Variant report

Variant	rs73779598
Chromosome Location	chr6:150183161-150183162
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:150181876-150186422	IMR90	lung:	n/a	n/a
2	CEBPB	chr6:150181851-150183198	HepG2	liver:	n/a	chr6:150182705-150182716
3	POLR2A	chr6:150182638-150183256	Hela-S3	cervix:	n/a	n/a
4	CHD1	chr6:150181747-150185902	IMR90	lung:	n/a	chr6:150185305-150185315
5	MAZ	chr6:150183035-150183285	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:150181143-150183681	HepG2	liver:	n/a	n/a
7	MAFK	chr6:150182648-150183826	IMR90	lung:	n/a	chr6:150183213-150183224 chr6:150183651-150183666
8	CEBPB	chr6:150182485-150183266	IMR90	lung:	n/a	chr6:150182705-150182716
9	POLR2A	chr6:150181811-150186475	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr6:150183122-150183342	A549	lung:	n/a	n/a
11	POLR2A	chr6:150180156-150183754	HepG2	liver:	n/a	n/a
12	TCF7L2	chr6:150183147-150183571	PANC-1	pancreas:	n/a	chr6:150183297-150183306 chr6:150183294-150183310 chr6:150183294-150183310

No.	Distal block	Cell Line	Cell type
1	chr6:150183161..150188305-chr6:150206346..150214162,9	MCF-7	breast:
2	chr6:150037075..150038991-chr6:150181496..150184249,2	K562	blood:
3	chr6:150181490..150187274-chr6:150243970..150248410,8	MCF-7	breast:
4	chr6:150155308..150156178-chr6:150182507..150183228,2	MCF-7	breast:
5	chr6:150036146..150038991-chr6:150182749..150185016,3	K562	blood:
6	chr6:150180705..150183477-chr6:150200209..150201991,2	K562	blood:

Variant related genes	Relation type
ENSG00000268592	TF binding region
ENSG00000217733	Chromatin interaction
ENSG00000203722	Chromatin interaction
ENSG00000164520	Chromatin interaction
ENSG00000131023	Chromatin interaction
ENSG00000223701	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73779587	0.82[AFR][1000 genomes]
rs73779595	0.82[AFR][1000 genomes]
rs73782103	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9383881	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3437961	chr6:150182459-150187257	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150168800-150183400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:150169400-150183200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:150173000-150184200	Weak transcription	Aorta	Aorta
4	chr6:150173200-150183200	Weak transcription	Ovary	ovary
5	chr6:150176200-150183200	Weak transcription	Fetal Intestine Large	intestine
6	chr6:150176600-150183200	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:150176600-150183400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:150176800-150183400	Weak transcription	HSMMtube	muscle
9	chr6:150177600-150183200	Weak transcription	Fetal Lung	lung
10	chr6:150178000-150183200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:150178000-150183200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:150178600-150184000	Weak transcription	Psoas Muscle	Psoas
13	chr6:150178800-150183400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:150179000-150183200	Weak transcription	HSMM	muscle
15	chr6:150179600-150183200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:150180200-150183400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:150180600-150183200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:150180600-150183600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:150180600-150183600	Enhancers	Gastric	stomach
20	chr6:150180600-150184200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:150180800-150183200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr6:150181200-150183600	Enhancers	Esophagus	oesophagus
23	chr6:150181200-150183800	Enhancers	Fetal Muscle Leg	muscle
24	chr6:150181200-150183800	Enhancers	Placenta	Placenta
25	chr6:150181200-150183800	Enhancers	Pancreas	Pancrea
26	chr6:150181200-150183800	Flanking Active TSS	Hela-S3	cervix
27	chr6:150181200-150184000	Enhancers	Liver	Liver
28	chr6:150181400-150183400	Enhancers	HMEC	breast
29	chr6:150181600-150183200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:150181600-150183400	Strong transcription	Fetal Stomach	stomach
31	chr6:150181800-150183200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
32	chr6:150181800-150183200	Enhancers	Brain Hippocampus Middle	brain
33	chr6:150181800-150183800	Enhancers	Adipose Nuclei	Adipose
34	chr6:150181800-150183800	Enhancers	Brain Germinal Matrix	brain
35	chr6:150182000-150183200	Enhancers	NHDF-Ad	bronchial
36	chr6:150182000-150183200	Genic enhancers	NHLF	lung
37	chr6:150182000-150183400	Enhancers	Lung	lung
38	chr6:150182000-150183400	Enhancers	NH-A	brain
39	chr6:150182000-150184000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr6:150182000-150184000	Enhancers	Left Ventricle	heart
41	chr6:150182000-150184000	Enhancers	Stomach Mucosa	stomach
42	chr6:150182000-150186200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr6:150182200-150183200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:150182200-150183200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:150182200-150183200	Weak transcription	Right Atrium	heart
46	chr6:150182200-150183400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:150182200-150183400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:150182200-150183600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
49	chr6:150182200-150184200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:150182200-150184200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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