Variant report

Variant	rs4808866
Chromosome Location	chr19:18985097-18985098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18975867..18978694-chr19:18984023..18986004,2	MCF-7	breast:
2	chr19:18977955..18980267-chr19:18984796..18987025,2	MCF-7	breast:
3	chr19:18984024..18987729-chr19:18988322..18991283,4	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10410987	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11673194	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2005695	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2018392	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4808161	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4808163	0.97[EUR][1000 genomes]
rs4808164	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808165	0.82[CHD][hapmap];0.88[JPT][hapmap]
rs4808867	0.90[GIH][hapmap]
rs4808868	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808869	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808870	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57870078	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7250661	0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7252523	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7252796	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7257086	0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73526907	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73526909	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs757113	0.90[GIH][hapmap]
rs757114	0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs886298	0.86[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv828473	chr19:18975130-18994875	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18967400-18987600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr19:18973400-18986400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:18974600-18987600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:18975600-18986400	Weak transcription	HSMMtube	muscle
5	chr19:18978000-18987200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:18979000-18987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:18979000-18987800	Weak transcription	A549	lung
8	chr19:18979200-18985400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:18979200-18986600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr19:18979200-18987400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr19:18979200-18987600	Weak transcription	Hela-S3	cervix
12	chr19:18979200-18987800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:18979400-18986400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:18979400-18987000	Weak transcription	NHDF-Ad	bronchial
15	chr19:18979400-18989600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:18979600-18987200	Weak transcription	Aorta	Aorta
17	chr19:18979600-18987600	Weak transcription	HMEC	breast
18	chr19:18979600-18987800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr19:18979600-18991800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr19:18980000-18987800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:18980400-19004000	Weak transcription	Psoas Muscle	Psoas
22	chr19:18980400-19004200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr19:18980800-18990400	Weak transcription	Pancreas	Pancrea
24	chr19:18981000-18989200	Weak transcription	NHLF	lung
25	chr19:18981400-18998000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:18981600-18987600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:18981800-18987400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:18981800-18987600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:18981800-18987600	Strong transcription	Brain Germinal Matrix	brain
30	chr19:18981800-18987800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:18981800-18989400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr19:18981800-18997800	Weak transcription	Ovary	ovary
33	chr19:18981800-19005800	Weak transcription	Right Atrium	heart
34	chr19:18982000-18985200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:18982000-18991400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr19:18982000-19002200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr19:18982200-18986400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:18982400-18995200	Strong transcription	Brain Anterior Caudate	brain
39	chr19:18982600-18985200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr19:18982600-18987000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:18982600-18987400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr19:18982600-19000800	Weak transcription	Colon Smooth Muscle	Colon
43	chr19:18982800-18987000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr19:18982800-18987400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:18982800-18987400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:18982800-18989000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:18983200-18986400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr19:18983200-18987400	Weak transcription	Fetal Intestine Small	intestine
49	chr19:18983400-18998200	Strong transcription	Brain Cingulate Gyrus	brain
50	chr19:18983600-18987600	Strong transcription	Fetal Brain Female	brain

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