Variant report

Variant	rs17129098
Chromosome Location	chr1:67029710-67029711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11208923	0.90[YRI][hapmap]
rs12032691	0.90[YRI][hapmap]
rs12116888	0.89[YRI][hapmap]
rs12129319	0.82[YRI][hapmap]
rs12131306	0.90[YRI][hapmap]
rs17129183	0.84[AFR][1000 genomes]
rs17129205	0.94[AFR][1000 genomes]
rs17129322	0.89[YRI][hapmap]
rs17129375	0.89[YRI][hapmap]
rs17129384	0.89[YRI][hapmap]
rs2066006	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4428858	0.90[YRI][hapmap]
rs4462119	0.90[YRI][hapmap]
rs4655501	0.90[YRI][hapmap]
rs4655503	0.90[YRI][hapmap]
rs4655641	0.90[YRI][hapmap]
rs4655644	0.88[YRI][hapmap]

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	nsv1210	chr1:67017295-67033203	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67000800-67029800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:67011800-67029800	Weak transcription	Fetal Brain Male	brain
3	chr1:67025000-67031600	Enhancers	Fetal Lung	lung
4	chr1:67027200-67030200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:67027200-67032000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:67027400-67031400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:67028000-67029800	Enhancers	Fetal Heart	heart
8	chr1:67028200-67030000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr1:67028200-67030000	Enhancers	Brain Angular Gyrus	brain
10	chr1:67028200-67030000	Enhancers	Placenta	Placenta
11	chr1:67028200-67030000	Flanking Active TSS	NHDF-Ad	bronchial
12	chr1:67028200-67030200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:67028200-67030200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:67028400-67029800	Enhancers	Fetal Stomach	stomach
15	chr1:67028400-67030000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:67028400-67030200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:67028600-67030000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:67028600-67030400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:67028600-67030600	Enhancers	Adipose Nuclei	Adipose
20	chr1:67028600-67030800	Weak transcription	Brain Germinal Matrix	brain
21	chr1:67028600-67031000	Enhancers	HMEC	breast
22	chr1:67028800-67029800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:67028800-67029800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:67028800-67029800	Enhancers	Brain Substantia Nigra	brain
25	chr1:67028800-67030000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:67028800-67030000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:67028800-67030000	Flanking Active TSS	HSMMtube	muscle
28	chr1:67028800-67030000	Flanking Active TSS	HUVEC	blood vessel
29	chr1:67028800-67030000	Flanking Active TSS	NH-A	brain
30	chr1:67028800-67030000	Flanking Active TSS	NHEK	skin
31	chr1:67028800-67030000	Flanking Active TSS	Osteobl	bone
32	chr1:67028800-67030400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:67028800-67030600	Enhancers	Colon Smooth Muscle	Colon
34	chr1:67028800-67030800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:67028800-67031400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:67029000-67029800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr1:67029000-67030200	Enhancers	Fetal Kidney	kidney
38	chr1:67029200-67029800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:67029200-67029800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:67029200-67030000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:67029200-67030200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:67029200-67030800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr1:67029200-67030800	Enhancers	HepG2	liver
44	chr1:67029200-67033600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:67029200-67042600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:67029400-67029800	Active TSS	A549	lung
47	chr1:67029400-67029800	Enhancers	Hela-S3	cervix
48	chr1:67029400-67030000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:67029400-67030800	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr1:67029400-67040800	Weak transcription	Brain Anterior Caudate	brain

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