Variant report

Variant	rs2481082
Chromosome Location	chr1:160983669-160983670
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:160976230..160985885-chr1:160986202..160992598,31	K562	blood:
2	chr1:160981897..160986145-chr1:160986279..160992389,24	K562	blood:
3	chr1:160983600..160986564-chr1:161134823..161137756,2	K562	blood:
4	chr1:160982267..160985787-chr1:161006429..161009245,3	MCF-7	breast:
5	chr1:160982248..160985015-chr1:161041891..161043731,2	K562	blood:
6	chr1:160979139..160980938-chr1:160981553..160984466,3	MCF-7	breast:
7	chr1:160633216..160634752-chr1:160983475..160985241,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215845	Chromatin interaction
ENSG00000158769	Chromatin interaction
ENSG00000270149	Chromatin interaction
ENSG00000143224	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2247799	0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs2247815	0.86[AFR][1000 genomes]
rs2247824	0.86[AFR][1000 genomes]
rs2252346	0.88[AFR][1000 genomes]
rs2481079	0.82[AFR][1000 genomes]
rs2483146	0.92[AFR][1000 genomes]
rs3007161	0.84[AFR][1000 genomes]
rs3007162	0.86[AFR][1000 genomes]
rs3124234	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv548058	chr1:160925455-160989614	Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160981800-160983800	Enhancers	Small Intestine	intestine
2	chr1:160981800-160984200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:160982400-160984000	Enhancers	Dnd41	blood
4	chr1:160982400-160984800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr1:160982800-160984000	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr1:160982800-160984000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr1:160982800-160984000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:160982800-160984000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr1:160982800-160984200	Genic enhancers	H1 Cell Line	embryonic stem cell
10	chr1:160982800-160984200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:160982800-160984200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr1:160982800-160984200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr1:160982800-160984200	Transcr. at gene 5' and 3'	K562	blood
14	chr1:160982800-160984400	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr1:160982800-160984400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr1:160982800-160984400	Enhancers	Fetal Heart	heart
17	chr1:160982800-160984400	Flanking Active TSS	A549	lung
18	chr1:160982800-160984400	Flanking Active TSS	GM12878-XiMat	blood
19	chr1:160982800-160984600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:160982800-160984600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:160982800-160984600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:160982800-160984600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr1:160982800-160984600	Flanking Active TSS	HepG2	liver
24	chr1:160982800-160984600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr1:160982800-160985000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr1:160983000-160983800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:160983000-160983800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:160983000-160984000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:160983000-160984000	Enhancers	Spleen	Spleen
30	chr1:160983000-160984000	Flanking Active TSS	HMEC	breast
31	chr1:160983000-160984000	Enhancers	NH-A	brain
32	chr1:160983000-160984200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:160983000-160984200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:160983000-160984200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:160983000-160984200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:160983000-160984200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr1:160983000-160984200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:160983000-160984200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr1:160983000-160984200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:160983000-160984200	Active TSS	Brain Hippocampus Middle	brain
41	chr1:160983000-160984200	Flanking Active TSS	Fetal Lung	lung
42	chr1:160983000-160984200	Enhancers	Psoas Muscle	Psoas
43	chr1:160983000-160984200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr1:160983000-160984200	Enhancers	Hela-S3	cervix
45	chr1:160983000-160984200	Flanking Active TSS	HSMM	muscle
46	chr1:160983000-160984400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
47	chr1:160983000-160984400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:160983000-160984400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr1:160983000-160984400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:160983000-160984400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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