Variant report

Variant	rs4713844
Chromosome Location	chr6:35227832-35227833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35227214..35229292-chr6:35260435..35263392,2	K562	blood:
2	chr6:34202035..34205684-chr6:35227191..35229008,3	K562	blood:
3	chr3:73160089..73160610-chr6:35226975..35227865,2	Hela-S3	cervix:
4	chr5:40754825..40755698-chr6:35227582..35228201,2	Hela-S3	cervix:
5	chr6:35227633..35229883-chr6:35250389..35252972,3	K562	blood:
6	chr14:69864800..69865430-chr6:35227423..35228019,2	Hela-S3	cervix:
7	chr11:62608457..62610625-chr6:35227226..35229917,3	K562	blood:
8	chr6:35227208..35228940-chr6:35464081..35465836,2	K562	blood:
9	chr6:35226889..35228758-chr6:35259523..35261436,2	MCF-7	breast:
10	chr6:35226066..35229330-chr6:35434346..35438215,4	K562	blood:
11	chr6:34856224..34858095-chr6:35226235..35229197,2	MCF-7	breast:
12	chr6:34854986..34858344-chr6:35226281..35229493,3	K562	blood:
13	chr6:35226330..35228825-chr6:35434969..35437843,3	MCF-7	breast:
14	chr16:72127858..72128539-chr6:35227141..35228082,2	Hela-S3	cervix:
15	chr6:35227094..35229802-chr6:35433183..35436613,4	K562	blood:
16	chr19:2269411..2270247-chr6:35227292..35228062,2	Hela-S3	cervix:
17	chr6:35227789..35229882-chr6:35245132..35248269,3	K562	blood:
18	chr2:233561381..233562276-chr6:35227526..35228227,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000104904	Chromatin interaction
ENSG00000100632	Chromatin interaction
ENSG00000029364	Chromatin interaction
ENSG00000217004	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000167476	Chromatin interaction
ENSG00000065029	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000140830	Chromatin interaction
ENSG00000198755	Chromatin interaction
ENSG00000007866	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000064999	Chromatin interaction
ENSG00000064995	Chromatin interaction
ENSG00000204120	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1013907	0.81[EUR][1000 genomes]
rs1929846	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1929847	0.81[EUR][1000 genomes]
rs1929848	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1929849	0.81[EUR][1000 genomes]
rs2267658	0.81[EUR][1000 genomes]
rs2395617	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711409	0.81[EUR][1000 genomes]
rs6919534	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920747	0.81[EUR][1000 genomes]
rs6931442	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729925	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734538	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs763155	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs763157	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7767150	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296144	0.81[EUR][1000 genomes]
rs9394282	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975496	0.81[EUR][1000 genomes]

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	esv2758047	chr6:35168116-35291002	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv2759419	chr6:35168116-35291002	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv2750621	chr6:35227168-35228219	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35225400-35228000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:35226000-35228000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:35226000-35228000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:35226000-35228000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:35226000-35228000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr6:35226000-35228200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:35226000-35228200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:35226000-35228200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr6:35226000-35228200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:35226000-35228200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:35226000-35228200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr6:35226000-35228200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr6:35226000-35228200	Active TSS	Ovary	ovary
14	chr6:35226000-35228200	Active TSS	HSMM	muscle
15	chr6:35226000-35228200	Active TSS	NHLF	lung
16	chr6:35226000-35228400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:35226200-35228000	Active TSS	H1 Cell Line	embryonic stem cell
18	chr6:35226200-35228000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:35226200-35228000	Active TSS	Brain Hippocampus Middle	brain
20	chr6:35226200-35228000	Active TSS	Brain Substantia Nigra	brain
21	chr6:35226200-35228200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:35226200-35228200	Active TSS	Aorta	Aorta
23	chr6:35226200-35228400	Active TSS	Left Ventricle	heart
24	chr6:35226400-35228000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:35226400-35228000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:35226400-35228000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:35226400-35228000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr6:35226400-35228000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:35226400-35228000	Active TSS	Muscle Satellite Cultured Cells	--
30	chr6:35226400-35228000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:35226400-35228000	Active TSS	Brain Cingulate Gyrus	brain
32	chr6:35226400-35228000	Active TSS	Colon Smooth Muscle	Colon
33	chr6:35226400-35228000	Active TSS	Fetal Brain Male	brain
34	chr6:35226400-35228000	Active TSS	Fetal Kidney	kidney
35	chr6:35226400-35228000	Active TSS	Fetal Lung	lung
36	chr6:35226400-35228000	Active TSS	Placenta Amnion	Placenta Amnion
37	chr6:35226400-35228000	Active TSS	Stomach Smooth Muscle	stomach
38	chr6:35226400-35228000	Active TSS	Hela-S3	cervix
39	chr6:35226400-35228000	Active TSS	K562	blood
40	chr6:35226400-35228200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:35226400-35228200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:35226400-35228200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:35226400-35228200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:35226400-35228200	Active TSS	A549	lung
45	chr6:35226400-35228200	Active TSS	GM12878-XiMat	blood
46	chr6:35226400-35228200	Active TSS	NHDF-Ad	bronchial
47	chr6:35226400-35228400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr6:35226400-35228400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:35226400-35228400	Active TSS	Psoas Muscle	Psoas
50	chr6:35226400-35228600	Active TSS	H9 Cell Line	embryonic stem cell

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