Variant report

Variant	rs4242317
Chromosome Location	chr8:121701132-121701133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11990894	1.00[YRI][hapmap]
rs11995748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4503138	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870747	0.82[CEU][hapmap]
rs4871102	0.82[CEU][hapmap]
rs6984374	0.83[TSI][hapmap]
rs6990640	0.87[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995596	0.83[TSI][hapmap]
rs7836660	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9642852	0.85[YRI][hapmap]
rs9643147	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643148	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][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	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121679800-121714600	Weak transcription	Spleen	Spleen
2	chr8:121680600-121704600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:121681400-121704200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:121685400-121714400	Weak transcription	Pancreas	Pancrea
5	chr8:121685600-121714200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:121686600-121704400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr8:121686800-121709000	Weak transcription	Small Intestine	intestine
8	chr8:121687000-121704200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:121690200-121706600	Strong transcription	HepG2	liver
10	chr8:121691200-121703600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:121691400-121705200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:121695000-121704000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:121696800-121703200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:121697400-121705800	Weak transcription	Aorta	Aorta
15	chr8:121697600-121706200	Weak transcription	Esophagus	oesophagus
16	chr8:121697800-121704000	Weak transcription	Fetal Stomach	stomach
17	chr8:121697800-121704200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:121697800-121704200	Weak transcription	Fetal Intestine Small	intestine
19	chr8:121697800-121704200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:121697800-121704200	Weak transcription	Gastric	stomach
21	chr8:121697800-121704200	Weak transcription	Lung	lung
22	chr8:121697800-121705200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:121697800-121706200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr8:121697800-121706200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr8:121697800-121713600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:121697800-121714400	Weak transcription	Placenta	Placenta
27	chr8:121698000-121703000	Strong transcription	Primary B cells from cord blood	blood
28	chr8:121698200-121704200	Weak transcription	Ovary	ovary
29	chr8:121698400-121704600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:121698400-121709000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:121698600-121702400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr8:121698800-121702800	Strong transcription	Primary hematopoietic stem cells	blood
33	chr8:121698800-121706200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:121698800-121706200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:121699400-121701200	Enhancers	Fetal Kidney	kidney
36	chr8:121699400-121701600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr8:121699400-121704200	Strong transcription	Liver	Liver
38	chr8:121699600-121701200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:121699600-121701200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:121699600-121701200	Enhancers	NHDF-Ad	bronchial
41	chr8:121699600-121701600	Enhancers	NHLF	lung
42	chr8:121699600-121701800	Enhancers	Fetal Muscle Leg	muscle
43	chr8:121699600-121703800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr8:121699600-121706200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:121699800-121701800	Strong transcription	Primary T cells from cord blood	blood
46	chr8:121699800-121702600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:121699800-121714200	Weak transcription	Fetal Thymus	thymus
48	chr8:121700200-121701200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:121700200-121703000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr8:121700400-121704800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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