Variant report

Variant	rs9371502
Chromosome Location	chr6:150183603-150183604
allele	G/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	MAFK	chr6:150183565-150183688	K562	blood:	n/a	chr6:150183651-150183666
3	MAFF	chr6:150183473-150183749	K562	blood:	n/a	chr6:150183650-150183668
4	CHD1	chr6:150181747-150185902	IMR90	lung:	n/a	chr6:150185305-150185315
5	POLR2A	chr6:150183401-150183618	Hela-S3	cervix:	n/a	n/a
6	MAFK	chr6:150183466-150183814	HepG2	liver:	n/a	chr6:150183651-150183666
7	POLR2A	chr6:150181143-150183681	HepG2	liver:	n/a	n/a
8	MAFK	chr6:150183514-150183720	Hela-S3	cervix:	n/a	chr6:150183651-150183666
9	MAFK	chr6:150182648-150183826	IMR90	lung:	n/a	chr6:150183213-150183224 chr6:150183651-150183666
10	MAFF	chr6:150183496-150183768	HepG2	liver:	n/a	chr6:150183650-150183668
11	POLR2A	chr6:150181811-150186475	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr6:150183248-150183653	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr6:150180156-150183754	HepG2	liver:	n/a	n/a
14	MAFK	chr6:150183488-150183796	HepG2	liver:	n/a	chr6:150183651-150183666
15	POLR2A	chr6:150183393-150183644	HCT-116	colon:	n/a	n/a
16	RCOR1	chr6:150183398-150183672	Hela-S3	cervix:	n/a	n/a

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	chr6:150036146..150038991-chr6:150182749..150185016,3	K562	blood:

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

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10457853	0.81[AMR][1000 genomes]
rs2342773	0.81[AMR][1000 genomes]
rs4142628	0.81[AMR][1000 genomes]
rs6557137	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6910351	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72997594	0.81[AMR][1000 genomes]
rs9322226	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9322227	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9371216	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9371523	0.81[EUR][1000 genomes]
rs9371539	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9383569	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9383573	0.85[AMR][1000 genomes]
rs9383583	0.81[EUR][1000 genomes]
rs9383862	0.81[ASN][1000 genomes]
rs9383916	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9383943	0.81[AMR][1000 genomes]
rs9397049	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9397053	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9397056	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9397057	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9397060	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9397387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9397394	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9397399	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9397419	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9397447	0.81[AMR][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	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
4	nsv823860	chr6:150183482-150186226	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr6:150173000-150184200	Weak transcription	Aorta	Aorta
2	chr6:150178600-150184000	Weak transcription	Psoas Muscle	Psoas
3	chr6:150180600-150184200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:150181200-150183800	Enhancers	Fetal Muscle Leg	muscle
5	chr6:150181200-150183800	Enhancers	Placenta	Placenta
6	chr6:150181200-150183800	Enhancers	Pancreas	Pancrea
7	chr6:150181200-150183800	Flanking Active TSS	Hela-S3	cervix
8	chr6:150181200-150184000	Enhancers	Liver	Liver
9	chr6:150181800-150183800	Enhancers	Adipose Nuclei	Adipose
10	chr6:150181800-150183800	Enhancers	Brain Germinal Matrix	brain
11	chr6:150182000-150184000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr6:150182000-150184000	Enhancers	Left Ventricle	heart
13	chr6:150182000-150184000	Enhancers	Stomach Mucosa	stomach
14	chr6:150182000-150186200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:150182200-150184200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:150182200-150184200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:150182400-150183800	Flanking Active TSS	Osteobl	bone
18	chr6:150182400-150184200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:150182600-150183800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:150182600-150183800	Enhancers	Fetal Muscle Trunk	muscle
21	chr6:150182600-150184000	Enhancers	Dnd41	blood
22	chr6:150182800-150183800	Flanking Active TSS	HepG2	liver
23	chr6:150183000-150183800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:150183000-150184000	Enhancers	Brain Substantia Nigra	brain
25	chr6:150183000-150184000	Enhancers	Fetal Brain Male	brain
26	chr6:150183000-150184000	Enhancers	Fetal Kidney	kidney
27	chr6:150183200-150183800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr6:150183200-150183800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:150183200-150183800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr6:150183200-150183800	Enhancers	Colonic Mucosa	Colon
31	chr6:150183200-150183800	Enhancers	Ovary	ovary
32	chr6:150183200-150183800	Enhancers	Right Atrium	heart
33	chr6:150183200-150183800	Flanking Active TSS	NHDF-Ad	bronchial
34	chr6:150183200-150184000	Enhancers	Fetal Heart	heart
35	chr6:150183200-150184000	Enhancers	Fetal Intestine Large	intestine
36	chr6:150183200-150184000	Enhancers	Fetal Intestine Small	intestine
37	chr6:150183200-150184000	Enhancers	Fetal Lung	lung
38	chr6:150183200-150184000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr6:150183200-150184200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr6:150183400-150183800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:150183400-150183800	Flanking Active TSS	Fetal Brain Female	brain
42	chr6:150183400-150183800	Weak transcription	Right Ventricle	heart
43	chr6:150183400-150183800	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr6:150183400-150183800	Flanking Active TSS	HMEC	breast
45	chr6:150183400-150183800	Flanking Active TSS	NHEK	skin
46	chr6:150183400-150184000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr6:150183400-150184000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:150183400-150184000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:150183400-150184000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr6:150183400-150184000	Enhancers	Brain Hippocampus Middle	brain

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