Variant report

Variant	rs1992669
Chromosome Location	chr8:123797936-123797937
allele	A/G
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	chr8:123797074-123798048	HepG2	liver:	n/a	n/a
2	CTCF	chr8:123797900-123798050	GM12873	blood:	n/a	n/a
3	FOSL2	chr8:123797774-123799146	MCF-7	breast:	n/a	chr8:123798353-123798363 chr8:123798354-123798362 chr8:123798419-123798433
4	POLR2A	chr8:123797771-123798342	HepG2	liver:	n/a	n/a
5	NR2F2	chr8:123797892-123798937	MCF-7	breast:	n/a	chr8:123798469-123798484
6	POLR2A	chr8:123797731-123798298	GM12878	blood:	n/a	n/a
7	GATA3	chr8:123797641-123799207	MCF-7	breast:	n/a	chr8:123798357-123798364
8	FOXM1	chr8:123797761-123799108	MCF-7	breast:	n/a	n/a
9	POLR2A	chr8:123797776-123798834	HepG2	liver:	n/a	n/a
10	HDAC2	chr8:123797700-123799180	MCF-7	breast:	n/a	chr8:123797710-123797724 chr8:123797706-123797720
11	PML	chr8:123797866-123798789	MCF-7	breast:	n/a	n/a
12	MAX	chr8:123797759-123798769	MCF-7	breast:	n/a	chr8:123798142-123798149 chr8:123798138-123798151 chr8:123798139-123798150 chr8:123798141-123798150 chr8:123798138-123798151 chr8:123798140-123798149
13	SIN3AK20	chr8:123797515-123799383	MCF-7	breast:	n/a	n/a
14	EP300	chr8:123797721-123799577	MCF-7	breast:	n/a	chr8:123799518-123799532 chr8:123798895-123798909 chr8:123798642-123798656 chr8:123799058-123799065
15	POLR2A	chr8:123797732-123798546	HepG2	liver:	n/a	n/a
16	EP300	chr8:123797919-123798556	T-47D	breast:	n/a	n/a
17	NR2F2	chr8:123797183-123799391	MCF-7	breast:	n/a	chr8:123798469-123798484
18	JUND	chr8:123797699-123798985	MCF-7	breast:	n/a	chr8:123798353-123798363 chr8:123798354-123798362 chr8:123798419-123798433
19	SIN3AK20	chr8:123797824-123799003	MCF-7	breast:	n/a	n/a
20	MAX	chr8:123797241-123799315	MCF-7	breast:	n/a	chr8:123798142-123798149 chr8:123798138-123798151 chr8:123798139-123798150 chr8:123798141-123798150 chr8:123798138-123798151 chr8:123798140-123798149 chr8:123798897-123798906
21	GATA3	chr8:123797848-123798874	MCF-7	breast:	n/a	chr8:123798357-123798364
22	HDAC2	chr8:123797835-123798845	MCF-7	breast:	n/a	n/a
23	POLR2A	chr8:123797793-123797942	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:123796181..123798096-chr8:123938144..123940566,2	MCF-7	breast:
2	chr8:123797826..123798776-chr8:123858093..123859021,4	MCF-7	breast:
3	chr8:123797870..123799960-chr8:123852944..123854762,3	MCF-7	breast:
4	chr8:123797238..123800114-chr8:123824670..123826658,2	MCF-7	breast:
5	chr8:123797209..123800237-chr8:123816788..123819479,4	MCF-7	breast:
6	chr8:123790213..123798071-chr8:123857056..123862100,10	MCF-7	breast:
7	chr8:123795951..123799423-chr8:123827814..123830980,4	MCF-7	breast:
8	chr8:123796489..123798118-chr8:124177230..124179906,2	MCF-7	breast:
9	chr8:123795996..123797941-chr8:123895622..123897590,2	MCF-7	breast:
10	chr8:123797826..123798746-chr8:123858093..123859027,5	MCF-7	breast:
11	chr8:123795206..123798202-chr8:123948089..123950096,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272384	TF binding region
ENSG00000221542	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10505426	1.00[EUR][1000 genomes]
rs11990273	1.00[EUR][1000 genomes]
rs16897554	1.00[EUR][1000 genomes]
rs16897576	1.00[EUR][1000 genomes]
rs60296517	1.00[EUR][1000 genomes]
rs6988421	1.00[EUR][1000 genomes]
rs6993388	1.00[EUR][1000 genomes]
rs7008874	1.00[EUR][1000 genomes]
rs73331728	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331733	1.00[EUR][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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:123795200-123806600	Weak transcription	Small Intestine	intestine
2	chr8:123795400-123799000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:123795400-123807400	Weak transcription	Stomach Mucosa	stomach
4	chr8:123795400-123809600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:123795600-123798000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:123795600-123798000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:123795600-123798000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:123795600-123798400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:123795600-123798400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:123795600-123799400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:123795600-123800800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:123795600-123800800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:123795600-123801000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:123795600-123801000	Weak transcription	Ovary	ovary
15	chr8:123795600-123807200	Weak transcription	Right Atrium	heart
16	chr8:123795600-123810600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:123795800-123798000	Genic enhancers	Primary B cells from peripheral blood	blood
18	chr8:123795800-123798000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:123795800-123798200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:123795800-123798400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:123795800-123798400	Strong transcription	Fetal Intestine Large	intestine
22	chr8:123795800-123799200	Weak transcription	NHDF-Ad	bronchial
23	chr8:123795800-123799400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:123795800-123799800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:123795800-123799800	Weak transcription	Fetal Brain Male	brain
26	chr8:123795800-123800600	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr8:123795800-123800800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:123795800-123801200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:123795800-123801200	Weak transcription	HMEC	breast
30	chr8:123795800-123801800	Enhancers	Brain Substantia Nigra	brain
31	chr8:123795800-123805200	Weak transcription	Psoas Muscle	Psoas
32	chr8:123795800-123810200	Weak transcription	NHEK	skin
33	chr8:123795800-123810400	Weak transcription	HSMM	muscle
34	chr8:123795800-123810600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:123795800-123811400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:123796000-123798600	Genic enhancers	Primary B cells from cord blood	blood
37	chr8:123796000-123799000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr8:123796000-123799200	Genic enhancers	Brain Anterior Caudate	brain
39	chr8:123796000-123799600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:123796000-123800600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
41	chr8:123796000-123800800	Weak transcription	Fetal Brain Female	brain
42	chr8:123796000-123801000	Weak transcription	NHLF	lung
43	chr8:123796000-123801800	Weak transcription	Colon Smooth Muscle	Colon
44	chr8:123796200-123798000	Strong transcription	Fetal Thymus	thymus
45	chr8:123796200-123798200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
46	chr8:123796200-123798200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr8:123796200-123798400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:123796200-123798600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:123796200-123798600	Strong transcription	Fetal Muscle Leg	muscle
50	chr8:123796200-123799200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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