Variant report

Variant	rs12184601
Chromosome Location	chr13:76333867-76333868
allele	A/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	chr13:76333862-76334065	ProgFib	skin:	n/a	n/a
2	CTCF	chr13:76333760-76333910	GM12872	blood:	n/a	n/a

Variant related genes	Relation type
LMO7	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17065005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4514560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56030259	0.89[EUR][1000 genomes]
rs61958154	0.82[EUR][1000 genomes]
rs9600546	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9805323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76308200-76345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:76322400-76334800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:76323800-76336600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr13:76323800-76356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:76324000-76335200	Weak transcription	NH-A	brain
6	chr13:76324200-76334800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:76325200-76335200	Weak transcription	Ovary	ovary
8	chr13:76326000-76334600	Weak transcription	Fetal Lung	lung
9	chr13:76329200-76335600	Weak transcription	Primary B cells from cord blood	blood
10	chr13:76330600-76334400	Genic enhancers	Osteobl	bone
11	chr13:76330600-76334800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:76331400-76334600	Enhancers	NHDF-Ad	bronchial
13	chr13:76331800-76334000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr13:76331800-76334000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr13:76331800-76334000	Weak transcription	Fetal Thymus	thymus
16	chr13:76331800-76334600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr13:76332000-76334000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr13:76332000-76334000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr13:76332000-76334200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr13:76332000-76334400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr13:76332000-76336600	Weak transcription	Small Intestine	intestine
22	chr13:76332200-76334200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr13:76332200-76334400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr13:76332400-76334000	Weak transcription	Primary T cells from cord blood	blood
25	chr13:76332400-76334000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr13:76332400-76334000	Weak transcription	NHLF	lung
27	chr13:76332400-76334600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr13:76332600-76334400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr13:76333000-76334000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:76333200-76334000	Enhancers	Gastric	stomach
31	chr13:76333200-76334200	Enhancers	Fetal Intestine Large	intestine
32	chr13:76333400-76334200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr13:76333600-76334000	Genic enhancers	Muscle Satellite Cultured Cells	--
34	chr13:76333600-76334400	Enhancers	Liver	Liver
35	chr13:76333600-76334800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:76333600-76338800	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr13:76333800-76334000	Enhancers	Fetal Brain Male	brain
38	chr13:76333800-76334000	Enhancers	Fetal Brain Female	brain
39	chr13:76333800-76334000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr13:76333800-76334000	Active TSS	HepG2	liver
41	chr13:76333800-76334200	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr13:76333800-76334200	Enhancers	Esophagus	oesophagus
43	chr13:76333800-76334200	Flanking Active TSS	Stomach Mucosa	stomach
44	chr13:76333800-76334200	Enhancers	A549	lung
45	chr13:76333800-76334400	Enhancers	Pancreas	Pancrea
46	chr13:76333800-76334400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr13:76333800-76334400	Enhancers	Thymus	Thymus
48	chr13:76333800-76334400	Flanking Active TSS	Hela-S3	cervix
49	chr13:76333800-76334600	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr13:76333800-76334600	Genic enhancers	HSMM	muscle

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