Variant report

Variant	rs74130932
Chromosome Location	chr1:193167614-193167615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1536100	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16835204	0.87[AFR][1000 genomes]
rs4657746	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551862	0.83[AFR][1000 genomes]
rs56986460	0.86[AFR][1000 genomes]
rs60186515	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130929	0.83[AFR][1000 genomes]
rs74130930	0.83[AFR][1000 genomes]
rs74130933	0.83[AMR][1000 genomes]
rs74130934	0.83[AMR][1000 genomes]
rs74130935	0.87[AFR][1000 genomes]
rs74130936	0.91[AFR][1000 genomes]
rs74130937	0.93[AFR][1000 genomes]
rs74130938	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74130939	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74130940	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7518409	0.87[AFR][1000 genomes]
rs7531808	0.83[AMR][1000 genomes]
rs7551600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7556154	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7556241	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs817134	0.86[AFR][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	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155600-193178400	Weak transcription	HUVEC	blood vessel
2	chr1:193155800-193175000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:193155800-193183000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
5	chr1:193156000-193175400	Weak transcription	HMEC	breast
6	chr1:193156200-193174600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:193156200-193175400	Weak transcription	NHEK	skin
8	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
9	chr1:193156600-193173000	Weak transcription	Osteobl	bone
10	chr1:193156600-193180200	Weak transcription	NH-A	brain
11	chr1:193157600-193168400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:193159000-193168400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:193159000-193210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:193159200-193170000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:193159400-193175400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:193159600-193178000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:193159800-193174400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:193159800-193185000	Weak transcription	Fetal Brain Male	brain
19	chr1:193160000-193174000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:193160000-193175200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:193160000-193175200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:193160200-193175400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:193160200-193180200	Weak transcription	HSMMtube	muscle
24	chr1:193160400-193169600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:193162000-193172800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr1:193162000-193173400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:193162000-193174400	Weak transcription	Fetal Kidney	kidney
28	chr1:193162000-193176200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:193162000-193176400	Weak transcription	Thymus	Thymus
30	chr1:193162000-193186200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:193162000-193186200	Weak transcription	Placenta	Placenta
32	chr1:193162200-193168400	Weak transcription	Fetal Stomach	stomach
33	chr1:193162200-193168400	Weak transcription	Left Ventricle	heart
34	chr1:193162200-193172800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:193162200-193173000	Weak transcription	Dnd41	blood
36	chr1:193162200-193173800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:193162200-193174000	Weak transcription	Primary T cells from cord blood	blood
38	chr1:193162200-193174000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:193162200-193174000	Weak transcription	K562	blood
40	chr1:193162200-193174400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:193162200-193174400	Weak transcription	Fetal Thymus	thymus
42	chr1:193162200-193174800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:193162200-193174800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:193162200-193175200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:193162200-193176200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:193162200-193176400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:193162200-193176400	Weak transcription	Liver	Liver
48	chr1:193162200-193180400	Weak transcription	NHLF	lung
49	chr1:193162200-193183000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr1:193162200-193186200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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