Variant report

Variant	rs17023874
Chromosome Location	chr2:39734023-39734024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39723509..39726047-chr2:39733259..39735822,2	K562	blood:
2	chr2:39733398..39735108-chr2:39738598..39740561,2	K562	blood:
3	chr2:39730571..39735062-chr2:39737515..39740200,4	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10191970	1.00[JPT][hapmap]
rs11896239	0.83[ASN][1000 genomes]
rs13027520	0.80[ASN][1000 genomes]
rs13391377	0.80[ASN][1000 genomes]
rs17023837	1.00[AFR][1000 genomes]
rs17023923	0.90[ASN][1000 genomes]
rs2888602	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs35377016	0.80[ASN][1000 genomes]
rs4670282	0.87[ASN][1000 genomes]
rs4670285	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4670943	0.85[ASN][1000 genomes]
rs72803112	0.83[ASN][1000 genomes]
rs734663	0.88[JPT][hapmap]
rs7594624	0.97[ASN][1000 genomes]
rs7594967	0.88[CHB][hapmap];1.00[JPT][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	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39712400-39748600	Weak transcription	Aorta	Aorta
2	chr2:39723400-39738400	Weak transcription	Lung	lung
3	chr2:39724800-39750600	Weak transcription	Gastric	stomach
4	chr2:39728400-39736800	Weak transcription	K562	blood
5	chr2:39729600-39737000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:39729800-39735600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:39730000-39737800	Enhancers	NHDF-Ad	bronchial
8	chr2:39730400-39736400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:39731000-39741400	Enhancers	Fetal Stomach	stomach
10	chr2:39731200-39741400	Enhancers	Fetal Lung	lung
11	chr2:39731400-39734200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:39731600-39735400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:39731600-39738400	Weak transcription	Colonic Mucosa	Colon
14	chr2:39731800-39736600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:39731800-39738400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:39731800-39738400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:39732000-39736400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:39732000-39736400	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:39732000-39736600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:39732200-39736200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:39732200-39739600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:39732400-39734200	Enhancers	HepG2	liver
23	chr2:39732400-39736400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:39732400-39736400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:39732400-39736600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:39732400-39736800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:39732400-39736800	Weak transcription	HUVEC	blood vessel
28	chr2:39732400-39737000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:39732400-39738200	Weak transcription	Pancreas	Pancrea
30	chr2:39732400-39738200	Weak transcription	Spleen	Spleen
31	chr2:39732400-39740400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:39732400-39740600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:39732400-39740800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:39732800-39734200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:39732800-39734600	Weak transcription	Adipose Nuclei	Adipose
36	chr2:39732800-39734600	Weak transcription	Fetal Heart	heart
37	chr2:39732800-39736400	Weak transcription	Liver	Liver
38	chr2:39732800-39736400	Weak transcription	Fetal Intestine Large	intestine
39	chr2:39732800-39736400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:39732800-39736400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:39732800-39737200	Weak transcription	Right Ventricle	heart
42	chr2:39732800-39741400	Enhancers	NHLF	lung
43	chr2:39733000-39734200	Weak transcription	Ovary	ovary
44	chr2:39733000-39734600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:39733000-39736400	Weak transcription	Fetal Intestine Small	intestine
46	chr2:39733000-39738200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:39733000-39738400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:39733000-39739200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:39733000-39739200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:39733000-39743600	Weak transcription	Hela-S3	cervix

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