Variant report

Variant	rs2384914
Chromosome Location	chr8:126145367-126145368
allele	A/T
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]
rs10106942	0.88[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11995484	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12542820	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4300023	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4330708	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871572	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871574	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7017478	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7831515	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836506	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7836761	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297712	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1022954	chr8:126117811-126180331	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126105200-126156400	Weak transcription	Fetal Brain Male	brain
2	chr8:126117600-126157400	Weak transcription	Fetal Brain Female	brain
3	chr8:126117800-126160400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
5	chr8:126118400-126153600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:126120600-126156400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:126133800-126146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:126137600-126158400	Weak transcription	Placenta	Placenta
9	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
10	chr8:126137800-126146800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr8:126138000-126146600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr8:126138000-126163000	Weak transcription	Fetal Kidney	kidney
13	chr8:126138000-126163600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:126138000-126191000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:126138200-126146000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:126138200-126150600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:126138200-126156000	Weak transcription	Aorta	Aorta
19	chr8:126138200-126156400	Weak transcription	Esophagus	oesophagus
20	chr8:126138200-126158000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:126138200-126160200	Weak transcription	Spleen	Spleen
22	chr8:126138200-126170400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:126138400-126147400	Weak transcription	Fetal Intestine Large	intestine
25	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr8:126140400-126162200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:126141000-126151000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:126141000-126153600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:126141000-126155800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:126141000-126156200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:126141200-126151000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr8:126141200-126151200	Weak transcription	Brain Angular Gyrus	brain
33	chr8:126141200-126153600	Weak transcription	HMEC	breast
34	chr8:126141600-126156400	Weak transcription	Lung	lung
35	chr8:126141600-126156400	Weak transcription	Small Intestine	intestine
36	chr8:126141600-126159800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:126141800-126151000	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:126142000-126146200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:126142600-126153600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:126142600-126153600	Weak transcription	NHEK	skin
41	chr8:126142600-126153800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:126142600-126155200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:126142600-126163000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:126142800-126146600	Weak transcription	Right Ventricle	heart
46	chr8:126142800-126156600	Weak transcription	Liver	Liver
47	chr8:126142800-126162000	Weak transcription	HSMM	muscle
48	chr8:126143000-126153600	Weak transcription	NHLF	lung
49	chr8:126143000-126155800	Weak transcription	NH-A	brain
50	chr8:126143000-126193200	Weak transcription	Left Ventricle	heart

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