Variant report

Variant	rs10183526
Chromosome Location	chr2:48704406-48704407
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	chr2:48698342..48700177-chr2:48704128..48705717,2	K562	blood:
2	chr2:48540572..48542662-chr2:48702493..48704566,2	K562	blood:

Variant related genes	Relation type
ENSG00000162869	Chromatin interaction
ENSG00000170802	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10165262	1.00[AMR][1000 genomes]
rs10167097	1.00[AMR][1000 genomes]
rs10177012	1.00[AMR][1000 genomes]
rs10178938	1.00[AMR][1000 genomes]
rs10180159	1.00[AMR][1000 genomes]
rs10184942	1.00[AMR][1000 genomes]
rs10187019	1.00[AMR][1000 genomes]
rs10197056	1.00[AMR][1000 genomes]
rs10198245	1.00[AMR][1000 genomes]
rs10199098	1.00[AMR][1000 genomes]
rs10199764	1.00[AMR][1000 genomes]
rs10200180	1.00[AMR][1000 genomes]
rs10204343	1.00[AMR][1000 genomes]
rs10206551	1.00[AMR][1000 genomes]
rs10208042	1.00[AMR][1000 genomes]
rs12328834	1.00[AMR][1000 genomes]
rs12329068	1.00[AMR][1000 genomes]
rs13396735	1.00[AMR][1000 genomes]
rs13399261	1.00[AMR][1000 genomes]
rs13402261	1.00[AMR][1000 genomes]
rs13408747	1.00[AMR][1000 genomes]
rs13410143	1.00[AMR][1000 genomes]
rs13418349	1.00[AMR][1000 genomes]
rs13424478	1.00[AMR][1000 genomes]
rs13432235	1.00[AMR][1000 genomes]
rs28623311	1.00[AMR][1000 genomes]
rs28775335	1.00[AMR][1000 genomes]
rs28784960	1.00[AMR][1000 genomes]
rs28893847	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48673200-48724000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:48680000-48706200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:48682600-48716200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:48687600-48707200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:48689200-48735600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:48690000-48735600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:48694000-48729400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:48694200-48753000	Weak transcription	Psoas Muscle	Psoas
9	chr2:48694400-48706600	Weak transcription	Fetal Brain Male	brain
10	chr2:48694800-48706000	Weak transcription	Small Intestine	intestine
11	chr2:48695000-48707600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:48695200-48706000	Weak transcription	Stomach Mucosa	stomach
13	chr2:48695200-48707200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:48695200-48707400	Weak transcription	Spleen	Spleen
15	chr2:48695200-48709800	Weak transcription	NHLF	lung
16	chr2:48695200-48723800	Weak transcription	Gastric	stomach
17	chr2:48695200-48725800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:48695200-48728000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:48695400-48706400	Weak transcription	HepG2	liver
20	chr2:48695400-48706800	Weak transcription	Brain Germinal Matrix	brain
21	chr2:48695400-48706800	Weak transcription	HMEC	breast
22	chr2:48695400-48707000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:48695400-48709200	Weak transcription	HUVEC	blood vessel
24	chr2:48695400-48728000	Weak transcription	Hela-S3	cervix
25	chr2:48695600-48713400	Weak transcription	Colonic Mucosa	Colon
26	chr2:48695600-48735200	Weak transcription	K562	blood
27	chr2:48696200-48704600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:48696200-48704600	Weak transcription	Adipose Nuclei	Adipose
29	chr2:48696200-48704600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:48696200-48705200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:48696200-48706800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr2:48696200-48707200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:48696200-48721000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:48696400-48704800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:48696400-48705000	Weak transcription	Esophagus	oesophagus
36	chr2:48696400-48705200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:48696400-48705200	Weak transcription	Fetal Brain Female	brain
38	chr2:48696400-48707000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:48696400-48708000	Weak transcription	Pancreas	Pancrea
40	chr2:48696400-48710000	Weak transcription	Lung	lung
41	chr2:48696400-48716400	Weak transcription	Right Ventricle	heart
42	chr2:48696400-48721600	Weak transcription	Left Ventricle	heart
43	chr2:48696400-48723800	Weak transcription	Aorta	Aorta
44	chr2:48697200-48707200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:48698200-48704600	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:48698600-48704600	Weak transcription	Primary B cells from cord blood	blood
47	chr2:48698600-48706200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:48698600-48723200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:48698800-48704600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:48698800-48704600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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