Variant report

Variant	rs6759915
Chromosome Location	chr2:173370605-173370606
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	chr2:173369225..173371030-chr2:173375682..173378020,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225205	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16860502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860541	1.00[AMR][1000 genomes]
rs16860576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860643	0.95[AFR][1000 genomes]
rs35661499	1.00[AMR][1000 genomes]
rs41383947	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41482144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6721300	1.00[AMR][1000 genomes]
rs6730284	0.86[AFR][1000 genomes]
rs6741759	0.86[AFR][1000 genomes]
rs6745412	1.00[AMR][1000 genomes]
rs6748504	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71417403	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7602724	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173327800-173370800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:173329800-173371200	Weak transcription	Hela-S3	cervix
3	chr2:173330600-173371400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:173330600-173372200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:173330600-173373200	Strong transcription	NHEK	skin
6	chr2:173330600-173373400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:173330600-173373400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:173330600-173373600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:173330600-173374200	Weak transcription	Stomach Mucosa	stomach
10	chr2:173331000-173373200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:173331000-173373400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:173331000-173373800	Strong transcription	HMEC	breast
13	chr2:173331200-173372000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:173346400-173371400	Weak transcription	NHLF	lung
15	chr2:173347800-173371600	Weak transcription	Fetal Brain Male	brain
16	chr2:173347800-173376200	Weak transcription	Fetal Heart	heart
17	chr2:173352000-173371400	Weak transcription	Fetal Brain Female	brain
18	chr2:173352000-173374200	Weak transcription	Fetal Lung	lung
19	chr2:173352400-173371400	Weak transcription	Psoas Muscle	Psoas
20	chr2:173356400-173379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:173356600-173371400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:173356600-173375400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:173356800-173374600	Weak transcription	Fetal Kidney	kidney
24	chr2:173356800-173376000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:173356800-173376200	Weak transcription	Brain Substantia Nigra	brain
26	chr2:173357000-173371000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:173357000-173371200	Weak transcription	Ovary	ovary
28	chr2:173357000-173373000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:173357000-173376000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:173357000-173376000	Weak transcription	Aorta	Aorta
31	chr2:173357200-173376600	Weak transcription	Right Ventricle	heart
32	chr2:173357600-173371400	Weak transcription	NH-A	brain
33	chr2:173357600-173376200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:173358000-173376200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:173359200-173371400	Weak transcription	Lung	lung
36	chr2:173359200-173372400	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:173360400-173371400	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:173360800-173371800	Weak transcription	Thymus	Thymus
39	chr2:173361000-173371000	Weak transcription	Fetal Stomach	stomach
40	chr2:173361000-173375600	Weak transcription	Spleen	Spleen
41	chr2:173361200-173371000	Weak transcription	Small Intestine	intestine
42	chr2:173361200-173373600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr2:173361200-173375200	Weak transcription	GM12878-XiMat	blood
44	chr2:173361800-173373400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:173362600-173371200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:173362800-173372600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:173362800-173372800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr2:173363600-173372600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:173363800-173371000	Weak transcription	A549	lung
50	chr2:173364600-173372000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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