Variant report

Variant	rs1168008
Chromosome Location	chr1:62943264-62943265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10889341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1167995	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1167997	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168016	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168025	1.00[MKK][hapmap]
rs1168038	1.00[AMR][1000 genomes]
rs1168048	1.00[AMR][1000 genomes]
rs1168088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168091	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168125	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1690760	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1690765	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1748194	0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1781215	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2029764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2801387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2813926	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34186185	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs584387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs593519	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs612455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs657444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs660642	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9436660	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv1829390	chr1:62931632-62997573	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62909800-62977000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:62915400-62966600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr1:62916000-62977200	Weak transcription	Right Ventricle	heart
4	chr1:62916200-62960000	Weak transcription	Spleen	Spleen
5	chr1:62916200-62963200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:62916600-62976600	Weak transcription	Psoas Muscle	Psoas
7	chr1:62918800-62950000	Weak transcription	GM12878-XiMat	blood
8	chr1:62918800-62950800	Weak transcription	K562	blood
9	chr1:62919000-62959200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:62920000-62971000	Weak transcription	Thymus	Thymus
11	chr1:62920000-62980200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:62922600-62982000	Weak transcription	A549	lung
13	chr1:62923200-62979200	Weak transcription	Fetal Thymus	thymus
14	chr1:62927800-62943600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:62929200-62943400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:62930600-62943400	Strong transcription	Liver	Liver
17	chr1:62932200-62949200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:62934400-62981200	Weak transcription	Stomach Mucosa	stomach
19	chr1:62934600-62944000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:62935000-62943600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:62936000-62943600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:62936200-62943400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:62937400-62943400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:62937400-62943800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:62937400-62957200	Weak transcription	Colonic Mucosa	Colon
26	chr1:62937400-62960000	Weak transcription	Pancreas	Pancrea
27	chr1:62937600-62957000	Weak transcription	Lung	lung
28	chr1:62938000-62960000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:62938000-62966600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:62938800-62956600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:62938800-62973800	Weak transcription	Esophagus	oesophagus
32	chr1:62939000-62957000	Weak transcription	HSMMtube	muscle
33	chr1:62939200-62978200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:62939600-62946000	Weak transcription	Fetal Intestine Small	intestine
35	chr1:62939600-62954800	Weak transcription	Fetal Stomach	stomach
36	chr1:62939600-62956600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:62939600-62999800	Weak transcription	Gastric	stomach
38	chr1:62939600-63040600	Weak transcription	Aorta	Aorta
39	chr1:62939800-62956800	Weak transcription	Left Ventricle	heart
40	chr1:62939800-62961600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:62939800-63044400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:62939800-63060200	Weak transcription	Small Intestine	intestine
43	chr1:62940800-62943400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr1:62941000-62959200	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:62941000-63001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:62941200-62943400	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr1:62941200-62955800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:62941200-62955800	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:62941200-62956800	Weak transcription	Primary T cells from cord blood	blood
50	chr1:62941400-62943600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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