Variant report

Variant	rs1059313
Chromosome Location	chr2:39212160-39212161
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	chr2:39210484..39212587-chr2:39214026..39216644,2	K562	blood:
2	chr2:39193184..39195918-chr2:39211170..39213128,2	K562	blood:

Variant related genes	Relation type
ENSG00000115904	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10173563	0.80[ASN][1000 genomes]
rs10495882	1.00[ASN][1000 genomes]
rs1454224	0.87[EUR][1000 genomes]
rs17023212	0.87[EUR][1000 genomes]
rs17023214	1.00[ASN][1000 genomes]
rs6751306	0.80[ASN][1000 genomes]
rs6753426	0.80[ASN][1000 genomes]
rs72916897	0.87[EUR][1000 genomes]
rs7565814	0.80[AMR][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	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39188000-39212400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:39188000-39212600	Weak transcription	Gastric	stomach
3	chr2:39188000-39213000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:39188000-39222400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:39188400-39212400	Weak transcription	Fetal Brain Female	brain
6	chr2:39194000-39213000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:39194400-39218600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:39194600-39212800	Weak transcription	Spleen	Spleen
9	chr2:39195400-39212600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:39196600-39212600	Weak transcription	Aorta	Aorta
11	chr2:39197000-39225800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:39198600-39212600	Weak transcription	HSMMtube	muscle
13	chr2:39199600-39220000	Weak transcription	Brain Germinal Matrix	brain
14	chr2:39200000-39212200	Weak transcription	Pancreas	Pancrea
15	chr2:39200800-39227800	Weak transcription	Fetal Heart	heart
16	chr2:39201600-39212800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:39201800-39212800	Weak transcription	Brain Angular Gyrus	brain
18	chr2:39201800-39218600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:39202000-39212600	Weak transcription	Ovary	ovary
20	chr2:39202000-39218800	Weak transcription	Brain Substantia Nigra	brain
21	chr2:39202000-39221800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:39202200-39212600	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:39202400-39225600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:39202400-39228800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:39202800-39217000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:39205200-39212800	Weak transcription	Left Ventricle	heart
27	chr2:39205400-39212600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:39205800-39212600	Weak transcription	Brain Anterior Caudate	brain
29	chr2:39205800-39242600	Weak transcription	Psoas Muscle	Psoas
30	chr2:39206000-39212800	Weak transcription	Thymus	Thymus
31	chr2:39206000-39235800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:39206200-39212600	Weak transcription	HUVEC	blood vessel
33	chr2:39206400-39212600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:39206800-39212600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:39207000-39212400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:39207000-39212800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:39207000-39212800	Weak transcription	Fetal Brain Male	brain
38	chr2:39207600-39212800	Weak transcription	Esophagus	oesophagus
39	chr2:39207600-39224400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:39207800-39212800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:39208200-39212400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:39209200-39222400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:39209200-39224000	Strong transcription	Placenta	Placenta
44	chr2:39209400-39212400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:39209400-39212600	Weak transcription	NH-A	brain
46	chr2:39209400-39212800	Weak transcription	Fetal Intestine Small	intestine
47	chr2:39209600-39212800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:39209800-39212200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:39209800-39212200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:39209800-39224400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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