Variant report

Variant	rs12111151
Chromosome Location	chr6:131896074-131896075
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	MAFK	chr6:131896056-131896342	HepG2	liver:	n/a	chr6:131896175-131896195
2	NR2F2	chr6:131894947-131896141	HepG2	liver:	n/a	n/a
3	MAFK	chr6:131896017-131896356	HepG2	liver:	n/a	chr6:131896175-131896195

Variant related genes	Relation type
ARG1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3850248	1.00[CHD][hapmap]
rs9968802	1.00[AMR][1000 genomes]
rs9968854	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv2829868	chr6:131729859-131898208	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv886668	chr6:131814865-131954797	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131883400-131914000	Weak transcription	Pancreas	Pancrea
2	chr6:131886800-131899400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:131887800-131910600	Weak transcription	Small Intestine	intestine
4	chr6:131888200-131903400	Weak transcription	Fetal Stomach	stomach
5	chr6:131888200-131908800	Weak transcription	Brain Angular Gyrus	brain
6	chr6:131888400-131897800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:131888400-131902000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:131888400-131902200	Weak transcription	GM12878-XiMat	blood
9	chr6:131888600-131900000	Weak transcription	Left Ventricle	heart
10	chr6:131888600-131905800	Weak transcription	Aorta	Aorta
11	chr6:131889600-131897000	Weak transcription	Fetal Intestine Large	intestine
12	chr6:131889600-131898000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:131889600-131898400	Weak transcription	Fetal Lung	lung
14	chr6:131889600-131900000	Weak transcription	Ovary	ovary
15	chr6:131889600-131902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:131889600-131923200	Weak transcription	Esophagus	oesophagus
17	chr6:131890200-131900200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr6:131890200-131902200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:131890400-131901200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:131890600-131909600	Weak transcription	Psoas Muscle	Psoas
21	chr6:131890800-131900400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr6:131890800-131908000	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:131890800-131910600	Weak transcription	Brain Substantia Nigra	brain
24	chr6:131891200-131896400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:131891200-131897000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:131891600-131896400	Weak transcription	Adipose Nuclei	Adipose
27	chr6:131892000-131900000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:131892200-131899200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:131892200-131899400	Weak transcription	Placenta	Placenta
30	chr6:131892200-131901600	Weak transcription	NH-A	brain
31	chr6:131892200-131902200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr6:131892400-131897800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:131892400-131900000	Weak transcription	HSMMtube	muscle
34	chr6:131892400-131905800	Weak transcription	Fetal Intestine Small	intestine
35	chr6:131892400-131941400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:131892600-131899400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:131892600-131899800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:131892800-131897000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr6:131892800-131898000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:131892800-131900000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:131892800-131900000	Weak transcription	Thymus	Thymus
42	chr6:131892800-131900800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr6:131892800-131902400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr6:131892800-131905800	Weak transcription	Lung	lung
45	chr6:131893000-131899400	Weak transcription	Dnd41	blood
46	chr6:131893000-131902200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr6:131893000-131903400	Weak transcription	Fetal Brain Male	brain
48	chr6:131893200-131897000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:131893400-131898400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:131893400-131899600	Weak transcription	Osteobl	bone

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