Variant report

Variant	rs74101616
Chromosome Location	chr1:94045479-94045480
allele	A/G
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	chr1:94040725..94043300-chr1:94045336..94048805,3	K562	blood:
5	chr1:94043354..94045487-chr1:94047410..94050029,2	K562	blood:

Variant related genes	Relation type
ENSG00000137942	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12094668	1.00[EUR][1000 genomes]
rs55936005	1.00[EUR][1000 genomes]
rs57418286	1.00[EUR][1000 genomes]
rs60514624	1.00[EUR][1000 genomes]
rs6681200	1.00[EUR][1000 genomes]
rs74101611	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101617	1.00[EUR][1000 genomes]
rs74101657	1.00[EUR][1000 genomes]
rs9782878	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	chr1:94020800-94050600	Weak transcription	Fetal Thymus	thymus
2	chr1:94025400-94049400	Strong transcription	Hela-S3	cervix
3	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
4	chr1:94030200-94046400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr1:94031200-94047800	Weak transcription	GM12878-XiMat	blood
6	chr1:94031800-94052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:94032000-94053600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:94033000-94050000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:94036400-94048600	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:94038400-94047800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:94038400-94054000	Weak transcription	Brain Substantia Nigra	brain
12	chr1:94038400-94054800	Weak transcription	Brain Angular Gyrus	brain
13	chr1:94038600-94051800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:94038600-94054200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:94040000-94045600	Genic enhancers	Fetal Muscle Leg	muscle
16	chr1:94040000-94045800	Genic enhancers	Fetal Muscle Trunk	muscle
17	chr1:94040000-94055000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:94040400-94046000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:94040400-94046000	Genic enhancers	Placenta	Placenta
20	chr1:94040800-94047400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:94041000-94045800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:94041000-94049400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:94041200-94046000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:94041200-94046200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:94041200-94048800	Genic enhancers	HMEC	breast
26	chr1:94041400-94046600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:94041800-94047000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:94041800-94047600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:94041800-94047800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:94041800-94059400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:94042000-94054800	Weak transcription	Primary B cells from cord blood	blood
32	chr1:94042200-94045800	Enhancers	Left Ventricle	heart
33	chr1:94042200-94048600	Enhancers	Pancreas	Pancrea
34	chr1:94042200-94063200	Weak transcription	Brain Germinal Matrix	brain
35	chr1:94042400-94047400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:94042800-94046000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr1:94042800-94047600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr1:94042800-94050600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:94042800-94053000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:94043000-94045600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:94043000-94058400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:94043200-94045800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:94043200-94047400	Weak transcription	Aorta	Aorta
44	chr1:94043200-94049800	Weak transcription	Fetal Kidney	kidney
45	chr1:94043200-94050400	Strong transcription	NHEK	skin
46	chr1:94043400-94045600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:94043400-94045600	Strong transcription	Spleen	Spleen
48	chr1:94043400-94045800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
49	chr1:94043400-94047800	Genic enhancers	Fetal Intestine Small	intestine
50	chr1:94043800-94047200	Genic enhancers	Muscle Satellite Cultured Cells	--

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