Variant report

Variant	rs4885353
Chromosome Location	chr13:76426048-76426049
allele	C/G
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	POLR2A	chr13:76425881-76426052	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76425109..76426616-chr13:76428342..76430833,2	K562	blood:

Variant related genes	Relation type
LMO7	TF binding region
ENSG00000136153	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12429913	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs17715327	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2275589	1.00[CHB][hapmap]
rs3736859	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs4885352	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs4885356	1.00[CHB][hapmap]
rs9573665	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs9573667	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs9593129	0.90[CEU][hapmap]
rs9593132	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs9600555	0.91[CEU][hapmap]
rs9600558	0.95[CEU][hapmap]
rs9600559	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs9600561	0.95[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv832649	chr13:76424872-76657891	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76387800-76427200	Weak transcription	Ovary	ovary
2	chr13:76391200-76431600	Strong transcription	Hela-S3	cervix
3	chr13:76394400-76435800	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:76396400-76432000	Weak transcription	Brain Substantia Nigra	brain
5	chr13:76396400-76436800	Weak transcription	Fetal Brain Male	brain
6	chr13:76399000-76433200	Weak transcription	Small Intestine	intestine
7	chr13:76399800-76433000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:76400800-76428400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:76406000-76428600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:76406000-76429600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr13:76406000-76430600	Strong transcription	Osteobl	bone
12	chr13:76406000-76436800	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr13:76406600-76435000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:76406800-76427800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:76408400-76435000	Strong transcription	HSMMtube	muscle
16	chr13:76408400-76435200	Strong transcription	NH-A	brain
17	chr13:76413200-76436800	Strong transcription	NHDF-Ad	bronchial
18	chr13:76413800-76437600	Strong transcription	HSMM	muscle
19	chr13:76414000-76433000	Strong transcription	Liver	Liver
20	chr13:76414200-76433400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr13:76414400-76426200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:76414400-76435200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:76415400-76429200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr13:76416000-76426800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr13:76416400-76434600	Weak transcription	Spleen	Spleen
26	chr13:76416600-76426400	Weak transcription	HUVEC	blood vessel
27	chr13:76416600-76429800	Weak transcription	Stomach Mucosa	stomach
28	chr13:76417200-76427200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr13:76417200-76427200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:76417400-76427400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr13:76417400-76429200	Weak transcription	Adipose Nuclei	Adipose
32	chr13:76417400-76431000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr13:76417400-76433000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr13:76417400-76434600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:76417400-76443800	Weak transcription	Fetal Brain Female	brain
36	chr13:76417600-76427000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr13:76417600-76427200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:76417600-76427200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr13:76417600-76427200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr13:76417600-76427200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr13:76417600-76427200	Weak transcription	Fetal Stomach	stomach
42	chr13:76417600-76427400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr13:76417600-76427400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr13:76417600-76431400	Weak transcription	Brain Angular Gyrus	brain
45	chr13:76417600-76432600	Weak transcription	Brain Hippocampus Middle	brain
46	chr13:76417600-76434200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:76417600-76436800	Weak transcription	Psoas Muscle	Psoas
48	chr13:76417600-76437800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr13:76417600-76444600	Weak transcription	HMEC	breast
50	chr13:76417800-76426600	Weak transcription	Brain Anterior Caudate	brain

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