Variant report

Variant	rs12034497
Chromosome Location	chr1:173092191-173092192
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	chr1:173087455..173089707-chr1:173091714..173094259,2	K562	blood:

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

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

rs_ID	r²[population]
rs10753070	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912533	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11799493	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12743990	0.99[EUR][1000 genomes]
rs2422272	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901697	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916297	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4916304	0.99[EUR][1000 genomes]
rs4916306	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6413826	0.93[EUR][1000 genomes]
rs6425203	0.84[EUR][1000 genomes]
rs6425205	0.92[EUR][1000 genomes]
rs6674831	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9286880	0.81[CEU][hapmap];0.85[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.94[ASN][1000 genomes]
rs974363	0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533953	chr1:172939335-173133255	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173087600-173092600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:173091000-173092400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:173091000-173093000	Enhancers	Fetal Stomach	stomach
4	chr1:173091200-173092200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:173091200-173092200	Enhancers	Liver	Liver
6	chr1:173091200-173092200	Enhancers	Fetal Intestine Small	intestine
7	chr1:173091200-173092200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:173091400-173092200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:173091400-173092200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:173091400-173092200	Enhancers	A549	lung
11	chr1:173091400-173092600	Enhancers	Fetal Heart	heart
12	chr1:173091400-173096400	Weak transcription	Small Intestine	intestine
13	chr1:173091600-173092200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:173091600-173092200	Flanking Active TSS	Fetal Lung	lung
15	chr1:173091600-173092400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:173091600-173092800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:173091600-173092800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:173091600-173092800	Enhancers	Primary B cells from cord blood	blood
19	chr1:173091600-173092800	Enhancers	Dnd41	blood
20	chr1:173091600-173092800	Flanking Active TSS	NHDF-Ad	bronchial
21	chr1:173091600-173092800	Flanking Active TSS	NHLF	lung
22	chr1:173091600-173093000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:173091600-173093000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:173091600-173093000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:173091600-173093200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:173091800-173092200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:173091800-173092200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:173091800-173092200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr1:173091800-173092200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:173091800-173092200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:173091800-173092200	Enhancers	Brain Hippocampus Middle	brain
32	chr1:173091800-173092200	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr1:173091800-173092200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr1:173091800-173092200	Enhancers	Spleen	Spleen
35	chr1:173091800-173092400	Enhancers	Colonic Mucosa	Colon
36	chr1:173091800-173092400	Enhancers	Placenta	Placenta
37	chr1:173091800-173092400	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr1:173091800-173092600	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr1:173091800-173092600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:173091800-173092600	Active TSS	Right Atrium	heart
41	chr1:173091800-173092800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr1:173091800-173092800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:173091800-173092800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:173091800-173092800	Enhancers	Primary B cells from peripheral blood	blood
45	chr1:173091800-173092800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr1:173091800-173092800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:173091800-173092800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:173091800-173092800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:173091800-173092800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:173091800-173092800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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