Variant report

Variant	rs2483149
Chromosome Location	chr1:160982296-160982297
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr1:160982267..160985787-chr1:161006429..161009245,3	MCF-7	breast:
4	chr1:160982248..160985015-chr1:161041891..161043731,2	K562	blood:
5	chr1:160970578..160972642-chr1:160981676..160983258,2	K562	blood:
6	chr1:160979139..160980938-chr1:160981553..160984466,3	MCF-7	breast:

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

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2483150	1.00[ASN][1000 genomes]
rs2774275	1.00[AMR][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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160963400-160983000	Weak transcription	HSMMtube	muscle
2	chr1:160970000-160982800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:160970600-160982400	Weak transcription	Dnd41	blood
4	chr1:160970600-160982600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:160970600-160983000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:160970600-160983000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:160970600-160983000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:160970800-160982600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:160970800-160983000	Weak transcription	HSMM	muscle
10	chr1:160971000-160982600	Weak transcription	Thymus	Thymus
11	chr1:160971000-160983200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:160971200-160982800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:160971200-160983000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:160971200-160983000	Weak transcription	Colonic Mucosa	Colon
15	chr1:160971400-160983000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:160971600-160982600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:160971600-160983000	Weak transcription	Left Ventricle	heart
18	chr1:160971800-160982800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:160971800-160982800	Weak transcription	HMEC	breast
20	chr1:160971800-160983000	Weak transcription	Fetal Stomach	stomach
21	chr1:160972600-160983000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:160972600-160983000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:160972600-160983000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:160976200-160983000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:160976200-160983000	Weak transcription	Right Ventricle	heart
26	chr1:160976600-160983000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:160976600-160983000	Weak transcription	Spleen	Spleen
28	chr1:160976800-160983000	Weak transcription	Gastric	stomach
29	chr1:160977800-160983400	Weak transcription	Fetal Kidney	kidney
30	chr1:160978000-160982800	Weak transcription	NHEK	skin
31	chr1:160979000-160983000	Weak transcription	Esophagus	oesophagus
32	chr1:160979200-160982800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:160979200-160983000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:160979200-160983000	Weak transcription	Fetal Lung	lung
35	chr1:160979200-160983200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:160979400-160982800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:160979400-160982800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:160979400-160982800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:160979400-160983400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:160979600-160983400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:160979800-160982800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:160979800-160982800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:160979800-160982800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:160979800-160982800	Weak transcription	Fetal Heart	heart
45	chr1:160980000-160982800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:160980000-160983000	Weak transcription	Hela-S3	cervix
47	chr1:160980200-160983000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:160981000-160982800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr1:160981000-160983000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:160981200-160982800	Enhancers	Primary B cells from cord blood	blood

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