Variant report

Variant	rs313491
Chromosome Location	chr10:4703844-4703845
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:4703800-4703950	AG10803	skin:	n/a	n/a
2	MXI1	chr10:4703770-4704540	HepG2	liver:	n/a	n/a
3	CTCF	chr10:4703840-4703990	HMF	breast:	n/a	n/a
4	GATA3	chr10:4703816-4704318	MCF-7	breast:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:4703699..4707665-chr10:4763385..4769263,9	MCF-7	breast:
2	chr10:3873499..3876423-chr10:4703265..4705596,2	MCF-7	breast:
3	chr10:4703565..4707087-chr10:4805209..4809008,5	MCF-7	breast:
4	chr10:4703462..4705241-chr10:4867377..4869732,2	MCF-7	breast:
5	chr10:4691378..4694078-chr10:4702195..4704638,2	MCF-7	breast:
6	chr10:4701957..4706155-chr10:4806561..4810168,4	MCF-7	breast:
7	chr10:4702931..4705070-chr10:4793409..4795730,2	MCF-7	breast:
8	chr10:4702583..4705681-chr10:4760032..4763003,3	MCF-7	breast:
9	chr10:4582239..4584418-chr10:4702344..4704094,2	MCF-7	breast:
10	chr10:4702023..4704099-chr19:35939422..35942094,2	MCF-7	breast:
11	chr10:4702078..4707095-chr10:4773802..4779822,17	MCF-7	breast:
12	chr10:4702582..4706500-chr10:4772852..4778695,11	MCF-7	breast:
13	chr10:3826531..3829681-chr10:4703609..4706430,7	MCF-7	breast:
14	chr10:4320010..4324018-chr10:4702839..4706546,5	MCF-7	breast:
15	chr10:4701367..4707262-chr10:4764196..4772300,19	MCF-7	breast:

No data

Variant related genes	Relation type
LINC00704	TF binding region
ENSG00000230573	Chromatin interaction
ENSG00000067082	Chromatin interaction
ENSG00000165568	Chromatin interaction
ENSG00000126262	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11252639	0.94[EUR][1000 genomes]
rs11252644	0.95[EUR][1000 genomes]
rs11252650	0.95[EUR][1000 genomes]
rs167511	0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2123352	0.96[ASN][1000 genomes]
rs2647337	0.96[ASN][1000 genomes]
rs313450	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313452	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313454	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313457	0.96[ASN][1000 genomes]
rs313490	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs313494	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs386948	0.96[ASN][1000 genomes]
rs45608837	0.95[EUR][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	nsv894787	chr10:4385379-4857717	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv1798456	chr10:4689138-4731081	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1817443	chr10:4689138-4731081	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1831014	chr10:4689138-4731081	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1838419	chr10:4689138-4731081	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1805926	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv1809203	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1840346	chr10:4689842-4720626	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1842933	chr10:4689842-4720626	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1848476	chr10:4689842-4720626	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv1800904	chr10:4700968-4710298	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv1793713	chr10:4700968-4711764	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv511436	chr10:4700968-4711764	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4694800-4704200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr10:4696400-4705200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr10:4697800-4704600	Weak transcription	Osteobl	bone
4	chr10:4699200-4704000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:4699800-4704200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:4699800-4705200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:4700800-4705000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr10:4701000-4704000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:4701200-4704000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr10:4701200-4704200	Weak transcription	Brain Anterior Caudate	brain
11	chr10:4701200-4705000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr10:4701200-4705400	Weak transcription	Fetal Brain Male	brain
13	chr10:4701400-4704200	Weak transcription	Brain Hippocampus Middle	brain
14	chr10:4702000-4704000	Weak transcription	HMEC	breast
15	chr10:4702400-4704000	Enhancers	Psoas Muscle	Psoas
16	chr10:4702600-4708000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:4703000-4704200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr10:4703000-4704400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:4703000-4704800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr10:4703000-4705000	Enhancers	Right Ventricle	heart
21	chr10:4703000-4705200	Enhancers	Fetal Muscle Trunk	muscle
22	chr10:4703000-4705800	Enhancers	Fetal Muscle Leg	muscle
23	chr10:4703000-4705800	Enhancers	Ovary	ovary
24	chr10:4703200-4704000	Weak transcription	Gastric	stomach
25	chr10:4703200-4705200	Enhancers	Left Ventricle	heart
26	chr10:4703400-4704000	Flanking Active TSS	Fetal Heart	heart
27	chr10:4703400-4704000	Enhancers	HSMMtube	muscle
28	chr10:4703400-4704800	Enhancers	HSMM	muscle
29	chr10:4703400-4705000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:4703400-4705200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr10:4703600-4704200	Flanking Active TSS	Liver	Liver
32	chr10:4703600-4704200	Strong transcription	HUVEC	blood vessel
33	chr10:4703600-4704400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr10:4703600-4706000	Enhancers	Placenta	Placenta
35	chr10:4703600-4706600	Enhancers	Colon Smooth Muscle	Colon
36	chr10:4703600-4706600	Enhancers	NHLF	lung
37	chr10:4703600-4707000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:4703600-4707000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr10:4703600-4708200	Enhancers	NHDF-Ad	bronchial
40	chr10:4703600-4708400	Enhancers	Fetal Intestine Small	intestine
41	chr10:4703800-4704000	Flanking Active TSS	Right Atrium	heart
42	chr10:4703800-4704200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:4703800-4704200	Flanking Active TSS	Stomach Mucosa	stomach
44	chr10:4703800-4704400	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr10:4703800-4704400	Enhancers	A549	lung
46	chr10:4703800-4704400	Flanking Active TSS	HepG2	liver
47	chr10:4703800-4704800	Enhancers	NHEK	skin
48	chr10:4703800-4705000	Enhancers	Lung	lung
49	chr10:4703800-4705200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr10:4703800-4705200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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