Variant report

Variant	rs4245501
Chromosome Location	chr6:119259674-119259675
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	chr6:119257082..119259694-chr6:119259960..119261722,2	K562	blood:
2	chr6:119255269..119257410-chr6:119258085..119262508,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253194	Chromatin interaction
ENSG00000111877	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1087451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1087452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529321	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13209700	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13214708	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1321837	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13219598	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1407204	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17827619	0.97[ASN][1000 genomes]
rs2145568	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34455711	0.97[ASN][1000 genomes]
rs35375291	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35795136	0.91[ASN][1000 genomes]
rs3822955	0.97[ASN][1000 genomes]
rs4946368	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61108921	0.83[ASN][1000 genomes]
rs6915609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915914	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71559845	0.91[ASN][1000 genomes]
rs7743694	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7746114	0.94[ASN][1000 genomes]
rs7766260	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs794602	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs794609	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794610	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794612	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs794613	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs794615	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs927288	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9372516	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9374758	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9385064	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv16596	chr6:119251007-119272087	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv437523	chr6:119251971-119260280	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119256600-119260800	Weak transcription	Esophagus	oesophagus
2	chr6:119256600-119260800	Weak transcription	Left Ventricle	heart
3	chr6:119256600-119261800	Weak transcription	Gastric	stomach
4	chr6:119256600-119262000	Weak transcription	Pancreas	Pancrea
5	chr6:119256800-119260800	Weak transcription	Fetal Stomach	stomach
6	chr6:119256800-119260800	Weak transcription	Right Ventricle	heart
7	chr6:119256800-119261000	Weak transcription	Aorta	Aorta
8	chr6:119256800-119262000	Weak transcription	Thymus	Thymus
9	chr6:119257000-119260400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:119257000-119260400	Weak transcription	Fetal Lung	lung
11	chr6:119257000-119260800	Weak transcription	Fetal Intestine Small	intestine
12	chr6:119257000-119262400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:119257200-119260400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:119257200-119260600	Weak transcription	Liver	Liver
15	chr6:119257200-119261200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr6:119257400-119260000	Weak transcription	HSMM	muscle
17	chr6:119257400-119260600	Weak transcription	Adipose Nuclei	Adipose
18	chr6:119257400-119261000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:119257400-119262000	Weak transcription	Primary B cells from cord blood	blood
20	chr6:119257800-119260800	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:119257800-119261600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:119258000-119261600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:119258200-119261400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:119258400-119261600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr6:119258600-119260200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:119259000-119261000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:119259600-119262400	Strong transcription	Primary T cells from cord blood	blood

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