Variant report

Variant	rs72963382
Chromosome Location	chr1:94079122-94079123
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	chr1:94076543..94079128-chr1:94244196..94245876,2	MCF-7	breast:
2	chr1:94048472..94052407-chr1:94077212..94082015,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10489541	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164954	1.00[EUR][1000 genomes]
rs11800247	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11802499	1.00[EUR][1000 genomes]
rs11805042	1.00[EUR][1000 genomes]
rs11806965	1.00[EUR][1000 genomes]
rs11809347	1.00[EUR][1000 genomes]
rs1593513	1.00[EUR][1000 genomes]
rs1593514	1.00[EUR][1000 genomes]
rs1593515	1.00[EUR][1000 genomes]
rs17110193	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17110312	1.00[EUR][1000 genomes]
rs17110320	1.00[EUR][1000 genomes]
rs2221923	1.00[EUR][1000 genomes]
rs236309	1.00[EUR][1000 genomes]
rs4475764	1.00[EUR][1000 genomes]
rs57453256	1.00[EUR][1000 genomes]
rs58024738	1.00[EUR][1000 genomes]
rs58591926	1.00[EUR][1000 genomes]
rs58679238	1.00[EUR][1000 genomes]
rs59653321	1.00[EUR][1000 genomes]
rs60188127	1.00[EUR][1000 genomes]
rs61372707	1.00[EUR][1000 genomes]
rs61658240	0.87[AMR][1000 genomes]
rs6541391	1.00[EUR][1000 genomes]
rs6541392	1.00[EUR][1000 genomes]
rs6657187	1.00[EUR][1000 genomes]
rs6661879	1.00[EUR][1000 genomes]
rs6671646	1.00[EUR][1000 genomes]
rs6686775	1.00[EUR][1000 genomes]
rs7525976	1.00[EUR][1000 genomes]
rs871855	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:94066400-94079200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:94066400-94079600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:94068200-94079200	Genic enhancers	HSMM	muscle
5	chr1:94070800-94079200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:94071600-94079400	Weak transcription	Small Intestine	intestine
7	chr1:94071800-94079200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:94071800-94079800	Weak transcription	Fetal Kidney	kidney
9	chr1:94072200-94079400	Weak transcription	Fetal Intestine Large	intestine
10	chr1:94073600-94079200	Genic enhancers	HMEC	breast
11	chr1:94074600-94079400	Weak transcription	Pancreas	Pancrea
12	chr1:94074800-94079200	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:94075000-94079200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:94075000-94079200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:94075200-94079400	Weak transcription	Esophagus	oesophagus
16	chr1:94075400-94079200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:94075400-94079800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:94075400-94080000	Weak transcription	Fetal Thymus	thymus
19	chr1:94075600-94079200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:94075600-94079600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:94075600-94079800	Weak transcription	Lung	lung
22	chr1:94075600-94080600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:94075800-94079200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:94075800-94079200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:94075800-94079200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:94075800-94079400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:94075800-94081400	Strong transcription	Hela-S3	cervix
28	chr1:94076000-94079200	Weak transcription	Placenta	Placenta
29	chr1:94076000-94079400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:94076000-94079400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:94076000-94080000	Strong transcription	NHEK	skin
32	chr1:94076000-94080800	Weak transcription	HUVEC	blood vessel
33	chr1:94076200-94079400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:94076200-94080600	Genic enhancers	A549	lung
35	chr1:94076800-94079600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:94077000-94079800	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr1:94077200-94079800	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr1:94077200-94099000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:94077400-94079200	Enhancers	Osteobl	bone
40	chr1:94077400-94079400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:94077600-94079200	Enhancers	Stomach Mucosa	stomach
42	chr1:94077600-94079800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr1:94077600-94081200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr1:94077600-94084200	Enhancers	Fetal Brain Male	brain
45	chr1:94077800-94080000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:94078000-94079400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:94078000-94079400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:94078000-94080200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:94078000-94081000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr1:94078000-94081000	Weak transcription	Spleen	Spleen

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