Variant report

Variant	rs72864913
Chromosome Location	chr4:78654799-78654800
allele	A/C
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	STAT3	chr4:78654641-78655137	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
CNOT6L	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56754316	1.00[AFR][1000 genomes]
rs59899206	1.00[AFR][1000 genomes]
rs72864947	1.00[AFR][1000 genomes]
rs72866657	1.00[AFR][1000 genomes]
rs72866694	1.00[AFR][1000 genomes]
rs72868229	1.00[AFR][1000 genomes]
rs72868232	1.00[AFR][1000 genomes]
rs72868257	1.00[AFR][1000 genomes]
rs72868261	1.00[AFR][1000 genomes]
rs72868270	1.00[AFR][1000 genomes]
rs72868296	1.00[AFR][1000 genomes]
rs72869530	1.00[AFR][1000 genomes]
rs72869540	1.00[AFR][1000 genomes]
rs72869555	1.00[AFR][1000 genomes]
rs72869556	1.00[AFR][1000 genomes]
rs72869579	1.00[AFR][1000 genomes]
rs72869582	1.00[AFR][1000 genomes]
rs72869586	1.00[AFR][1000 genomes]
rs72871123	1.00[AFR][1000 genomes]
rs72871134	1.00[AFR][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	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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78629200-78676600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:78629400-78656200	Weak transcription	Small Intestine	intestine
3	chr4:78630200-78660000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:78631200-78656000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:78632600-78697800	Weak transcription	Colonic Mucosa	Colon
6	chr4:78636400-78659000	Weak transcription	Psoas Muscle	Psoas
7	chr4:78636800-78655400	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr4:78637400-78661200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:78637400-78673200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:78638800-78655200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr4:78639200-78661200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:78639400-78671200	Weak transcription	Brain Germinal Matrix	brain
13	chr4:78640200-78656200	Strong transcription	Fetal Thymus	thymus
14	chr4:78640400-78655800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:78640800-78697800	Weak transcription	Stomach Mucosa	stomach
16	chr4:78641000-78665000	Weak transcription	Fetal Brain Male	brain
17	chr4:78643800-78714000	Weak transcription	Lung	lung
18	chr4:78644800-78666600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:78645000-78664000	Weak transcription	A549	lung
20	chr4:78645000-78676600	Weak transcription	Hela-S3	cervix
21	chr4:78645400-78696200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:78645600-78663200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:78645800-78656400	Weak transcription	Fetal Intestine Small	intestine
24	chr4:78645800-78658800	Weak transcription	Fetal Stomach	stomach
25	chr4:78646000-78664000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:78646200-78655600	Weak transcription	Fetal Intestine Large	intestine
27	chr4:78646200-78663800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:78646800-78677200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:78649800-78660800	Weak transcription	HSMM	muscle
30	chr4:78650000-78659200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:78650000-78660200	Weak transcription	Brain Anterior Caudate	brain
32	chr4:78650000-78663200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:78650000-78682400	Weak transcription	Brain Substantia Nigra	brain
34	chr4:78650000-78683800	Weak transcription	NHDF-Ad	bronchial
35	chr4:78650200-78656000	Weak transcription	K562	blood
36	chr4:78650200-78656200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:78650200-78659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:78650200-78659000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr4:78650200-78659200	Weak transcription	Brain Hippocampus Middle	brain
40	chr4:78650200-78660400	Weak transcription	HMEC	breast
41	chr4:78650200-78661200	Weak transcription	Aorta	Aorta
42	chr4:78650200-78661200	Weak transcription	Colon Smooth Muscle	Colon
43	chr4:78650200-78661200	Weak transcription	Left Ventricle	heart
44	chr4:78650200-78661200	Weak transcription	Ovary	ovary
45	chr4:78650200-78661200	Weak transcription	Pancreas	Pancrea
46	chr4:78650200-78661800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr4:78650200-78662600	Weak transcription	Right Ventricle	heart
48	chr4:78650200-78663800	Weak transcription	Fetal Brain Female	brain
49	chr4:78650200-78673000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:78650200-78673000	Weak transcription	Fetal Muscle Trunk	muscle

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