Variant report

Variant	rs4713761
Chromosome Location	chr6:34209281-34209282
allele	A/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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34068167..34071108-chr6:34207523..34209656,2	K562	blood:
2	chr6:34207092..34209541-chr6:34759893..34762496,2	K562	blood:
3	chr12:110866419..110868618-chr6:34208712..34210683,2	K562	blood:
4	chr6:34191465..34193341-chr6:34208084..34210074,2	MCF-7	breast:
5	chr6:34094743..34096794-chr6:34209207..34210830,2	K562	blood:
6	chr6:34149535..34152923-chr6:34209211..34212151,3	K562	blood:
7	chr6:34209103..34211668-chr6:34357730..34361884,5	K562	blood:
8	chr6:34208449..34211320-chr6:34575823..34577812,2	K562	blood:
9	chr6:34112613..34114154-chr6:34208164..34210617,2	K562	blood:
10	chr6:34207322..34209425-chr6:34465568..34467978,2	K562	blood:
11	chr6:34208090..34210823-chr6:34391243..34393552,2	K562	blood:
12	chr6:34202383..34217863-chr6:34357259..34364960,37	K562	blood:
13	chr6:34209005..34211629-chr6:34285678..34287201,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258011	Chromatin interaction
ENSG00000124614	Chromatin interaction
ENSG00000065060	Chromatin interaction
ENSG00000124493	Chromatin interaction
ENSG00000272325	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10947487	0.80[AMR][1000 genomes]
rs1187129	0.86[AMR][1000 genomes]
rs1776891	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1776899	0.82[AMR][1000 genomes]
rs28539536	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4711389	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4713766	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56657958	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6909732	0.85[AMR][1000 genomes]
rs6911780	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6932690	0.85[AMR][1000 genomes]
rs7740907	0.84[AMR][1000 genomes]
rs7753987	0.85[AMR][1000 genomes]
rs7761883	0.80[AMR][1000 genomes]
rs928482	0.87[AMR][1000 genomes]
rs9394200	0.83[AMR][1000 genomes]
rs9394202	0.81[AMR][1000 genomes]
rs9461968	0.83[AMR][1000 genomes]
rs9461969	0.83[AMR][1000 genomes]
rs9469750	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432881	chr6:34026522-34213822	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv885782	chr6:34187206-34209516	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv885783	chr6:34187206-34209844	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	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
8	nsv602865	chr6:34203406-34217181	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	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
10	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
11	esv1840881	chr6:34204285-34231570	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	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
13	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34205400-34216600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:34206000-34212000	Weak transcription	Ovary	ovary
3	chr6:34206200-34209400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
4	chr6:34206200-34212600	Weak transcription	Aorta	Aorta
5	chr6:34206400-34210000	Weak transcription	HSMMtube	muscle
6	chr6:34206400-34210600	Weak transcription	Right Atrium	heart
7	chr6:34206400-34211600	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:34206400-34211600	Weak transcription	Left Ventricle	heart
9	chr6:34206400-34215800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:34206400-34216000	Weak transcription	Fetal Kidney	kidney
11	chr6:34206400-34216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:34206600-34209400	Weak transcription	Right Ventricle	heart
13	chr6:34206800-34210200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:34206800-34210600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:34207000-34209600	Genic enhancers	Primary T cells from cord blood	blood
16	chr6:34207000-34210600	Weak transcription	Small Intestine	intestine
17	chr6:34207000-34212000	Weak transcription	Psoas Muscle	Psoas
18	chr6:34207000-34212600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr6:34207200-34210800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:34207200-34215000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:34207400-34209600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:34207400-34210000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:34207400-34210800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr6:34207400-34211600	Transcr. at gene 5' and 3'	Hela-S3	cervix
25	chr6:34207600-34209400	Genic enhancers	Thymus	Thymus
26	chr6:34207600-34210200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:34207600-34210800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:34207600-34212200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
29	chr6:34207600-34212400	Genic enhancers	Fetal Thymus	thymus
30	chr6:34207600-34213600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:34207600-34216600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:34207800-34210400	Genic enhancers	Muscle Satellite Cultured Cells	--
33	chr6:34207800-34210600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr6:34207800-34210800	Genic enhancers	HMEC	breast
35	chr6:34207800-34211600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:34207800-34215000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:34207800-34215600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:34207800-34215800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:34208000-34209400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr6:34208000-34210800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:34208000-34211600	Weak transcription	Stomach Mucosa	stomach
42	chr6:34208200-34209800	Genic enhancers	Dnd41	blood
43	chr6:34208200-34210000	Genic enhancers	NHEK	skin
44	chr6:34208200-34210200	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr6:34208200-34210200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:34208200-34210600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:34208200-34210600	Genic enhancers	HUVEC	blood vessel
48	chr6:34208200-34211000	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr6:34208200-34211000	Strong transcription	Spleen	Spleen
50	chr6:34208200-34211400	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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