Variant report

Variant	rs17036630
Chromosome Location	chr2:47715339-47715340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17218160	1.00[EUR][1000 genomes]
rs17218452	1.00[EUR][1000 genomes]
rs17225088	1.00[EUR][1000 genomes]
rs72872831	1.00[EUR][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	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47658200-47724800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:47658400-47716000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:47691600-47715400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:47691600-47715600	Weak transcription	NHEK	skin
5	chr2:47691600-47716000	Weak transcription	Gastric	stomach
6	chr2:47691600-47716000	Weak transcription	Pancreas	Pancrea
7	chr2:47693600-47715400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:47693600-47716800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:47694200-47715600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:47696000-47716000	Weak transcription	NHLF	lung
11	chr2:47696800-47716000	Weak transcription	Lung	lung
12	chr2:47697000-47716200	Weak transcription	Fetal Brain Female	brain
13	chr2:47697200-47715400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:47697600-47715600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:47702800-47727000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:47703800-47716000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:47703800-47722000	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:47704200-47716200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:47705800-47717000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:47706000-47715800	Weak transcription	HUVEC	blood vessel
21	chr2:47706000-47715800	Weak transcription	NH-A	brain
22	chr2:47706200-47716200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:47706600-47716200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:47708400-47716000	Weak transcription	HSMM	muscle
25	chr2:47710000-47716200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:47712000-47715400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:47712000-47716000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:47712000-47716000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:47712000-47716200	Weak transcription	Fetal Stomach	stomach
30	chr2:47712200-47715600	Weak transcription	HMEC	breast
31	chr2:47712200-47716400	Weak transcription	Fetal Intestine Large	intestine
32	chr2:47712200-47716400	Weak transcription	Left Ventricle	heart
33	chr2:47712600-47715600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:47712600-47716000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:47712600-47716000	Weak transcription	Fetal Thymus	thymus
36	chr2:47712600-47716000	Weak transcription	Thymus	Thymus
37	chr2:47712600-47716400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:47712600-47716400	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:47712600-47716600	Weak transcription	HepG2	liver
40	chr2:47712800-47715600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:47712800-47716200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:47712800-47716400	Weak transcription	Hela-S3	cervix
43	chr2:47712800-47721800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:47713000-47716200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:47713000-47716200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:47713000-47716400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:47713000-47717400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:47713000-47717600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:47713200-47715800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:47713200-47716400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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