Variant report

Variant	rs73780563
Chromosome Location	chr6:144737976-144737977
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	chr6:144722706..144724296-chr6:144737835..144739711,2	K562	blood:
2	chr6:144730522..144732080-chr6:144737085..144739296,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1139836	1.00[AMR][1000 genomes]
rs55751309	1.00[AMR][1000 genomes]
rs56396941	0.93[AFR][1000 genomes]
rs58152229	1.00[AMR][1000 genomes]
rs58683489	1.00[AMR][1000 genomes]
rs60717992	0.93[AFR][1000 genomes]
rs60953385	1.00[AMR][1000 genomes]
rs73780556	0.83[AFR][1000 genomes]
rs73780560	0.93[AFR][1000 genomes]
rs73780562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73780564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73780570	1.00[AMR][1000 genomes]
rs73780576	1.00[AMR][1000 genomes]
rs73780579	1.00[AMR][1000 genomes]
rs73780587	1.00[AMR][1000 genomes]
rs73780589	1.00[AMR][1000 genomes]
rs73780590	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	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1023014	chr6:144717963-144806691	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv886739	chr6:144719765-144796516	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144719600-144744000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:144719800-144743000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:144719800-144744400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:144720000-144743200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr6:144720000-144758200	Weak transcription	Fetal Intestine Small	intestine
6	chr6:144720200-144744000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:144722400-144744000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:144723200-144743000	Weak transcription	Liver	Liver
9	chr6:144726800-144745200	Weak transcription	Fetal Stomach	stomach
10	chr6:144727000-144743000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr6:144727400-144743000	Weak transcription	Dnd41	blood
12	chr6:144728200-144744400	Weak transcription	Esophagus	oesophagus
13	chr6:144728400-144740000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:144728600-144743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:144729600-144743000	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:144729600-144744000	Weak transcription	Ovary	ovary
17	chr6:144729600-144744400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:144729800-144761400	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:144731200-144738400	Weak transcription	Small Intestine	intestine
20	chr6:144733000-144739800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr6:144733000-144742800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:144733000-144743000	Weak transcription	GM12878-XiMat	blood
23	chr6:144733000-144744000	Weak transcription	Gastric	stomach
24	chr6:144733200-144740000	Weak transcription	Primary T cells from cord blood	blood
25	chr6:144733200-144743000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:144733200-144743000	Weak transcription	Fetal Thymus	thymus
27	chr6:144733200-144744000	Weak transcription	Fetal Lung	lung
28	chr6:144733200-144744000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr6:144733200-144744000	Weak transcription	Thymus	Thymus
30	chr6:144733200-144756800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr6:144733400-144740000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:144733400-144740200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:144733400-144744000	Weak transcription	Fetal Kidney	kidney
34	chr6:144734600-144740200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:144734600-144744000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:144735000-144740200	Weak transcription	Primary B cells from cord blood	blood
37	chr6:144735800-144738200	Enhancers	HepG2	liver
38	chr6:144735800-144739200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:144736000-144738400	Enhancers	Fetal Heart	heart
40	chr6:144736000-144739200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:144736000-144739200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:144736200-144738000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr6:144736200-144738000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:144736200-144738000	Enhancers	NHEK	skin
45	chr6:144736200-144738600	Enhancers	Adipose Nuclei	Adipose
46	chr6:144736200-144739000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:144736200-144739000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr6:144736200-144739200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr6:144736200-144739200	Enhancers	HUVEC	blood vessel
50	chr6:144736200-144741600	Enhancers	Primary T helper cells PMA-I stimulated	--

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