Variant report

Variant	rs12624468
Chromosome Location	chr20:11434441-11434442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11906138	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12480554	0.84[EUR][1000 genomes]
rs12625750	0.91[ASN][1000 genomes]
rs59126461	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7262680	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73079865	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73081803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73247751	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs742825	0.97[ASN][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	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv432099	chr20:11371093-11476900	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1058734	chr20:11389232-11479953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv522929	chr20:11411026-11516418	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11432200-11434600	Enhancers	HMEC	breast
2	chr20:11432200-11435200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:11432200-11435600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr20:11432200-11435600	Enhancers	HSMM	muscle
5	chr20:11432200-11435600	Enhancers	NHEK	skin
6	chr20:11432200-11437000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr20:11432200-11437200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr20:11432200-11438800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr20:11432400-11434800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr20:11432400-11435200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr20:11432400-11435800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr20:11432400-11435800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr20:11432400-11436400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr20:11432400-11437000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr20:11432400-11437000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr20:11432400-11437200	Enhancers	Fetal Intestine Small	intestine
17	chr20:11432600-11435000	Enhancers	Esophagus	oesophagus
18	chr20:11432600-11435800	Enhancers	Hela-S3	cervix
19	chr20:11432600-11436800	Enhancers	Osteobl	bone
20	chr20:11432800-11434600	Weak transcription	Fetal Intestine Large	intestine
21	chr20:11432800-11435600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr20:11433000-11435400	Enhancers	HUVEC	blood vessel
23	chr20:11433200-11434600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr20:11433200-11435800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr20:11433200-11435800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr20:11433200-11435800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr20:11433400-11434800	Weak transcription	Psoas Muscle	Psoas
28	chr20:11433400-11435400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr20:11433400-11435600	Weak transcription	HSMMtube	muscle
30	chr20:11433400-11435600	Enhancers	NH-A	brain
31	chr20:11433800-11434800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr20:11433800-11434800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr20:11433800-11435000	Enhancers	NHLF	lung
34	chr20:11433800-11435400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr20:11433800-11435600	Weak transcription	Colon Smooth Muscle	Colon
36	chr20:11433800-11440000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr20:11434000-11434800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr20:11434000-11435600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr20:11434000-11435800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr20:11434000-11436000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr20:11434000-11436200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr20:11434000-11436800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr20:11434000-11436800	Weak transcription	Right Atrium	heart
44	chr20:11434000-11437000	Weak transcription	Fetal Muscle Leg	muscle
45	chr20:11434200-11435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr20:11434200-11435600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr20:11434200-11435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr20:11434200-11435600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr20:11434200-11436400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr20:11434200-11438200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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