Variant report

Variant	rs72864947
Chromosome Location	chr4:78674437-78674438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78665271..78668242-chr4:78674089..78675600,2	MCF-7	breast:

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]
rs72864913	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78629200-78676600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:78632600-78697800	Weak transcription	Colonic Mucosa	Colon
3	chr4:78640800-78697800	Weak transcription	Stomach Mucosa	stomach
4	chr4:78643800-78714000	Weak transcription	Lung	lung
5	chr4:78645000-78676600	Weak transcription	Hela-S3	cervix
6	chr4:78645400-78696200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:78646800-78677200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:78650000-78682400	Weak transcription	Brain Substantia Nigra	brain
9	chr4:78650000-78683800	Weak transcription	NHDF-Ad	bronchial
10	chr4:78650200-78697800	Weak transcription	Gastric	stomach
11	chr4:78650200-78697800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:78650200-78702800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:78650200-78720000	Weak transcription	Spleen	Spleen
14	chr4:78650800-78697800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:78654200-78697600	Weak transcription	HSMMtube	muscle
16	chr4:78657000-78695600	Weak transcription	Small Intestine	intestine
17	chr4:78659000-78676600	Weak transcription	Fetal Stomach	stomach
18	chr4:78659800-78676000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:78659800-78685800	Weak transcription	Psoas Muscle	Psoas
20	chr4:78659800-78697800	Weak transcription	Esophagus	oesophagus
21	chr4:78662000-78695600	Weak transcription	Ovary	ovary
22	chr4:78662000-78697600	Weak transcription	Brain Angular Gyrus	brain
23	chr4:78662000-78697800	Weak transcription	Pancreas	Pancrea
24	chr4:78662200-78682400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:78662200-78697800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:78662600-78679800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:78662800-78676200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr4:78662800-78676800	Weak transcription	Placenta	Placenta
29	chr4:78662800-78677600	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:78662800-78683400	Weak transcription	Fetal Kidney	kidney
31	chr4:78662800-78683600	Weak transcription	K562	blood
32	chr4:78663400-78677200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:78663600-78676800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:78663600-78676800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:78663800-78676800	Weak transcription	HSMM	muscle
36	chr4:78663800-78677200	Weak transcription	HUVEC	blood vessel
37	chr4:78663800-78678200	Weak transcription	HMEC	breast
38	chr4:78663800-78695600	Weak transcription	Left Ventricle	heart
39	chr4:78664600-78676600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:78665200-78676000	Strong transcription	Dnd41	blood
41	chr4:78665200-78682200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr4:78667200-78682600	Weak transcription	HepG2	liver
43	chr4:78667400-78677200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:78670800-78674600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:78671000-78676000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:78672200-78676400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:78672400-78675000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr4:78672400-78676600	Weak transcription	Fetal Lung	lung
49	chr4:78673000-78675800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr4:78673000-78677200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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