Variant report

Variant	rs4713766
Chromosome Location	chr6:34244245-34244246
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr6:34243969-34244319	K562	blood:	n/a	n/a
2	ZNF384	chr6:34244019-34244307	K562	blood:	n/a	n/a
3	CTCF	chr6:34244120-34244270	WERI-Rb-1	eye:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34241825..34244661-chr6:34360011..34362275,2	K562	blood:
2	chr6:34232764..34235632-chr6:34243482..34245527,2	MCF-7	breast:
3	chr6:34243756..34245812-chr6:34390841..34393824,2	K562	blood:
4	chr6:34242678..34244532-chr6:34357227..34359923,2	MCF-7	breast:
5	chr6:34243359..34245671-chr6:34250933..34253670,2	MCF-7	breast:
6	chr6:34239800..34242616-chr6:34243635..34245743,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225339	TF binding region
ENSG00000124614	Chromatin interaction
ENSG00000272325	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10807136	1.00[JPT][hapmap]
rs1187129	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11967909	0.83[JPT][hapmap];0.82[AMR][1000 genomes]
rs1573905	1.00[CEU][hapmap]
rs1592269	1.00[JPT][hapmap]
rs16885998	1.00[CEU][hapmap]
rs16889706	1.00[CEU][hapmap]
rs16889714	1.00[CEU][hapmap]
rs1759645	1.00[JPT][hapmap]
rs17696811	0.82[EUR][1000 genomes]
rs1776877	0.92[JPT][hapmap]
rs1776891	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1776897	1.00[JPT][hapmap]
rs2071928	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2780226	1.00[JPT][hapmap]
rs28539536	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3778077	1.00[CEU][hapmap]
rs3798562	1.00[CEU][hapmap]
rs3798564	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4711385	1.00[JPT][hapmap]
rs4711389	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4711390	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4713761	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4713770	1.00[YRI][hapmap]
rs4713774	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4713784	1.00[CEU][hapmap]
rs56657958	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60952447	0.82[AMR][1000 genomes]
rs6909732	1.00[CEU][hapmap]
rs6911780	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7740907	0.84[AMR][1000 genomes]
rs7742369	1.00[JPT][hapmap]
rs7761883	0.80[AMR][1000 genomes]
rs9394200	1.00[CEU][hapmap]
rs9469762	0.81[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	nsv885781	chr6:34110257-34247661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv462903	chr6:34110257-34263743	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv602863	chr6:34110257-34263743	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv885784	chr6:34187206-34246714	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	esv1798756	chr6:34203406-34319041	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	esv1798835	chr6:34204183-34319041	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	esv1792088	chr6:34204285-34318837	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	esv1793127	chr6:34204285-34319041	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	esv3377596	chr6:34243274-34247372	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34218200-34255000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:34228600-34247000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:34229000-34246800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:34231200-34246600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:34233000-34251800	Weak transcription	NHDF-Ad	bronchial
6	chr6:34233200-34245400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:34234200-34247600	Weak transcription	Brain Germinal Matrix	brain
8	chr6:34235800-34245600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:34237000-34246600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:34238400-34259400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:34239000-34247600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:34239200-34246000	Weak transcription	Brain Angular Gyrus	brain
13	chr6:34239600-34247000	Weak transcription	Fetal Brain Female	brain
14	chr6:34239800-34245400	Weak transcription	Fetal Stomach	stomach
15	chr6:34240000-34244800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr6:34240000-34246200	Enhancers	Left Ventricle	heart
17	chr6:34240200-34245400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:34240200-34249000	Weak transcription	NHLF	lung
19	chr6:34240200-34250200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:34240200-34255200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:34240400-34249600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:34240400-34251800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:34240400-34255000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:34240400-34259800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:34240400-34259800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr6:34240600-34246000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr6:34240600-34247200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr6:34240600-34250400	Weak transcription	Brain Substantia Nigra	brain
29	chr6:34240600-34269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr6:34240800-34261000	Weak transcription	Fetal Kidney	kidney
31	chr6:34241000-34248600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:34241200-34245600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:34241400-34245800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr6:34241400-34246600	Weak transcription	Fetal Intestine Small	intestine
35	chr6:34241400-34260000	Weak transcription	Esophagus	oesophagus
36	chr6:34241600-34244800	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:34241600-34245400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:34241600-34245400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:34241600-34246600	Weak transcription	Dnd41	blood
40	chr6:34241600-34249600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:34241600-34250400	Weak transcription	Fetal Thymus	thymus
42	chr6:34241600-34252800	Weak transcription	Stomach Mucosa	stomach
43	chr6:34241800-34244400	Weak transcription	Fetal Heart	heart
44	chr6:34241800-34244600	Weak transcription	Placenta	Placenta
45	chr6:34241800-34244600	Weak transcription	Pancreas	Pancrea
46	chr6:34241800-34244800	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr6:34241800-34245600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:34241800-34245600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:34241800-34246200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:34241800-34247800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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