Variant report

Variant	rs2385166
Chromosome Location	chr8:124140198-124140199
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124132830..124135364-chr8:124139442..124142284,2	K562	blood:
2	chr8:124133634..124135408-chr8:124138761..124140483,2	K562	blood:

Variant related genes	Relation type
ENSG00000253463	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10101626	0.83[YRI][hapmap]
rs10112138	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505429	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs10808525	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs11781124	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12546649	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs12675780	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs1670188	0.82[CEU][hapmap]
rs1670190	0.82[CEU][hapmap]
rs16898012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713736	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs17314930	0.85[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2272724	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2385165	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs35794820	0.99[ASN][1000 genomes]
rs56673420	0.81[ASN][1000 genomes]
rs6470143	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6991182	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6991323	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7000107	1.00[CEU][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7002086	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008474	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs7818440	1.00[ASN][1000 genomes]
rs7828295	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7833077	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7834180	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1015490	chr8:124103255-124150990	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 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	chr8:124086000-124146400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:124086000-124154600	Weak transcription	Aorta	Aorta
3	chr8:124086000-124158400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:124086000-124168800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:124086000-124169000	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:124086200-124142200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:124086200-124146400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:124086200-124168800	Weak transcription	Esophagus	oesophagus
9	chr8:124086600-124145200	Weak transcription	Fetal Brain Male	brain
10	chr8:124086600-124168800	Weak transcription	Lung	lung
11	chr8:124087200-124143800	Weak transcription	Fetal Kidney	kidney
12	chr8:124095800-124142800	Weak transcription	Fetal Intestine Small	intestine
13	chr8:124096200-124168800	Weak transcription	Liver	Liver
14	chr8:124097400-124166800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:124098400-124166600	Weak transcription	Gastric	stomach
16	chr8:124098600-124145200	Weak transcription	HUVEC	blood vessel
17	chr8:124099000-124166800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:124100000-124149800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:124107400-124166800	Weak transcription	Pancreas	Pancrea
20	chr8:124109000-124169000	Weak transcription	Fetal Heart	heart
21	chr8:124109400-124143800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:124109800-124141200	Weak transcription	HepG2	liver
23	chr8:124111200-124142200	Weak transcription	Osteobl	bone
24	chr8:124111400-124151800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:124111400-124168800	Weak transcription	Brain Germinal Matrix	brain
26	chr8:124112000-124148400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:124112200-124168800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:124112400-124149000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:124112600-124168800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:124112800-124155400	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:124113000-124145200	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:124113600-124143600	Weak transcription	NHDF-Ad	bronchial
33	chr8:124113600-124169000	Weak transcription	Hela-S3	cervix
34	chr8:124114200-124146400	Weak transcription	Fetal Stomach	stomach
35	chr8:124114200-124149000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:124114400-124143600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:124114400-124168800	Weak transcription	Brain Angular Gyrus	brain
38	chr8:124114400-124168800	Weak transcription	Fetal Brain Female	brain
39	chr8:124114600-124142200	Weak transcription	Adipose Nuclei	Adipose
40	chr8:124114600-124152600	Weak transcription	Psoas Muscle	Psoas
41	chr8:124115000-124141800	Weak transcription	HSMM	muscle
42	chr8:124115200-124145400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:124115400-124147200	Weak transcription	Fetal Intestine Large	intestine
44	chr8:124115400-124149600	Weak transcription	HMEC	breast
45	chr8:124116200-124156600	Weak transcription	NHEK	skin
46	chr8:124116400-124168800	Weak transcription	Ovary	ovary
47	chr8:124118000-124144600	Weak transcription	GM12878-XiMat	blood
48	chr8:124118400-124142200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:124118600-124141800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr8:124118600-124142200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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