Variant report

Variant	rs17019010
Chromosome Location	chr2:36759591-36759592
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36758337..36760370-chr2:36762018..36763607,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17018672	1.00[CEU][hapmap]
rs17018786	1.00[CEU][hapmap]
rs17018960	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019092	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17019167	1.00[EUR][1000 genomes]
rs17038833	1.00[CEU][hapmap]
rs1861390	1.00[CEU][hapmap]
rs3755206	1.00[CEU][hapmap]
rs3755212	1.00[CEU][hapmap]
rs3770916	1.00[CEU][hapmap]
rs3770923	1.00[CEU][hapmap]

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:106 , 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	chr2:36729600-36790200	Weak transcription	Small Intestine	intestine
4	chr2:36733200-36774200	Weak transcription	Fetal Thymus	thymus
5	chr2:36733400-36764400	Weak transcription	Pancreas	Pancrea
6	chr2:36739000-36778200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:36744800-36764200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:36747800-36766200	Weak transcription	Thymus	Thymus
9	chr2:36747800-36768800	Weak transcription	Colonic Mucosa	Colon
10	chr2:36747800-36774200	Weak transcription	Liver	Liver
11	chr2:36748000-36764400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:36748000-36764400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:36749600-36764200	Weak transcription	Brain Germinal Matrix	brain
14	chr2:36749600-36765000	Weak transcription	Fetal Brain Male	brain
15	chr2:36749600-36765200	Weak transcription	Right Ventricle	heart
16	chr2:36749800-36764200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:36749800-36764200	Weak transcription	Spleen	Spleen
18	chr2:36750000-36765200	Weak transcription	Gastric	stomach
19	chr2:36750800-36763200	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:36750800-36764400	Weak transcription	Esophagus	oesophagus
21	chr2:36750800-36783200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:36751000-36761000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:36751000-36764200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:36751200-36774200	Weak transcription	Psoas Muscle	Psoas
26	chr2:36751400-36763600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:36751400-36764200	Weak transcription	Fetal Brain Female	brain
28	chr2:36751400-36764200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:36751600-36759600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:36751600-36764400	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:36751600-36764400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:36752000-36776000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:36752600-36760600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:36752800-36760600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:36752800-36766400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:36753000-36760600	Strong transcription	NHEK	skin
37	chr2:36753000-36764200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:36753800-36782600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:36754000-36761400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:36754000-36764400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:36754200-36764200	Weak transcription	Left Ventricle	heart
42	chr2:36755000-36760200	Strong transcription	Hela-S3	cervix
43	chr2:36755200-36760200	Strong transcription	HMEC	breast
44	chr2:36755600-36759600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:36756200-36763200	Weak transcription	Fetal Stomach	stomach
46	chr2:36756400-36767400	Weak transcription	Primary T cells from cord blood	blood
47	chr2:36756400-36769600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:36756800-36761000	Strong transcription	HUVEC	blood vessel
49	chr2:36757600-36769200	Strong transcription	Placenta	Placenta
50	chr2:36757800-36764400	Strong transcription	A549	lung

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