Variant report

Variant	rs58160049
Chromosome Location	chr12:11861046-11861047
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	chr12:11800508..11802179-chr12:11860722..11862273,2	MCF-7	breast:
2	chr12:11854972..11857020-chr12:11859743..11861863,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11054420	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296206	1.00[EUR][1000 genomes]
rs1641623	1.00[EUR][1000 genomes]
rs55959071	1.00[EUR][1000 genomes]
rs59624591	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59692713	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60499077	1.00[EUR][1000 genomes]
rs61366849	1.00[EUR][1000 genomes]
rs7294334	1.00[EUR][1000 genomes]
rs7305726	1.00[EUR][1000 genomes]
rs7306490	1.00[EUR][1000 genomes]
rs7308344	1.00[EUR][1000 genomes]
rs73288732	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288733	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288736	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288738	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288740	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288746	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288748	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288753	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288756	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288757	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288759	1.00[ASN][1000 genomes]
rs73288764	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74060969	1.00[EUR][1000 genomes]
rs74061000	1.00[EUR][1000 genomes]
rs74062355	1.00[EUR][1000 genomes]
rs74062357	1.00[EUR][1000 genomes]
rs74062364	1.00[EUR][1000 genomes]
rs7975230	1.00[EUR][1000 genomes]
rs7975331	1.00[EUR][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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:11838800-11872200	Weak transcription	Primary T cells from cord blood	blood
3	chr12:11841800-11867400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:11844200-11864600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:11848000-11872200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:11848400-11861200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr12:11848800-11861400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:11848800-11879600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:11849400-11865000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:11853000-11872000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:11853200-11870400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:11854800-11872600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:11855200-11861200	Weak transcription	Dnd41	blood
14	chr12:11855200-11862600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:11855200-11864000	Weak transcription	Adipose Nuclei	Adipose
16	chr12:11855200-11871800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:11855400-11868200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr12:11857000-11861200	Enhancers	Small Intestine	intestine
19	chr12:11857000-11861600	Enhancers	Stomach Mucosa	stomach
20	chr12:11857000-11861800	Strong transcription	Primary hematopoietic stem cells	blood
21	chr12:11857000-11876800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:11857600-11864200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr12:11857800-11865200	Enhancers	Colon Smooth Muscle	Colon
24	chr12:11858000-11861400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:11858000-11861400	Enhancers	Brain Hippocampus Middle	brain
26	chr12:11858000-11861600	Enhancers	Fetal Stomach	stomach
27	chr12:11858000-11862000	Enhancers	Fetal Heart	heart
28	chr12:11858000-11862800	Enhancers	Pancreas	Pancrea
29	chr12:11858000-11863400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr12:11858000-11864000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:11858000-11864000	Genic enhancers	Fetal Thymus	thymus
32	chr12:11858400-11861600	Enhancers	Liver	Liver
33	chr12:11858400-11861600	Enhancers	Duodenum Mucosa	Duodenum
34	chr12:11858600-11861400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr12:11858600-11861800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:11858600-11862000	Enhancers	Aorta	Aorta
37	chr12:11858600-11863000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:11858600-11870400	Weak transcription	NHLF	lung
39	chr12:11858800-11862800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:11858800-11864600	Weak transcription	HUVEC	blood vessel
41	chr12:11859000-11861200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:11859000-11861400	Weak transcription	HSMM	muscle
43	chr12:11859000-11861400	Weak transcription	Osteobl	bone
44	chr12:11859000-11861600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr12:11859200-11861400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:11859200-11861600	Enhancers	Ovary	ovary
47	chr12:11859200-11864000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:11859200-11872000	Weak transcription	HSMMtube	muscle
49	chr12:11859400-11861400	Enhancers	Right Atrium	heart
50	chr12:11859400-11861600	Enhancers	Fetal Lung	lung

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