Variant report

Variant	rs17023823
Chromosome Location	chr2:39626547-39626548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39625232..39628414-chr2:39637317..39639794,4	K562	blood:
2	chr2:39624807..39627071-chr2:39638065..39639781,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10490304	1.00[AMR][1000 genomes]
rs17023556	0.82[MKK][hapmap]
rs17023819	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929194	1.00[AMR][1000 genomes]
rs72929198	1.00[AMR][1000 genomes]
rs72929202	1.00[AMR][1000 genomes]
rs72931106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931107	1.00[AMR][1000 genomes]
rs72931112	1.00[AMR][1000 genomes]
rs72931114	1.00[AMR][1000 genomes]
rs72931142	0.81[AFR][1000 genomes]
rs72931146	0.81[AFR][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	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39588000-39630400	Weak transcription	Placenta	Placenta
2	chr2:39603200-39638400	Weak transcription	Hela-S3	cervix
3	chr2:39603400-39626800	Weak transcription	Primary T cells from cord blood	blood
4	chr2:39607000-39626800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:39613800-39630600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:39614000-39628000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:39615800-39626800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:39617800-39628200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:39617800-39628400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:39617800-39630600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:39618000-39633400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:39619200-39629600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:39620000-39629400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:39620200-39635600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:39621800-39628600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:39622000-39626600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:39622000-39626600	Weak transcription	Pancreas	Pancrea
19	chr2:39622000-39628200	Weak transcription	Right Ventricle	heart
20	chr2:39622000-39628600	Weak transcription	Lung	lung
21	chr2:39622000-39635400	Weak transcription	HSMM	muscle
22	chr2:39622400-39626600	Weak transcription	NHLF	lung
23	chr2:39622600-39626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:39622600-39643600	Weak transcription	Brain Germinal Matrix	brain
25	chr2:39622800-39626600	Weak transcription	Brain Angular Gyrus	brain
26	chr2:39622800-39626800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:39622800-39626800	Weak transcription	HMEC	breast
28	chr2:39622800-39630400	Weak transcription	Liver	Liver
29	chr2:39622800-39630400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:39622800-39630600	Weak transcription	Fetal Stomach	stomach
31	chr2:39622800-39643200	Weak transcription	Fetal Brain Male	brain
32	chr2:39622800-39643400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:39623600-39628200	Weak transcription	Ovary	ovary
34	chr2:39625200-39626600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:39625200-39626800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:39625200-39630600	Weak transcription	Fetal Intestine Small	intestine
37	chr2:39625400-39626600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr2:39625400-39630600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:39625400-39634400	Weak transcription	Fetal Intestine Large	intestine
40	chr2:39625800-39627600	Enhancers	Colon Smooth Muscle	Colon
41	chr2:39626000-39626800	Enhancers	Left Ventricle	heart
42	chr2:39626000-39627000	Enhancers	Stomach Smooth Muscle	stomach
43	chr2:39626000-39627400	Enhancers	Right Atrium	heart
44	chr2:39626000-39629600	Enhancers	HepG2	liver
45	chr2:39626200-39626600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:39626200-39626800	Enhancers	Fetal Kidney	kidney
47	chr2:39626200-39627000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:39626200-39627000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:39626200-39627000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr2:39626200-39627400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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