Variant report

Variant	rs6783086
Chromosome Location	chr3:133959552-133959553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133958163..133961151-chr3:133961211..133962762,2	K562	blood:
2	chr3:133959513..133961967-chr3:133961988..133964183,2	MCF-7	breast:
3	chr3:133959235..133962152-chr3:133965404..133967966,3	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10935104	0.88[ASN][1000 genomes]
rs11915143	0.82[EUR][1000 genomes]
rs12635994	0.98[ASN][1000 genomes]
rs13068409	0.87[ASN][1000 genomes]
rs13075720	0.83[ASN][1000 genomes]
rs13099506	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28514329	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35015318	0.81[ASN][1000 genomes]
rs35111284	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35432681	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35775034	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4077158	0.98[ASN][1000 genomes]
rs4077643	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4280635	0.87[ASN][1000 genomes]
rs4404422	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439464	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6439469	0.93[ASN][1000 genomes]
rs67022177	0.98[ASN][1000 genomes]
rs6783294	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6786384	0.84[ASN][1000 genomes]
rs6795164	0.91[ASN][1000 genomes]
rs6796404	0.98[ASN][1000 genomes]
rs6804370	0.93[ASN][1000 genomes]
rs73215351	0.89[ASN][1000 genomes]
rs7429840	0.93[ASN][1000 genomes]
rs7620941	0.80[ASN][1000 genomes]
rs7623609	0.91[ASN][1000 genomes]
rs7639683	0.95[ASN][1000 genomes]
rs7641162	0.95[ASN][1000 genomes]
rs9809556	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9817270	0.81[ASN][1000 genomes]
rs9822076	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9822469	0.98[ASN][1000 genomes]
rs9822749	0.95[ASN][1000 genomes]
rs9829505	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9839609	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9846664	0.91[ASN][1000 genomes]
rs9846871	0.81[ASN][1000 genomes]
rs9858000	0.91[ASN][1000 genomes]
rs9859680	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9860060	0.81[ASN][1000 genomes]
rs9860268	0.81[ASN][1000 genomes]
rs9865773	0.83[ASN][1000 genomes]
rs9865808	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9877899	0.81[ASN][1000 genomes]
rs9880098	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9881681	0.81[ASN][1000 genomes]
rs9881896	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9882168	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9882590	0.87[ASN][1000 genomes]
rs9882927	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats 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
3	esv1794616	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	esv1798974	chr3:133949713-133973731	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv1802675	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv1815799	chr3:133949713-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv1819695	chr3:133949713-133973731	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	esv1822126	chr3:133949713-133973731	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv1839030	chr3:133949713-133973731	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133930200-133968000	Weak transcription	Fetal Kidney	kidney
2	chr3:133941000-133961600	Weak transcription	Esophagus	oesophagus
3	chr3:133941400-133967400	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:133943400-133961800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:133949800-133959600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:133950600-133961800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:133951200-133960600	Weak transcription	Thymus	Thymus
8	chr3:133951200-133966800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:133952000-133960400	Weak transcription	Hela-S3	cervix
10	chr3:133952200-133965400	Weak transcription	Dnd41	blood
11	chr3:133953200-133959800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:133953200-133967800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr3:133953400-133966800	Weak transcription	Brain Angular Gyrus	brain
14	chr3:133954400-133959600	Enhancers	NHDF-Ad	bronchial
15	chr3:133954600-133960000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:133954600-133960600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr3:133954600-133961600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:133954800-133959800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:133954800-133962400	Weak transcription	Colonic Mucosa	Colon
20	chr3:133955000-133961800	Weak transcription	Aorta	Aorta
21	chr3:133955000-133962000	Weak transcription	Fetal Intestine Large	intestine
22	chr3:133955200-133960400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:133955200-133961600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:133955600-133961800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr3:133955600-133963200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:133955800-133961400	Weak transcription	NH-A	brain
27	chr3:133956000-133964400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:133956400-133961400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:133956400-133964800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:133956600-133961400	Weak transcription	HSMM	muscle
31	chr3:133956600-133961600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr3:133956600-133961600	Weak transcription	Fetal Intestine Small	intestine
33	chr3:133956600-133963200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr3:133957200-133961200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:133957200-133963200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr3:133957200-133964600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:133957400-133961200	Weak transcription	Osteobl	bone
38	chr3:133957400-133961400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:133957400-133961600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:133957400-133961600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:133957400-133961800	Weak transcription	Fetal Lung	lung
42	chr3:133957400-133962200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:133957600-133960400	Weak transcription	Fetal Heart	heart
44	chr3:133957600-133960400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:133957600-133961600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr3:133957600-133961600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr3:133957600-133961800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr3:133957600-133962400	Weak transcription	Brain Anterior Caudate	brain
49	chr3:133957600-133967000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr3:133957600-133968000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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