Variant report

Variant	rs11598678
Chromosome Location	chr10:4699392-4699393
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:4698515-4699750	A549	lung:	n/a	n/a
2	MAFK	chr10:4699357-4699434	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:3214002..3216232-chr10:4698748..4700563,2	K562	blood:
2	chr10:4699032..4701358-chr10:4768674..4770384,2	MCF-7	breast:

Variant related genes	Relation type
LINC00704	TF binding region
ENSG00000107959	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17370636	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4680600-4703800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:4693000-4703000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr10:4693000-4703600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr10:4693000-4703600	Weak transcription	Right Atrium	heart
5	chr10:4693200-4702400	Weak transcription	Psoas Muscle	Psoas
6	chr10:4693200-4702400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr10:4693200-4703000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:4693200-4703000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:4693200-4703800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:4693200-4703800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:4693200-4703800	Weak transcription	Pancreas	Pancrea
12	chr10:4694600-4703800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:4694800-4701600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:4694800-4704200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:4695000-4699800	Weak transcription	NHEK	skin
16	chr10:4695600-4699400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:4695600-4700600	Weak transcription	Liver	Liver
18	chr10:4696400-4705200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr10:4697000-4701000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:4697600-4699600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:4697800-4699400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr10:4697800-4704600	Weak transcription	Osteobl	bone
23	chr10:4698000-4699800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr10:4698000-4703000	Weak transcription	Fetal Muscle Leg	muscle
25	chr10:4698600-4699600	Enhancers	Adipose Nuclei	Adipose
26	chr10:4698600-4700800	Enhancers	NHDF-Ad	bronchial
27	chr10:4698800-4701200	Enhancers	Fetal Brain Male	brain
28	chr10:4699000-4699600	Enhancers	Fetal Heart	heart
29	chr10:4699000-4699600	Enhancers	Stomach Mucosa	stomach
30	chr10:4699000-4699600	Genic enhancers	HUVEC	blood vessel
31	chr10:4699000-4699800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr10:4699000-4699800	Genic enhancers	HMEC	breast
33	chr10:4699000-4700000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:4699000-4701400	Enhancers	A549	lung
35	chr10:4699000-4701400	Enhancers	HSMM	muscle
36	chr10:4699200-4700200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr10:4699200-4700400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr10:4699200-4701000	Weak transcription	Brain Angular Gyrus	brain
39	chr10:4699200-4703800	Weak transcription	Dnd41	blood
40	chr10:4699200-4704000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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