Variant report

Variant	rs17480811
Chromosome Location	chr2:36745949-36745950
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs17018986	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019000	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17019002	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs72866891	1.00[EUR][1000 genomes]
rs848516	1.00[CEU][hapmap]
rs848529	1.00[CEU][hapmap]
rs848543	1.00[CEU][hapmap]
rs882842	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs940293	1.00[EUR][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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36720000-36760600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:36721800-36746000	Strong transcription	HUVEC	blood vessel
4	chr2:36722600-36752400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:36725200-36756800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:36726800-36751800	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:36727400-36757200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:36728400-36749200	Weak transcription	Fetal Brain Male	brain
9	chr2:36729600-36790200	Weak transcription	Small Intestine	intestine
10	chr2:36733000-36752000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:36733200-36774200	Weak transcription	Fetal Thymus	thymus
12	chr2:36733400-36764400	Weak transcription	Pancreas	Pancrea
13	chr2:36733600-36748800	Weak transcription	Stomach Mucosa	stomach
14	chr2:36733600-36750200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:36734600-36756800	Strong transcription	HepG2	liver
16	chr2:36735600-36754200	Strong transcription	Hela-S3	cervix
17	chr2:36735800-36751000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:36735800-36752600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:36736000-36755800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:36736400-36751400	Strong transcription	Left Ventricle	heart
21	chr2:36736800-36751400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:36737800-36748600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:36737800-36750600	Strong transcription	A549	lung
24	chr2:36738000-36747200	Weak transcription	Thymus	Thymus
25	chr2:36738200-36754000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr2:36738400-36751600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:36738400-36751600	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:36738600-36754200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:36738800-36748200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:36738800-36754000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr2:36739000-36751200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:36739000-36778200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:36739200-36748000	Strong transcription	Colon Smooth Muscle	Colon
34	chr2:36739200-36749200	Strong transcription	Primary B cells from cord blood	blood
35	chr2:36739200-36751200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:36739200-36751400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr2:36739200-36751600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:36739200-36751800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr2:36739400-36747800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:36739400-36751000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:36739400-36757400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:36739600-36746400	Weak transcription	Right Atrium	heart
43	chr2:36739600-36750800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:36739600-36751000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:36739600-36751800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:36739800-36746800	Weak transcription	Colonic Mucosa	Colon
47	chr2:36740200-36747600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:36740200-36747600	Weak transcription	Brain Substantia Nigra	brain
49	chr2:36740200-36754000	Strong transcription	Adipose Nuclei	Adipose
50	chr2:36740200-36754800	Weak transcription	Primary T cells fromperipheralblood	blood

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