Variant report

Variant	rs2130411
Chromosome Location	chr8:48518154-48518155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48518004..48520090-chr8:48648537..48650198,2	K562	blood:
2	chr8:48516911..48521430-chr8:48646759..48650653,4	K562	blood:
3	chr8:48516477..48519191-chr8:48648055..48649779,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10094128	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10109113	0.82[EUR][1000 genomes]
rs10441581	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10957370	0.93[JPT][hapmap];0.91[YRI][hapmap]
rs11778548	0.82[CEU][hapmap]
rs11782572	0.82[CEU][hapmap]
rs12674784	0.88[JPT][hapmap]
rs12678110	0.83[CEU][hapmap]
rs13279327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[ASN][1000 genomes]
rs1542721	0.87[JPT][hapmap]
rs16930163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16930230	0.87[JPT][hapmap]
rs2029239	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2129617	0.82[CEU][hapmap]
rs4436571	0.85[EUR][1000 genomes]
rs4486659	0.84[EUR][1000 genomes]
rs4594029	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4873101	0.94[JPT][hapmap];0.87[YRI][hapmap]
rs4873386	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4873446	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4873463	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[EUR][1000 genomes]
rs4873478	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873529	0.83[CEU][hapmap]
rs4873546	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4873619	0.83[CEU][hapmap]
rs6472450	0.83[YRI][hapmap]
rs6472452	0.93[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap]
rs6986054	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6987043	0.83[CEU][hapmap]
rs7462209	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7827571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7830859	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7833589	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs7842068	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1029297	chr8:48468835-48530803	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1030163	chr8:48468835-48544495	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48466800-48522600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:48498600-48522600	Weak transcription	Fetal Stomach	stomach
3	chr8:48503600-48535000	Weak transcription	Dnd41	blood
4	chr8:48506400-48522600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:48506600-48525400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:48506600-48530600	Weak transcription	HepG2	liver
7	chr8:48507200-48522600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:48507800-48522400	Weak transcription	HSMM	muscle
9	chr8:48508400-48518400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:48509800-48518600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:48510000-48518400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:48510400-48523400	Weak transcription	Hela-S3	cervix
13	chr8:48510600-48522800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:48510600-48523000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:48510600-48545400	Weak transcription	Esophagus	oesophagus
16	chr8:48511600-48518400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:48511800-48519400	Weak transcription	Ovary	ovary
18	chr8:48511800-48521200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:48511800-48523000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:48512200-48556600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:48512400-48522800	Weak transcription	Aorta	Aorta
22	chr8:48512400-48522800	Weak transcription	Spleen	Spleen
23	chr8:48513000-48532000	Weak transcription	Fetal Intestine Small	intestine
24	chr8:48513600-48522800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:48513800-48520000	Weak transcription	A549	lung
26	chr8:48514000-48520600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:48514000-48536800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:48514200-48522200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:48514400-48522400	Weak transcription	NHDF-Ad	bronchial
30	chr8:48514400-48522800	Weak transcription	Primary B cells from cord blood	blood
31	chr8:48514400-48522800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:48514400-48522800	Weak transcription	Placenta	Placenta
33	chr8:48514400-48522800	Weak transcription	Lung	lung
34	chr8:48514800-48523600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr8:48515000-48522800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr8:48515000-48524800	Weak transcription	Small Intestine	intestine
37	chr8:48515200-48522200	Weak transcription	NHLF	lung
38	chr8:48515200-48525200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:48515200-48525200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:48515600-48532000	Weak transcription	Fetal Lung	lung
41	chr8:48515800-48540200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:48516000-48523400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr8:48516000-48525200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:48516200-48524800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:48516200-48528400	Weak transcription	Fetal Brain Male	brain
46	chr8:48516400-48525200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr8:48516800-48518400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:48516800-48518600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:48516800-48518600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:48516800-48518800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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