Variant report

Variant	rs17034615
Chromosome Location	chr1:10311877-10311878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1046277	1.00[JPT][hapmap]
rs10492970	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11121524	0.82[JPT][hapmap]
rs12074936	0.82[JPT][hapmap]
rs17034493	0.82[JPT][hapmap]
rs17034501	0.82[JPT][hapmap]
rs17034569	0.82[JPT][hapmap]
rs17034591	1.00[ASN][1000 genomes]
rs17034601	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17034616	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17034627	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17034655	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17034660	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17034716	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17034766	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17034775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17034849	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2229688	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs2297881	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3737154	0.88[AMR][1000 genomes]
rs3819096	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs41258245	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41274480	0.88[AMR][1000 genomes]
rs4329521	1.00[ASN][1000 genomes]
rs4846195	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs57661717	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57963032	0.88[AMR][1000 genomes]
rs61508659	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72864193	0.88[ASN][1000 genomes]
rs72864196	0.88[ASN][1000 genomes]
rs72865913	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865916	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72865925	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72865926	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865927	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72865941	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72865946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72865961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72865963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72865999	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72867438	0.88[AMR][1000 genomes]
rs72867441	0.88[AMR][1000 genomes]
rs72867455	0.88[AMR][1000 genomes]
rs72867467	0.88[AMR][1000 genomes]
rs72867469	0.88[AMR][1000 genomes]
rs9783053	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv999251	chr1:10276263-10318163	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv545382	chr1:10309026-10377221	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10277000-10322000	Weak transcription	Spleen	Spleen
3	chr1:10285200-10316000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:10285400-10312600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:10287400-10312400	Weak transcription	Pancreas	Pancrea
6	chr1:10289200-10317400	Weak transcription	Liver	Liver
7	chr1:10293000-10322000	Weak transcription	Primary T cells from cord blood	blood
8	chr1:10295600-10312000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:10295600-10316400	Weak transcription	Placenta	Placenta
10	chr1:10295600-10317600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:10295800-10322000	Weak transcription	Lung	lung
12	chr1:10296200-10312400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:10296200-10313600	Weak transcription	Fetal Brain Female	brain
14	chr1:10296400-10312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:10296400-10313200	Weak transcription	Fetal Stomach	stomach
16	chr1:10296400-10316800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:10297200-10316200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:10297200-10316200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:10297400-10312400	Weak transcription	NHLF	lung
20	chr1:10297400-10316200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:10297600-10312400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:10297800-10312400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:10298000-10312400	Weak transcription	HepG2	liver
24	chr1:10298400-10312400	Weak transcription	Right Atrium	heart
25	chr1:10302000-10313200	Weak transcription	Fetal Heart	heart
26	chr1:10302000-10321800	Weak transcription	Esophagus	oesophagus
27	chr1:10302200-10313800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:10302400-10312600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:10302400-10315600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:10302600-10313200	Weak transcription	Fetal Kidney	kidney
31	chr1:10303200-10313400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:10303200-10316000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr1:10305200-10313200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:10305200-10317200	Weak transcription	Brain Germinal Matrix	brain
35	chr1:10306200-10312600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:10306200-10313400	Weak transcription	Fetal Intestine Large	intestine
37	chr1:10306200-10313600	Weak transcription	Ovary	ovary
38	chr1:10306200-10316000	Weak transcription	Fetal Intestine Small	intestine
39	chr1:10307400-10313200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr1:10307600-10312400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:10307600-10340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:10307800-10316200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:10308400-10316200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:10308600-10314200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr1:10308800-10314400	Enhancers	Brain Substantia Nigra	brain
46	chr1:10309000-10312400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:10309200-10312000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr1:10309600-10315400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:10309800-10312400	Weak transcription	Adipose Nuclei	Adipose
50	chr1:10309800-10313800	Enhancers	Psoas Muscle	Psoas

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