Variant report

Variant	rs3820161
Chromosome Location	chr1:209835945-209835946
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209832927..209836405-chr1:209837172..209839938,4	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10082248	1.00[CEU][hapmap]
rs11119309	1.00[MKK][hapmap]
rs12097611	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12410975	1.00[MKK][hapmap]
rs12561766	1.00[CEU][hapmap]
rs17015078	1.00[CEU][hapmap]
rs2038053	1.00[CEU][hapmap]
rs2236902	1.00[CEU][hapmap]
rs2272866	1.00[CEU][hapmap]
rs2282740	1.00[CEU][hapmap]
rs2298930	1.00[CEU][hapmap]
rs4329516	1.00[CEU][hapmap]
rs4393158	1.00[AFR][1000 genomes]
rs4545339	1.00[CEU][hapmap]
rs4844893	1.00[CEU][hapmap]
rs4844894	1.00[CEU][hapmap]
rs6540547	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs6694238	1.00[CEU][hapmap]
rs7528642	1.00[CEU][hapmap]
rs846908	1.00[CEU][hapmap]

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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209823000-209836200	Weak transcription	Ovary	ovary
2	chr1:209828400-209844000	Weak transcription	Left Ventricle	heart
3	chr1:209829800-209842800	Weak transcription	Psoas Muscle	Psoas
4	chr1:209831200-209836000	Weak transcription	Pancreas	Pancrea
5	chr1:209831200-209836000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:209831200-209836200	Weak transcription	NH-A	brain
7	chr1:209831400-209846200	Weak transcription	Right Ventricle	heart
8	chr1:209832200-209836400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:209832400-209846600	Weak transcription	Right Atrium	heart
10	chr1:209833000-209836000	Enhancers	Liver	Liver
11	chr1:209833600-209836000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:209833600-209836000	Weak transcription	Osteobl	bone
13	chr1:209833600-209836200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:209833800-209839000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr1:209833800-209843600	Weak transcription	NHEK	skin
16	chr1:209834000-209836200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:209834000-209836200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:209834200-209836200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:209834400-209836200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:209834800-209836000	Weak transcription	HMEC	breast
21	chr1:209835000-209836000	Weak transcription	Adipose Nuclei	Adipose
22	chr1:209835600-209836600	Enhancers	Duodenum Mucosa	Duodenum
23	chr1:209835600-209836800	Enhancers	Stomach Mucosa	stomach
24	chr1:209835800-209836600	Enhancers	Fetal Intestine Large	intestine
25	chr1:209835800-209836600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr1:209835800-209836600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr1:209835800-209836600	Enhancers	Small Intestine	intestine
28	chr1:209835800-209836800	Enhancers	Fetal Intestine Small	intestine
29	chr1:209835800-209837000	Enhancers	HepG2	liver

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