Variant report

Variant	rs9782878
Chromosome Location	chr1:94044962-94044963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94040561..94042270-chr1:94043960..94045588,2	MCF-7	breast:
2	chr1:94037767..94040487-chr1:94043480..94046284,2	K562	blood:
3	chr1:93913686..93915312-chr1:94043814..94045583,2	MCF-7	breast:
4	chr1:94043354..94045487-chr1:94047410..94050029,2	K562	blood:

Variant related genes	Relation type
ENSG00000137942	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12094668	1.00[EUR][1000 genomes]
rs236341	1.00[ASN][1000 genomes]
rs236342	1.00[ASN][1000 genomes]
rs55936005	1.00[EUR][1000 genomes]
rs57418286	1.00[EUR][1000 genomes]
rs60514624	1.00[EUR][1000 genomes]
rs6681200	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101611	1.00[EUR][1000 genomes]
rs74101616	1.00[EUR][1000 genomes]
rs74101617	1.00[EUR][1000 genomes]
rs74101657	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93995000-94045000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:94020800-94050600	Weak transcription	Fetal Thymus	thymus
3	chr1:94025400-94049400	Strong transcription	Hela-S3	cervix
4	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
5	chr1:94030200-94046400	Strong transcription	Primary B cells from peripheral blood	blood
6	chr1:94031200-94047800	Weak transcription	GM12878-XiMat	blood
7	chr1:94031800-94052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:94032000-94053600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:94032200-94045200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:94033000-94050000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
11	chr1:94033400-94045000	Strong transcription	NHLF	lung
12	chr1:94033400-94045000	Strong transcription	Osteobl	bone
13	chr1:94035200-94045200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:94036400-94048600	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:94038400-94047800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:94038400-94054000	Weak transcription	Brain Substantia Nigra	brain
17	chr1:94038400-94054800	Weak transcription	Brain Angular Gyrus	brain
18	chr1:94038600-94051800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:94038600-94054200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:94040000-94045600	Genic enhancers	Fetal Muscle Leg	muscle
21	chr1:94040000-94045800	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr1:94040000-94055000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:94040400-94046000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:94040400-94046000	Genic enhancers	Placenta	Placenta
25	chr1:94040800-94047400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:94041000-94045000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:94041000-94045800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:94041000-94049400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:94041200-94046000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:94041200-94046200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:94041200-94048800	Genic enhancers	HMEC	breast
32	chr1:94041400-94046600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:94041600-94045000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:94041600-94045400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:94041800-94045400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:94041800-94047000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:94041800-94047600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:94041800-94047800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:94041800-94059400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:94042000-94045000	Enhancers	Stomach Mucosa	stomach
41	chr1:94042000-94054800	Weak transcription	Primary B cells from cord blood	blood
42	chr1:94042200-94045000	Weak transcription	Ovary	ovary
43	chr1:94042200-94045000	Strong transcription	NH-A	brain
44	chr1:94042200-94045800	Enhancers	Left Ventricle	heart
45	chr1:94042200-94048600	Enhancers	Pancreas	Pancrea
46	chr1:94042200-94063200	Weak transcription	Brain Germinal Matrix	brain
47	chr1:94042400-94047400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:94042600-94045200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:94042600-94045400	Weak transcription	Brain Anterior Caudate	brain
50	chr1:94042600-94045400	Weak transcription	Fetal Lung	lung

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