Variant report

Variant	rs589613
Chromosome Location	chr6:131485104-131485105
allele	C/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	CEBPB	chr6:131485036-131485331	HepG2	liver:	n/a	chr6:131485179-131485190
2	ARID3A	chr6:131485073-131485283	HepG2	liver:	n/a	n/a
3	EP300	chr6:131484955-131485409	HepG2	liver:	n/a	n/a
4	CEBPB	chr6:131485004-131485348	IMR90	lung:	n/a	chr6:131485179-131485190

Variant related genes	Relation type
AKAP7	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10214430	0.84[ASN][1000 genomes]
rs12665724	0.83[ASN][1000 genomes]
rs17060063	0.83[ASN][1000 genomes]
rs17060068	0.83[ASN][1000 genomes]
rs2761285	0.83[ASN][1000 genomes]
rs3777468	0.84[ASN][1000 genomes]
rs73633154	0.83[ASN][1000 genomes]
rs9483224	0.85[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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131457200-131493400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:131457200-131504400	Weak transcription	Spleen	Spleen
3	chr6:131457600-131505600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:131457600-131520800	Weak transcription	Right Ventricle	heart
5	chr6:131457800-131486800	Weak transcription	Primary B cells from cord blood	blood
6	chr6:131457800-131487800	Weak transcription	Psoas Muscle	Psoas
7	chr6:131457800-131504200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr6:131457800-131504200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:131458000-131485400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:131458000-131487000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:131458000-131498800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:131458000-131505600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:131458000-131505800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:131458200-131486600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:131458200-131505200	Weak transcription	Fetal Lung	lung
16	chr6:131458200-131513400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:131458400-131498000	Weak transcription	Aorta	Aorta
18	chr6:131458400-131504200	Weak transcription	Dnd41	blood
19	chr6:131461200-131494600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr6:131461400-131485400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr6:131464000-131499200	Weak transcription	Fetal Stomach	stomach
22	chr6:131464200-131486600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:131464800-131499200	Weak transcription	Esophagus	oesophagus
24	chr6:131467800-131486600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:131468000-131486400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:131468200-131499800	Weak transcription	Lung	lung
27	chr6:131469000-131486800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:131469200-131504200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr6:131481200-131494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:131481200-131504400	Weak transcription	HSMM	muscle
31	chr6:131481400-131486800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:131481600-131485200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:131481600-131485800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:131481800-131485400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:131482200-131486000	Weak transcription	Adipose Nuclei	Adipose
36	chr6:131482600-131485200	Weak transcription	Fetal Intestine Large	intestine
37	chr6:131483000-131489800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:131483000-131506200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr6:131483200-131487600	Strong transcription	Liver	Liver
40	chr6:131483600-131485400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr6:131483600-131504200	Weak transcription	Pancreas	Pancrea
42	chr6:131483800-131485600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:131483800-131486000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:131483800-131486800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:131484000-131485600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr6:131484000-131504200	Weak transcription	Primary T cells from cord blood	blood
47	chr6:131484200-131485200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:131484200-131485200	Weak transcription	Ovary	ovary
49	chr6:131484200-131485400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr6:131484200-131485600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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