Variant report

Variant	rs6846823
Chromosome Location	chr4:6989436-6989437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6987851..6990703-chr4:7053695..7056080,2	MCF-7	breast:
2	chr4:6909306..6913096-chr4:6986692..6990153,8	K562	blood:
3	chr4:6716379..6718231-chr4:6987707..6990478,2	K562	blood:
4	chr4:6783058..6785294-chr4:6987568..6991326,3	MCF-7	breast:
5	chr4:6981814..6984780-chr4:6988944..6991170,2	MCF-7	breast:
6	chr4:6988801..6990522-chr4:7000909..7003794,2	MCF-7	breast:
7	chr4:6909371..6913138-chr4:6987040..6991863,16	MCF-7	breast:
8	chr4:6987653..6990708-chr4:7043238..7045970,4	MCF-7	breast:
9	chr4:6715191..6718231-chr4:6987509..6990478,3	K562	blood:
10	chr4:6909040..6912883-chr4:6987028..6993211,15	MCF-7	breast:
11	chr4:6989121..6990738-chr4:7030728..7033595,2	MCF-7	breast:
12	chr4:6988789..6991540-chr4:7069432..7071324,2	MCF-7	breast:
13	chr4:6909508..6912885-chr4:6987339..6990016,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000109519	Chromatin interaction
ENSG00000173013	Chromatin interaction
ENSG00000186222	Chromatin interaction
ENSG00000132405	Chromatin interaction
ENSG00000170871	Chromatin interaction
ENSG00000173011	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4234794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62289160	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62289165	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7665188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7673889	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6987000-6989800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:6987200-6989800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:6987600-6989800	Active TSS	Aorta	Aorta
4	chr4:6987600-6989800	Active TSS	Psoas Muscle	Psoas
5	chr4:6987600-6989800	Active TSS	Right Atrium	heart
6	chr4:6987600-6990000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr4:6987600-6990000	Active TSS	Right Ventricle	heart
8	chr4:6987800-6989600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:6987800-6989600	Active TSS	Gastric	stomach
10	chr4:6987800-6989800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr4:6987800-6990000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:6987800-6990000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:6987800-6990000	Active TSS	Ovary	ovary
14	chr4:6988000-6989600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:6988000-6989600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:6988000-6989600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:6988000-6989600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr4:6988000-6989600	Active TSS	Colon Smooth Muscle	Colon
19	chr4:6988000-6989600	Active TSS	Lung	lung
20	chr4:6988000-6989600	Active TSS	Stomach Smooth Muscle	stomach
21	chr4:6988000-6989800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:6988000-6989800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:6988000-6989800	Active TSS	Left Ventricle	heart
24	chr4:6988000-6990000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr4:6988000-6990000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:6988000-6990000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr4:6988000-6990200	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr4:6988000-6990400	Active TSS	A549	lung
29	chr4:6988200-6989600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:6988200-6989600	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr4:6988200-6989600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:6988200-6989600	Active TSS	Muscle Satellite Cultured Cells	--
33	chr4:6988200-6989600	Active TSS	Brain Hippocampus Middle	brain
34	chr4:6988200-6989600	Active TSS	Brain Substantia Nigra	brain
35	chr4:6988200-6989600	Active TSS	Fetal Heart	heart
36	chr4:6988200-6989600	Active TSS	Fetal Stomach	stomach
37	chr4:6988200-6989600	Active TSS	Small Intestine	intestine
38	chr4:6988200-6989600	Active TSS	Stomach Mucosa	stomach
39	chr4:6988200-6989600	Active TSS	Hela-S3	cervix
40	chr4:6988200-6989600	Active TSS	NHEK	skin
41	chr4:6988200-6989800	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr4:6988200-6989800	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr4:6988200-6989800	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr4:6988200-6989800	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr4:6988200-6989800	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr4:6988200-6989800	Active TSS	Fetal Brain Female	brain
47	chr4:6988200-6989800	Active TSS	Fetal Kidney	kidney
48	chr4:6988200-6990000	Active TSS	GM12878-XiMat	blood
49	chr4:6988200-6990000	Active TSS	NHDF-Ad	bronchial
50	chr4:6988200-6990200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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