Variant report

Variant	rs6807533
Chromosome Location	chr3:141055901-141055902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141052445..141054291-chr3:141054574..141056796,2	MCF-7	breast:
2	chr3:141054751..141056991-chr3:141142273..141144878,2	MCF-7	breast:
3	chr3:141051493..141053770-chr3:141054601..141056565,2	K562	blood:
4	chr3:141054208..141057606-chr3:141059807..141061537,3	K562	blood:
5	chr3:141051493..141053638-chr3:141053830..141056565,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13088239	0.99[ASN][1000 genomes]
rs13094525	0.99[ASN][1000 genomes]
rs1511380	0.86[YRI][hapmap]
rs1983233	0.87[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs1983235	0.88[YRI][hapmap]
rs2871887	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs4325905	0.92[YRI][hapmap]
rs4683600	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs6439999	0.96[ASN][1000 genomes]
rs6777886	0.91[YRI][hapmap]
rs6778010	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6795197	0.91[YRI][hapmap]
rs6795377	0.92[YRI][hapmap]
rs72986540	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72986545	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7616781	0.92[YRI][hapmap]
rs7624559	0.87[CEU][hapmap]
rs7636469	0.92[YRI][hapmap]
rs9825379	0.87[CEU][hapmap]
rs9829470	0.92[YRI][hapmap]
rs9843461	0.92[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv460871	chr3:141027614-141074962	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv591893	chr3:141027614-141074962	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141049000-141056600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:141049200-141057000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:141049400-141056800	Enhancers	NHLF	lung
4	chr3:141050600-141057000	Enhancers	NHDF-Ad	bronchial
5	chr3:141052200-141056400	Enhancers	A549	lung
6	chr3:141052400-141056000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:141052400-141056000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:141052600-141056000	Weak transcription	Colonic Mucosa	Colon
9	chr3:141052600-141056000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:141052600-141056600	Enhancers	Osteobl	bone
11	chr3:141053400-141056600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:141053800-141056800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:141053800-141058200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:141054000-141056600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:141054200-141056000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:141054200-141056600	Enhancers	Hela-S3	cervix
17	chr3:141054200-141057000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:141054400-141056000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:141054400-141056000	Enhancers	NH-A	brain
20	chr3:141054400-141056600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:141054400-141056600	Enhancers	K562	blood
22	chr3:141054400-141056800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:141054400-141056800	Enhancers	HSMMtube	muscle
24	chr3:141054800-141056000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr3:141054800-141057000	Enhancers	HMEC	breast
26	chr3:141055400-141056400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:141055400-141056600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr3:141055400-141056800	Enhancers	Primary B cells from peripheral blood	blood
29	chr3:141055400-141056800	Enhancers	HSMM	muscle
30	chr3:141055400-141056800	Enhancers	HUVEC	blood vessel
31	chr3:141055600-141056000	Enhancers	Brain Hippocampus Middle	brain
32	chr3:141055600-141056000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr3:141055600-141056400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:141055600-141056400	Enhancers	Small Intestine	intestine
35	chr3:141055600-141056600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:141055600-141056600	Enhancers	Primary B cells from cord blood	blood
37	chr3:141055600-141056600	Enhancers	Brain Substantia Nigra	brain
38	chr3:141055600-141056600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr3:141055600-141056800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:141055600-141056800	Enhancers	NHEK	skin
41	chr3:141055600-141057000	Flanking Active TSS	GM12878-XiMat	blood
42	chr3:141055800-141056200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:141055800-141056200	Enhancers	Primary hematopoietic stem cells	blood
44	chr3:141055800-141056400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:141055800-141056600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr3:141055800-141056600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:141055800-141056600	Enhancers	Duodenum Mucosa	Duodenum
48	chr3:141055800-141056600	Enhancers	Fetal Intestine Large	intestine
49	chr3:141055800-141056600	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr3:141055800-141056800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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