Variant report

Variant	rs17151951
Chromosome Location	chr7:127924177-127924178
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127918920..127921450-chr7:127922562..127924355,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10233310	0.83[EUR][1000 genomes]
rs10245775	0.91[EUR][1000 genomes]
rs10251133	1.00[EUR][1000 genomes]
rs1026189	1.00[EUR][1000 genomes]
rs11972879	0.91[EUR][1000 genomes]
rs1466145	1.00[EUR][1000 genomes]
rs16871983	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151956	0.90[EUR][1000 genomes]
rs17151961	1.00[CEU][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151967	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151977	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2122628	1.00[EUR][1000 genomes]
rs2402886	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28437662	0.81[EUR][1000 genomes]
rs41281734	0.81[EUR][1000 genomes]
rs4731439	1.00[EUR][1000 genomes]
rs57006226	0.90[EUR][1000 genomes]
rs57272364	0.90[EUR][1000 genomes]
rs57403126	1.00[EUR][1000 genomes]
rs59168227	0.81[EUR][1000 genomes]
rs60525457	0.81[EUR][1000 genomes]
rs61733108	0.81[EUR][1000 genomes]
rs6943621	0.91[EUR][1000 genomes]
rs6952457	1.00[EUR][1000 genomes]
rs7778230	1.00[EUR][1000 genomes]
rs7778254	0.90[EUR][1000 genomes]
rs921399	1.00[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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv437031	chr7:127923778-127939461	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127912200-127925200	Weak transcription	Ovary	ovary
2	chr7:127917000-127945600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:127917200-127943200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:127919800-127926400	Weak transcription	Liver	Liver
5	chr7:127920200-127945200	Weak transcription	Right Ventricle	heart
6	chr7:127920600-127938800	Weak transcription	Right Atrium	heart
7	chr7:127920600-127941000	Weak transcription	Primary T cells from cord blood	blood
8	chr7:127920800-127931000	Weak transcription	Fetal Lung	lung
9	chr7:127921000-127926000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:127921400-127939000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:127921600-127928400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:127921800-127926000	Weak transcription	Fetal Stomach	stomach
13	chr7:127921800-127944400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:127922000-127926200	Weak transcription	HSMM	muscle
15	chr7:127922000-127940600	Weak transcription	Brain Anterior Caudate	brain
16	chr7:127922000-127942000	Weak transcription	Brain Angular Gyrus	brain
17	chr7:127922000-127944400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:127922200-127924800	Weak transcription	Esophagus	oesophagus
19	chr7:127922200-127926000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:127922200-127926600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:127922200-127926600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:127922200-127927000	Weak transcription	Brain Substantia Nigra	brain
23	chr7:127922200-127930800	Weak transcription	Brain Germinal Matrix	brain
24	chr7:127922200-127932600	Weak transcription	Fetal Intestine Small	intestine
25	chr7:127922200-127942000	Weak transcription	Left Ventricle	heart
26	chr7:127922200-127942200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:127922200-127943000	Weak transcription	Dnd41	blood
28	chr7:127922200-127943200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:127922400-127925400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:127922400-127932000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:127922400-127942000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:127923200-127929200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:127923800-127928400	Weak transcription	HSMMtube	muscle
34	chr7:127923800-127943200	Weak transcription	Pancreas	Pancrea
35	chr7:127924000-127924400	Enhancers	Fetal Muscle Leg	muscle
36	chr7:127924000-127926000	Weak transcription	Aorta	Aorta
37	chr7:127924000-127940000	Weak transcription	Fetal Muscle Trunk	muscle

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