Variant report

Variant	rs849268
Chromosome Location	chr2:206273704-206273705
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	chr2:206270948..206273715-chr2:206278631..206280999,2	K562	blood:

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

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

rs_ID	r²[population]
rs11897011	1.00[ASN][1000 genomes]
rs1207413	1.00[ASN][1000 genomes]
rs13389747	1.00[ASN][1000 genomes]
rs13409214	1.00[ASN][1000 genomes]
rs13409417	1.00[ASN][1000 genomes]
rs16837235	1.00[ASN][1000 genomes]
rs2001527	1.00[ASN][1000 genomes]
rs2137177	1.00[ASN][1000 genomes]
rs28582277	1.00[ASN][1000 genomes]
rs56063014	0.89[AMR][1000 genomes]
rs59617257	1.00[ASN][1000 genomes]
rs59629925	1.00[ASN][1000 genomes]
rs6745571	1.00[ASN][1000 genomes]
rs6760161	1.00[ASN][1000 genomes]
rs73055947	1.00[ASN][1000 genomes]
rs73055953	1.00[ASN][1000 genomes]
rs73058323	1.00[ASN][1000 genomes]
rs7591617	1.00[ASN][1000 genomes]
rs849192	1.00[ASN][1000 genomes]
rs849196	1.00[ASN][1000 genomes]
rs849204	1.00[ASN][1000 genomes]
rs849205	1.00[ASN][1000 genomes]
rs849212	1.00[ASN][1000 genomes]
rs849213	1.00[ASN][1000 genomes]
rs861066	1.00[ASN][1000 genomes]

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	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv584244	chr2:206247450-206378392	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv10162	chr2:206272092-206525287	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206265600-206276400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:206268600-206286600	Weak transcription	Fetal Intestine Small	intestine
3	chr2:206269800-206274600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:206270600-206274400	Enhancers	NHLF	lung
5	chr2:206270600-206276000	Weak transcription	Small Intestine	intestine
6	chr2:206270600-206308000	Weak transcription	HSMMtube	muscle
7	chr2:206270800-206273800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:206270800-206276000	Weak transcription	Ovary	ovary
9	chr2:206271200-206274000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:206272200-206274400	Enhancers	Fetal Brain Male	brain
11	chr2:206272400-206274200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:206272400-206274400	Enhancers	Osteobl	bone
13	chr2:206272600-206275200	Bivalent Enhancer	Fetal Lung	lung
14	chr2:206272600-206277200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:206272800-206274200	Enhancers	Colon Smooth Muscle	Colon
16	chr2:206272800-206274800	Enhancers	HSMM	muscle
17	chr2:206273000-206274400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:206273000-206274600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:206273000-206274800	Enhancers	NHDF-Ad	bronchial
20	chr2:206273000-206276000	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:206273000-206276200	Weak transcription	Adipose Nuclei	Adipose
22	chr2:206273000-206276200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:206273200-206274000	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr2:206273200-206274400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:206273600-206274400	Enhancers	NHEK	skin
26	chr2:206273600-206274800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:206273600-206276200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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