Variant report

Variant	rs74130938
Chromosome Location	chr1:193205051-193205052
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1221501	0.93[AFR][1000 genomes]
rs1536100	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16835204	0.87[AFR][1000 genomes]
rs2265555	0.93[AFR][1000 genomes]
rs41305084	0.93[AFR][1000 genomes]
rs4657746	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs506721	0.93[AFR][1000 genomes]
rs551862	0.96[AFR][1000 genomes]
rs56986460	1.00[AFR][1000 genomes]
rs60186515	0.83[AMR][1000 genomes]
rs74130932	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74130935	0.87[AFR][1000 genomes]
rs74130936	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74130937	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74130939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130940	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130941	0.93[AFR][1000 genomes]
rs74130942	0.93[AFR][1000 genomes]
rs7518409	0.87[AFR][1000 genomes]
rs7538408	0.80[AFR][1000 genomes]
rs7551600	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7556154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7556241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs817134	1.00[AFR][1000 genomes]
rs817135	0.93[AFR][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	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
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
3	chr1:193159000-193210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:193167800-193210400	Weak transcription	Ovary	ovary
5	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
6	chr1:193170400-193216000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:193176800-193209200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:193177000-193206600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:193180800-193228200	Weak transcription	Small Intestine	intestine
11	chr1:193181000-193207400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:193181800-193210400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
14	chr1:193183400-193211000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:193183400-193216000	Weak transcription	NHEK	skin
16	chr1:193184200-193209000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:193184400-193227600	Weak transcription	HMEC	breast
18	chr1:193185400-193211000	Weak transcription	Fetal Brain Female	brain
19	chr1:193185400-193218200	Weak transcription	HepG2	liver
20	chr1:193186200-193216600	Weak transcription	HUVEC	blood vessel
21	chr1:193186600-193210600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:193186600-193216200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:193186800-193210400	Weak transcription	Lung	lung
24	chr1:193187000-193205200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:193187000-193205200	Weak transcription	Fetal Intestine Small	intestine
26	chr1:193187000-193205200	Weak transcription	Left Ventricle	heart
27	chr1:193187000-193205400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:193187000-193205400	Weak transcription	Fetal Stomach	stomach
29	chr1:193187000-193206600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:193187000-193207200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:193187000-193210400	Weak transcription	Gastric	stomach
32	chr1:193187000-193210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:193187000-193212200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:193187000-193213000	Weak transcription	Spleen	Spleen
35	chr1:193187000-193216400	Weak transcription	Esophagus	oesophagus
36	chr1:193187000-193216800	Weak transcription	Right Ventricle	heart
37	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:193187800-193205200	Weak transcription	Thymus	Thymus
39	chr1:193187800-193205200	Weak transcription	HSMMtube	muscle
40	chr1:193189000-193205200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:193189000-193205200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:193189000-193205200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:193191400-193217000	Weak transcription	Brain Anterior Caudate	brain
44	chr1:193191400-193221000	Weak transcription	Brain Substantia Nigra	brain
45	chr1:193191600-193205200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:193191600-193216200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:193191600-193216600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:193191600-193216800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:193191800-193205400	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:193192200-193216000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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