Variant report

Variant	rs72864981
Chromosome Location	chr4:78698947-78698948
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	chr4:78697576..78699184-chr4:78739926..78741845,2	MCF-7	breast:
2	chr4:78698610..78700258-chr4:78704577..78706210,2	K562	blood:

Variant related genes	Relation type
ENSG00000138767	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs57475713	1.00[AFR][1000 genomes]
rs59140464	1.00[AFR][1000 genomes]
rs59434555	1.00[AFR][1000 genomes]
rs59926102	1.00[AFR][1000 genomes]
rs60243365	1.00[AFR][1000 genomes]
rs72868204	1.00[AFR][1000 genomes]
rs72869523	1.00[AFR][1000 genomes]
rs72869526	1.00[AFR][1000 genomes]
rs72869551	1.00[AFR][1000 genomes]
rs72869567	1.00[AFR][1000 genomes]
rs72869576	1.00[AFR][1000 genomes]
rs72869581	1.00[AFR][1000 genomes]
rs72869595	1.00[AFR][1000 genomes]
rs72869597	1.00[AFR][1000 genomes]
rs72871103	1.00[AFR][1000 genomes]
rs72871112	1.00[AFR][1000 genomes]
rs72871117	1.00[AFR][1000 genomes]
rs72871118	1.00[AFR][1000 genomes]
rs72871124	1.00[AFR][1000 genomes]
rs72871133	1.00[AFR][1000 genomes]
rs72871136	1.00[AFR][1000 genomes]
rs72871138	1.00[AFR][1000 genomes]
rs72871155	1.00[AFR][1000 genomes]
rs72871157	1.00[AFR][1000 genomes]
rs72871162	1.00[AFR][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	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	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
3	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
4	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr4:78643800-78714000	Weak transcription	Lung	lung
2	chr4:78650200-78702800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:78650200-78720000	Weak transcription	Spleen	Spleen
4	chr4:78691800-78703000	Weak transcription	A549	lung
5	chr4:78693400-78704400	Weak transcription	HUVEC	blood vessel
6	chr4:78694200-78722000	Weak transcription	Fetal Stomach	stomach
7	chr4:78696400-78717600	Weak transcription	Thymus	Thymus
8	chr4:78697000-78699000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:78697200-78716400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:78697400-78699200	Enhancers	Fetal Heart	heart
11	chr4:78697400-78721400	Weak transcription	Placenta	Placenta
12	chr4:78697600-78699000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:78697600-78699000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:78697600-78699800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr4:78697600-78709200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr4:78697800-78699000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr4:78697800-78699000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:78697800-78699000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:78697800-78699000	Enhancers	Colon Smooth Muscle	Colon
20	chr4:78697800-78699800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:78697800-78699800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr4:78697800-78700200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:78698000-78699400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:78698000-78714000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:78698000-78714600	Weak transcription	Fetal Thymus	thymus
26	chr4:78698000-78716400	Weak transcription	Primary B cells from cord blood	blood
27	chr4:78698200-78699400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr4:78698200-78699400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:78698200-78700000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr4:78698200-78702200	Weak transcription	Pancreas	Pancrea
31	chr4:78698200-78703400	Weak transcription	Psoas Muscle	Psoas
32	chr4:78698200-78706000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr4:78698400-78699200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:78698400-78699200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:78698400-78699600	Enhancers	Primary T cells from cord blood	blood
36	chr4:78698400-78704600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr4:78698600-78699200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr4:78698600-78699200	Enhancers	Duodenum Mucosa	Duodenum
39	chr4:78698600-78699400	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr4:78698600-78699600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr4:78698600-78699600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr4:78698600-78702000	Weak transcription	HepG2	liver
43	chr4:78698600-78703000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:78698600-78703400	Weak transcription	Small Intestine	intestine
45	chr4:78698600-78704400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:78698600-78704600	Weak transcription	Fetal Lung	lung
47	chr4:78698600-78707000	Weak transcription	Gastric	stomach
48	chr4:78698600-78710600	Weak transcription	Left Ventricle	heart
49	chr4:78698600-78710600	Weak transcription	Ovary	ovary
50	chr4:78698600-78710800	Weak transcription	Adipose Nuclei	Adipose

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