Variant report

Variant	rs6805568
Chromosome Location	chr3:134247863-134247864
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr3:134247778-134248060	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:134246398..134248873-chr3:134254340..134256728,2	MCF-7	breast:

Variant related genes	Relation type
CEP63	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10804633	1.00[AMR][1000 genomes]
rs10935122	1.00[AMR][1000 genomes]
rs12632372	1.00[AMR][1000 genomes]
rs4345111	0.94[AFR][1000 genomes]
rs4396934	1.00[AMR][1000 genomes]
rs4440162	1.00[AMR][1000 genomes]
rs4560339	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4596189	1.00[AMR][1000 genomes]
rs4955477	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4955535	1.00[AMR][1000 genomes]
rs4955549	1.00[AMR][1000 genomes]
rs6439485	1.00[AMR][1000 genomes]
rs6439486	1.00[AMR][1000 genomes]
rs6439490	1.00[AMR][1000 genomes]
rs6439505	1.00[AMR][1000 genomes]
rs6776208	1.00[AMR][1000 genomes]
rs6777283	1.00[AMR][1000 genomes]
rs6805896	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6806608	1.00[AMR][1000 genomes]
rs7356009	1.00[AMR][1000 genomes]
rs7372999	1.00[AMR][1000 genomes]
rs7609638	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7609727	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7633582	1.00[AMR][1000 genomes]
rs9289473	1.00[AMR][1000 genomes]
rs9289477	1.00[AMR][1000 genomes]
rs9844020	1.00[AMR][1000 genomes]
rs9870217	1.00[AMR][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	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv829730	chr3:134199097-134359544	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1002382	chr3:134239191-134358001	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134206600-134251600	Weak transcription	Colonic Mucosa	Colon
2	chr3:134225000-134255800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:134225200-134256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:134230800-134251800	Weak transcription	Aorta	Aorta
5	chr3:134230800-134256000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr3:134231200-134255800	Weak transcription	Placenta	Placenta
7	chr3:134236200-134256400	Weak transcription	A549	lung
8	chr3:134236200-134267000	Weak transcription	HSMM	muscle
9	chr3:134237000-134256000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:134237000-134256200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:134242600-134251200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr3:134242600-134251600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:134242600-134256200	Weak transcription	NHEK	skin
14	chr3:134244600-134251400	Weak transcription	Dnd41	blood
15	chr3:134244600-134251600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr3:134244800-134251200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:134244800-134251600	Weak transcription	Liver	Liver
18	chr3:134244800-134251800	Weak transcription	Fetal Intestine Large	intestine
19	chr3:134244800-134256000	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:134244800-134269600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:134245000-134251800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr3:134245000-134253400	Weak transcription	Fetal Muscle Leg	muscle
23	chr3:134245000-134255800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:134245000-134255800	Weak transcription	Fetal Intestine Small	intestine
25	chr3:134245200-134251200	Weak transcription	Primary T cells from cord blood	blood
26	chr3:134245200-134251600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:134245200-134251800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:134245400-134253000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr3:134245600-134251600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr3:134245600-134251800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:134245600-134251800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:134246000-134256200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr3:134246000-134256200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:134246200-134251400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:134246200-134251600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:134246200-134255800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:134246200-134280800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:134246400-134254400	Weak transcription	Thymus	Thymus
39	chr3:134246400-134255800	Weak transcription	Spleen	Spleen
40	chr3:134246400-134256000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr3:134246400-134256000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr3:134246400-134265400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr3:134246600-134250600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:134246600-134250600	Weak transcription	Fetal Thymus	thymus
45	chr3:134246600-134251400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr3:134246600-134251600	Weak transcription	Primary B cells from cord blood	blood
47	chr3:134246600-134255800	Weak transcription	Gastric	stomach
48	chr3:134246600-134255800	Weak transcription	Pancreas	Pancrea
49	chr3:134246600-134255800	Weak transcription	NHDF-Ad	bronchial
50	chr3:134246600-134256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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