Variant report

Variant	rs17080212
Chromosome Location	chr6:151048123-151048124
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	chr6:151041900..151044113-chr6:151046399..151049223,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120278	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12664155	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17080238	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1968998	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1968999	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2279628	1.00[CEU][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs3734411	1.00[CEU][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4869689	0.85[CEU][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4869692	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4869693	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4869932	0.85[CEU][hapmap]
rs4869935	1.00[CEU][hapmap]
rs72570328	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72570331	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72570332	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72570334	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72570349	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72570350	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7748886	1.00[CEU][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs7772795	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs9478787	1.00[JPT][hapmap]
rs9478790	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs9478791	1.00[CEU][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9480548	1.00[CEU][hapmap]
rs9480550	1.00[CEU][hapmap]
rs9480551	1.00[CEU][hapmap]

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	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	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
3	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:151033600-151050200	Weak transcription	Lung	lung
2	chr6:151035000-151066400	Weak transcription	Right Ventricle	heart
3	chr6:151039000-151058800	Weak transcription	Gastric	stomach
4	chr6:151040000-151055800	Weak transcription	HUVEC	blood vessel
5	chr6:151042400-151054400	Weak transcription	Placenta	Placenta
6	chr6:151042400-151074800	Weak transcription	Fetal Intestine Small	intestine
7	chr6:151042600-151085400	Weak transcription	Esophagus	oesophagus
8	chr6:151042800-151054800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:151043000-151052000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:151044400-151048400	Weak transcription	Aorta	Aorta
11	chr6:151044400-151055400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:151044600-151048600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:151045000-151054800	Weak transcription	Fetal Intestine Large	intestine
14	chr6:151045000-151055200	Weak transcription	Fetal Kidney	kidney
15	chr6:151045200-151050200	Weak transcription	Right Atrium	heart
16	chr6:151045200-151051600	Weak transcription	Spleen	Spleen
17	chr6:151045200-151054800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:151045200-151054800	Weak transcription	Ovary	ovary
19	chr6:151045200-151061000	Weak transcription	Brain Anterior Caudate	brain
20	chr6:151045400-151048200	Weak transcription	Primary B cells from cord blood	blood
21	chr6:151045400-151050600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:151045400-151053800	Weak transcription	Fetal Stomach	stomach
23	chr6:151045400-151054800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:151045400-151059400	Weak transcription	Fetal Lung	lung
25	chr6:151045600-151049400	Weak transcription	Thymus	Thymus
26	chr6:151045600-151050400	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:151046200-151055200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:151046400-151048200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:151046400-151048200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:151046400-151048400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr6:151046800-151054800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:151046800-151061200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:151047000-151061000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr6:151047400-151054800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:151047800-151048600	Strong transcription	Fetal Thymus	thymus
36	chr6:151047800-151048800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:151047800-151052200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:151048000-151049200	Enhancers	Brain Substantia Nigra	brain

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