Variant report

Variant	rs7595579
Chromosome Location	chr2:191349682-191349683
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191346074..191348706-chr2:191348723..191351195,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11683734	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687958	1.00[ASN][1000 genomes]
rs11688236	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12105680	1.00[ASN][1000 genomes]
rs16832766	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17745140	1.00[ASN][1000 genomes]
rs2736620	1.00[ASN][1000 genomes]
rs4146925	0.89[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4241290	0.89[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4303742	1.00[CEU][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340551	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4434029	1.00[CEU][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4468843	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4513326	1.00[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4536676	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4585059	0.89[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853511	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853704	1.00[ASN][1000 genomes]
rs4853706	1.00[ASN][1000 genomes]
rs4853707	1.00[ASN][1000 genomes]
rs4853715	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs5004460	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55942739	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56101840	1.00[ASN][1000 genomes]
rs56278738	1.00[ASN][1000 genomes]
rs6434392	0.88[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434393	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6434398	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707244	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728161	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736474	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744546	1.00[ASN][1000 genomes]
rs6751217	0.81[AFR][1000 genomes]
rs6755804	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570284	1.00[ASN][1000 genomes]
rs7586287	0.89[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600297	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603228	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605008	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967833	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	esv33134	chr2:191318791-191365710	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191306600-191351000	Weak transcription	Pancreas	Pancrea
2	chr2:191327600-191353000	Weak transcription	Primary B cells from cord blood	blood
3	chr2:191332800-191356200	Weak transcription	Aorta	Aorta
4	chr2:191332800-191364200	Weak transcription	Spleen	Spleen
5	chr2:191333400-191355400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:191334200-191370200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:191334400-191351000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:191334400-191352800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:191334400-191353400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:191334400-191355400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:191334800-191353200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:191334800-191394800	Weak transcription	HSMMtube	muscle
13	chr2:191335200-191353000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:191335200-191353600	Weak transcription	GM12878-XiMat	blood
15	chr2:191335400-191353000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:191335400-191366200	Weak transcription	Hela-S3	cervix
17	chr2:191335600-191353000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:191336000-191354200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:191336600-191353000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr2:191336600-191353000	Weak transcription	Dnd41	blood
21	chr2:191336600-191353200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:191336600-191353600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:191336800-191353000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:191342800-191356000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:191343000-191350800	Weak transcription	Psoas Muscle	Psoas
26	chr2:191343000-191353200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:191343000-191372000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:191343200-191351000	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:191343200-191356000	Weak transcription	Fetal Kidney	kidney
30	chr2:191343400-191352400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:191343400-191354200	Weak transcription	Liver	Liver
32	chr2:191343400-191354200	Weak transcription	Fetal Brain Female	brain
33	chr2:191343400-191373800	Weak transcription	Colonic Mucosa	Colon
34	chr2:191343600-191353000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:191343600-191356000	Weak transcription	K562	blood
36	chr2:191343800-191351000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:191343800-191353600	Weak transcription	Ovary	ovary
38	chr2:191343800-191354200	Weak transcription	Esophagus	oesophagus
39	chr2:191344000-191350800	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:191344000-191352800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:191344200-191351000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:191344600-191350800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:191345400-191350000	Enhancers	Brain Cingulate Gyrus	brain
44	chr2:191346400-191353600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:191346400-191354200	Weak transcription	Lung	lung
46	chr2:191346600-191353200	Weak transcription	Left Ventricle	heart
47	chr2:191346600-191353800	Weak transcription	Fetal Heart	heart
48	chr2:191346800-191350800	Weak transcription	Right Ventricle	heart
49	chr2:191346800-191350800	Weak transcription	Small Intestine	intestine
50	chr2:191346800-191353400	Weak transcription	Fetal Thymus	thymus

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