Variant report

Variant	rs60931741
Chromosome Location	chr3:180341199-180341200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11914833	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs11923577	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13434282	0.88[EUR][1000 genomes]
rs2338436	0.88[EUR][1000 genomes]
rs60177071	0.97[EUR][1000 genomes]
rs60226914	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6807767	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73051767	0.97[EUR][1000 genomes]
rs9864971	0.89[EUR][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	nsv1007831	chr3:180162003-180348203	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536818	chr3:180162003-180348203	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3359190	chr3:180298396-180397223	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180320600-180343600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:180320600-180343800	Weak transcription	Spleen	Spleen
3	chr3:180320600-180344200	Weak transcription	Esophagus	oesophagus
4	chr3:180320600-180344200	Weak transcription	Gastric	stomach
5	chr3:180320800-180344000	Weak transcription	Pancreas	Pancrea
6	chr3:180320800-180344400	Weak transcription	Aorta	Aorta
7	chr3:180321600-180342400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:180321800-180342400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:180323400-180343600	Weak transcription	Fetal Intestine Small	intestine
10	chr3:180323400-180343600	Weak transcription	Fetal Stomach	stomach
11	chr3:180329400-180349400	Weak transcription	Brain Angular Gyrus	brain
12	chr3:180329600-180348600	Weak transcription	Psoas Muscle	Psoas
13	chr3:180330600-180343600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:180330600-180343800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:180330600-180344000	Weak transcription	Lung	lung
16	chr3:180330600-180345400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:180330600-180346000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:180330600-180346000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:180330600-180346000	Weak transcription	Ovary	ovary
20	chr3:180330600-180346200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:180330600-180347400	Weak transcription	Left Ventricle	heart
22	chr3:180330800-180344200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:180330800-180345600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:180330800-180346200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:180330800-180346400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:180331000-180343000	Weak transcription	Osteobl	bone
27	chr3:180331000-180343400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:180331200-180343400	Weak transcription	NHLF	lung
29	chr3:180331200-180344200	Weak transcription	Brain Germinal Matrix	brain
30	chr3:180331200-180346200	Weak transcription	Thymus	Thymus
31	chr3:180331200-180346200	Weak transcription	A549	lung
32	chr3:180331200-180346800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr3:180331200-180347800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:180331200-180348000	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:180331200-180348000	Weak transcription	NHEK	skin
36	chr3:180331400-180343600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:180331400-180343600	Weak transcription	Fetal Brain Female	brain
38	chr3:180331400-180343600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr3:180331400-180343600	Weak transcription	HSMMtube	muscle
40	chr3:180331400-180345000	Weak transcription	Adipose Nuclei	Adipose
41	chr3:180331400-180345800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr3:180331400-180346400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr3:180331400-180347000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:180331600-180342000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr3:180331600-180344200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr3:180331600-180345000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr3:180331600-180348000	Weak transcription	HUVEC	blood vessel
48	chr3:180331800-180343200	Weak transcription	Fetal Thymus	thymus
49	chr3:180331800-180343600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:180331800-180346000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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