033200	Weak transcription	Left Ventricle	heart
24	chr6:151029800-151032800	Weak transcription	Adipose Nuclei	Adipose
25	chr6:151029800-151033200	Strong transcription	Primary B cells from cord blood	blood
26	chr6:151030400-151032000	Strong transcription	Fetal Thymus	thymus
27	chr6:151030800-151034200	Enhancers	Stomach Mucosa	stomach
28	chr6:151031000-151032000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr6:151031200-151032200	Enhancers	Lung	lung
30	chr6:151031200-151032400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr6:151031200-151033200	Weak transcription	Pancreas	Pancrea
32	chr6:151031200-151034200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr6:151031400-151032000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:151031400-151032200	Enhancers	Colonic Mucosa	Colon
35	chr6:151031400-151032200	Enhancers	Gastric	stomach
36	chr6:151031400-151032400	Enhancers	Esophagus	oesophagus
37	chr6:151031400-151033000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr6:151031400-151033200	Weak transcription	NHEK	skin
39	chr6:151031600-151032200	Enhancers	Duodenum Mucosa	Duodenum
40	chr6:151031600-151032600	Strong transcription	Thymus	Thymus

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