Variant report

Variant	rs768874
Chromosome Location	chr6:144295534-144295535
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144287837..144290224-chr6:144294547..144296456,2	K562	blood:

Variant related genes	Relation type
ENSG00000118495	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1884402	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2092895	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570598	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs6900923	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916498	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928827	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7752440	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321955	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9373410	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9376801	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9484836	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496829	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144269800-144296000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:144269800-144304400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:144271400-144296800	Weak transcription	Primary B cells from cord blood	blood
4	chr6:144284800-144318400	Weak transcription	Aorta	Aorta
5	chr6:144287000-144298800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:144287600-144297600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:144288400-144314800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:144289000-144301800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:144290000-144296200	Weak transcription	NHLF	lung
10	chr6:144290200-144296000	Enhancers	Fetal Kidney	kidney
11	chr6:144292400-144301200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:144292600-144298000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:144293200-144295600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:144293600-144309800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:144294000-144297800	Enhancers	K562	blood
16	chr6:144294600-144295600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:144294600-144296000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:144294800-144295600	Enhancers	HepG2	liver
19	chr6:144294800-144296200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr6:144294800-144297600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:144294800-144302600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr6:144294800-144312200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:144294800-144313600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:144294800-144315600	Weak transcription	NHDF-Ad	bronchial
25	chr6:144295000-144295600	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:144295000-144295800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:144295000-144295800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:144295000-144296400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
29	chr6:144295000-144296800	Weak transcription	Fetal Lung	lung
30	chr6:144295000-144297400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr6:144295000-144297600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
32	chr6:144295000-144298000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr6:144295000-144300000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:144295000-144304600	Weak transcription	Fetal Stomach	stomach
35	chr6:144295000-144312600	Weak transcription	Fetal Intestine Small	intestine
36	chr6:144295200-144296000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
37	chr6:144295200-144297600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
38	chr6:144295400-144295600	Enhancers	Placenta	Placenta
39	chr6:144295400-144295600	Enhancers	Ovary	ovary
40	chr6:144295400-144295800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:144295400-144296000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
42	chr6:144295400-144296000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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