Variant report

Variant	rs1168088
Chromosome Location	chr1:63113689-63113690
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:24)

rs_ID	r²[population]
rs10889341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1167995	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1167997	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168038	1.00[AMR][1000 genomes]
rs1168048	1.00[AMR][1000 genomes]
rs1168091	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168125	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1690760	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1690765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1748194	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[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[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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9436660	1.00[AFR][1000 genomes];1.00[AMR][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	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	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv870559	chr1:63057136-63113719	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63082200-63121000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr1:63082800-63132600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:63083400-63119000	Weak transcription	Fetal Thymus	thymus
4	chr1:63084800-63121000	Weak transcription	Small Intestine	intestine
5	chr1:63088000-63134600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:63096200-63121000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:63096400-63114000	Weak transcription	Spleen	Spleen
8	chr1:63096800-63129400	Weak transcription	Esophagus	oesophagus
9	chr1:63097000-63113800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:63097800-63115400	Weak transcription	Colonic Mucosa	Colon
11	chr1:63098000-63121400	Weak transcription	HUVEC	blood vessel
12	chr1:63099600-63122800	Weak transcription	Brain Angular Gyrus	brain
13	chr1:63099600-63137000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:63106200-63114000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:63106200-63115200	Strong transcription	HepG2	liver
16	chr1:63107200-63120400	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:63107200-63121000	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:63107200-63122600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:63107200-63122600	Weak transcription	Gastric	stomach
20	chr1:63107400-63113800	Weak transcription	Aorta	Aorta
21	chr1:63107400-63117600	Weak transcription	Brain Substantia Nigra	brain
22	chr1:63107400-63118600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:63107400-63119400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:63107400-63119800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:63107400-63120800	Weak transcription	Thymus	Thymus
26	chr1:63107400-63121400	Weak transcription	HSMMtube	muscle
27	chr1:63107400-63122400	Weak transcription	Left Ventricle	heart
28	chr1:63107400-63122800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:63107400-63122800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:63107400-63122800	Weak transcription	Lung	lung
31	chr1:63107400-63124800	Weak transcription	Right Ventricle	heart
32	chr1:63107400-63129600	Weak transcription	NHLF	lung
33	chr1:63107400-63132200	Weak transcription	Brain Germinal Matrix	brain
34	chr1:63107400-63151200	Weak transcription	Pancreas	Pancrea
35	chr1:63107600-63147800	Weak transcription	NHEK	skin
36	chr1:63108200-63120200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:63108400-63114000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:63108600-63113800	Strong transcription	HSMM	muscle
39	chr1:63108600-63114000	Strong transcription	NHDF-Ad	bronchial
40	chr1:63108800-63151200	Weak transcription	Fetal Stomach	stomach
41	chr1:63109000-63124200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:63109000-63130600	Weak transcription	Fetal Intestine Small	intestine
43	chr1:63109000-63147800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:63109200-63114000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:63109200-63117200	Weak transcription	Fetal Kidney	kidney
46	chr1:63109200-63143000	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:63109200-63150200	Weak transcription	Fetal Brain Male	brain
48	chr1:63109400-63113800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:63109400-63113800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:63109400-63118800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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