Variant report

Variant	rs4713987
Chromosome Location	chr6:36599010-36599011
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36597486..36599707-chr6:36615187..36618681,3	MCF-7	breast:
2	chr6:36593028..36595408-chr6:36598943..36601899,2	MCF-7	breast:
3	chr6:36592594..36594352-chr6:36598333..36600462,2	K562	blood:
4	chr6:36577411..36580093-chr6:36598443..36601341,2	K562	blood:
5	chr6:36598994..36606227-chr6:36643995..36648555,17	MCF-7	breast:
6	chr6:36560968..36563809-chr6:36597718..36600629,3	K562	blood:
7	chr12:120728269..120730089-chr6:36597949..36599449,2	K562	blood:
8	chr6:36593706..36596301-chr6:36598254..36600267,2	MCF-7	breast:
9	chr6:36581748..36603537-chr6:36641861..36652365,77	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000202538	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000124762	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10214849	0.91[EUR][1000 genomes]
rs10223366	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10807169	0.83[EUR][1000 genomes]
rs10947613	0.93[EUR][1000 genomes]
rs12153820	0.83[EUR][1000 genomes]
rs12197590	0.84[EUR][1000 genomes]
rs1406945	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1812018	0.83[EUR][1000 genomes]
rs1812019	0.83[EUR][1000 genomes]
rs1812020	0.82[EUR][1000 genomes]
rs2145048	0.83[EUR][1000 genomes]
rs4713988	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56144242	0.82[EUR][1000 genomes]
rs60627328	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61211228	0.83[EUR][1000 genomes]
rs671516	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6937430	0.92[EUR][1000 genomes]
rs73410251	0.93[EUR][1000 genomes]
rs7741888	0.83[EUR][1000 genomes]
rs7747264	0.81[EUR][1000 genomes]
rs7755461	0.92[EUR][1000 genomes]
rs7759546	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7759778	0.83[EUR][1000 genomes]
rs7759933	0.83[EUR][1000 genomes]
rs7760766	0.83[EUR][1000 genomes]
rs7767296	0.83[EUR][1000 genomes]
rs7771547	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9296192	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9357217	0.83[EUR][1000 genomes]
rs9357219	0.83[EUR][1000 genomes]
rs9366907	0.83[EUR][1000 genomes]
rs9366908	0.83[EUR][1000 genomes]
rs9366909	0.83[EUR][1000 genomes]
rs9366911	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368938	0.83[EUR][1000 genomes]
rs9368940	0.83[EUR][1000 genomes]
rs9368942	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9380577	0.83[EUR][1000 genomes]
rs9380580	0.83[EUR][1000 genomes]
rs9380582	0.83[EUR][1000 genomes]
rs9394362	0.83[EUR][1000 genomes]
rs9394363	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	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36580200-36599200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:36581400-36604400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:36582800-36610800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:36593400-36599200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:36593400-36601600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:36593600-36601800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:36593800-36601400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:36595600-36601800	Weak transcription	Lung	lung
9	chr6:36595800-36599200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:36595800-36601000	Weak transcription	Stomach Mucosa	stomach
11	chr6:36595800-36601200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:36595800-36601200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:36595800-36601800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:36595800-36601800	Weak transcription	Fetal Thymus	thymus
15	chr6:36595800-36601800	Weak transcription	Right Ventricle	heart
16	chr6:36595800-36602000	Weak transcription	Gastric	stomach
17	chr6:36596000-36599200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:36596000-36599200	Weak transcription	Left Ventricle	heart
19	chr6:36596000-36601200	Weak transcription	Fetal Lung	lung
20	chr6:36596000-36601200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:36596000-36601600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:36596000-36602000	Weak transcription	HSMM	muscle
23	chr6:36597000-36603000	Enhancers	Fetal Muscle Leg	muscle
24	chr6:36597200-36599200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:36597200-36601200	Weak transcription	Colonic Mucosa	Colon
26	chr6:36597200-36601600	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:36597400-36599200	Weak transcription	Placenta	Placenta
28	chr6:36597400-36601000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:36597400-36601000	Weak transcription	Fetal Intestine Small	intestine
30	chr6:36597400-36601200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:36597400-36601200	Weak transcription	Fetal Intestine Large	intestine
32	chr6:36597400-36601200	Weak transcription	Pancreas	Pancrea
33	chr6:36597400-36601200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr6:36597400-36601200	Weak transcription	HUVEC	blood vessel
35	chr6:36597400-36601400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:36597400-36601600	Weak transcription	Right Atrium	heart
37	chr6:36597400-36601800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:36597400-36601800	Weak transcription	Brain Substantia Nigra	brain
39	chr6:36597400-36601800	Weak transcription	Ovary	ovary
40	chr6:36597400-36602000	Weak transcription	Fetal Kidney	kidney
41	chr6:36597600-36601400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:36597600-36601400	Weak transcription	Adipose Nuclei	Adipose
43	chr6:36597600-36601800	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:36598400-36601600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr6:36598800-36599400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr6:36598800-36602400	Enhancers	Fetal Heart	heart
47	chr6:36599000-36599200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:36599000-36599400	Enhancers	A549	lung
49	chr6:36599000-36599600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:36599000-36599600	Enhancers	Cortex derived primary cultured neurospheres	brain

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