Variant report

Variant	rs12646391
Chromosome Location	chr4:78688330-78688331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1052563	1.00[YRI][hapmap]
rs7655642	1.00[YRI][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	nsv829976	chr4:78576657-78757798	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv518757	chr4:78637265-78695138	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv1818157	chr4:78678104-78849088	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr4:78632600-78697800	Weak transcription	Colonic Mucosa	Colon
2	chr4:78640800-78697800	Weak transcription	Stomach Mucosa	stomach
3	chr4:78643800-78714000	Weak transcription	Lung	lung
4	chr4:78645400-78696200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:78650200-78697800	Weak transcription	Gastric	stomach
6	chr4:78650200-78697800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:78650200-78702800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:78650200-78720000	Weak transcription	Spleen	Spleen
9	chr4:78650800-78697800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:78654200-78697600	Weak transcription	HSMMtube	muscle
11	chr4:78657000-78695600	Weak transcription	Small Intestine	intestine
12	chr4:78659800-78697800	Weak transcription	Esophagus	oesophagus
13	chr4:78662000-78695600	Weak transcription	Ovary	ovary
14	chr4:78662000-78697600	Weak transcription	Brain Angular Gyrus	brain
15	chr4:78662000-78697800	Weak transcription	Pancreas	Pancrea
16	chr4:78662200-78697800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:78663800-78695600	Weak transcription	Left Ventricle	heart
18	chr4:78673400-78692200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:78677800-78693800	Weak transcription	Hela-S3	cervix
20	chr4:78677800-78698400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:78678000-78691200	Weak transcription	Placenta	Placenta
22	chr4:78678000-78691800	Weak transcription	HUVEC	blood vessel
23	chr4:78678000-78692400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:78678000-78698400	Weak transcription	HSMM	muscle
25	chr4:78678400-78692600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:78681200-78692800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr4:78681600-78692200	Weak transcription	Fetal Stomach	stomach
28	chr4:78682600-78693400	Weak transcription	Fetal Intestine Small	intestine
29	chr4:78682800-78692200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:78682800-78697200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:78683400-78691600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr4:78683600-78693200	Weak transcription	Fetal Intestine Large	intestine
33	chr4:78683600-78698400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:78683800-78692600	Weak transcription	Brain Germinal Matrix	brain
35	chr4:78684000-78688400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:78684000-78689800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr4:78684000-78691800	Weak transcription	Liver	Liver
38	chr4:78684000-78692000	Weak transcription	Adipose Nuclei	Adipose
39	chr4:78684000-78692200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:78684000-78692200	Weak transcription	Fetal Lung	lung
41	chr4:78684000-78692400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr4:78684000-78693000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:78684000-78693000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:78684000-78695600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:78684000-78695600	Weak transcription	HepG2	liver
46	chr4:78684000-78697400	Weak transcription	GM12878-XiMat	blood
47	chr4:78684000-78697600	Weak transcription	Brain Anterior Caudate	brain
48	chr4:78684000-78697800	Weak transcription	Fetal Brain Female	brain
49	chr4:78684000-78697800	Weak transcription	Fetal Kidney	kidney
50	chr4:78684000-78697800	Weak transcription	HMEC	breast

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