Variant report

Variant	rs1989181
Chromosome Location	chr6:142523865-142523866
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs225648	0.89[JPT][hapmap]
rs225691	0.83[ASN][1000 genomes]
rs225699	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs3811083	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896580	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs6570497	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6902780	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs6940882	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9373333	0.81[CHB][hapmap];0.84[JPT][hapmap];0.83[MKK][hapmap]
rs9385985	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs9399395	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9484600	1.00[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.88[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886732	chr6:142290338-142536049	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv886734	chr6:142347611-142523865	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised 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	19 gene(s)	inside rSNPs	diseases
3	nsv830824	chr6:142361107-142544929	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv886736	chr6:142365171-142523865	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr6:142484200-142533800	Weak transcription	Aorta	Aorta
2	chr6:142489000-142543200	Weak transcription	Small Intestine	intestine
3	chr6:142492200-142524800	Weak transcription	Brain Angular Gyrus	brain
4	chr6:142495600-142533600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:142496000-142525000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:142496000-142528600	Weak transcription	Lung	lung
7	chr6:142496200-142527600	Weak transcription	Thymus	Thymus
8	chr6:142496200-142528200	Weak transcription	Fetal Stomach	stomach
9	chr6:142496200-142528400	Weak transcription	Brain Germinal Matrix	brain
10	chr6:142496200-142533800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:142496200-142533800	Weak transcription	Gastric	stomach
12	chr6:142496200-142533800	Weak transcription	Pancreas	Pancrea
13	chr6:142496400-142528000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:142496400-142533600	Weak transcription	Colonic Mucosa	Colon
15	chr6:142496600-142525800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:142496600-142526200	Weak transcription	Esophagus	oesophagus
17	chr6:142496600-142533800	Weak transcription	Left Ventricle	heart
18	chr6:142496600-142546800	Weak transcription	NHLF	lung
19	chr6:142498200-142526000	Weak transcription	Fetal Intestine Small	intestine
20	chr6:142498600-142527800	Weak transcription	Ovary	ovary
21	chr6:142499200-142524800	Weak transcription	HSMMtube	muscle
22	chr6:142502000-142527800	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:142507800-142533800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:142508200-142525000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:142509200-142526000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:142510400-142534000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:142510400-142534200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:142510800-142534600	Weak transcription	Hela-S3	cervix
29	chr6:142513200-142528400	Weak transcription	Brain Substantia Nigra	brain
30	chr6:142513400-142533600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr6:142513600-142527400	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:142513600-142527800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr6:142515400-142541800	Weak transcription	Psoas Muscle	Psoas
34	chr6:142517200-142535400	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:142517400-142533400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:142517400-142533800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr6:142517600-142526200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:142517600-142527000	Weak transcription	A549	lung
39	chr6:142517600-142528200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr6:142517600-142533200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:142517800-142526000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:142517800-142527800	Weak transcription	NHEK	skin
43	chr6:142517800-142533000	Weak transcription	NH-A	brain
44	chr6:142517800-142533200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:142517800-142533600	Weak transcription	Right Ventricle	heart
46	chr6:142518000-142533800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr6:142518000-142534400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:142518000-142534400	Weak transcription	Spleen	Spleen
49	chr6:142518200-142527400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:142518200-142533000	Weak transcription	H1 Cell Line	embryonic stem cell

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