Variant report

Variant	rs117952992
Chromosome Location	chr8:11724423-11724424
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	chr8:11724062-11724527	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr8:11724244-11724534	K562	blood:	n/a	n/a
3	POLR2A	chr8:11724372-11724593	HepG2	liver:	n/a	n/a
4	JUND	chr8:11723989-11724488	K562	blood:	n/a	chr8:11724117-11724126 chr8:11724066-11724076 chr8:11724066-11724076
5	MAX	chr8:11723933-11724429	K562	blood:	n/a	n/a
6	ELF1	chr8:11724287-11726193	GM12878	blood:	n/a	chr8:11725974-11725983 chr8:11724894-11724907 chr8:11724294-11724307
7	POLR2A	chr8:11723622-11725666	PBDE	blood:	n/a	n/a
8	POLR2A	chr8:11723723-11726721	HepG2	liver:	n/a	n/a
9	SMARCB1	chr8:11723731-11725527	Hela-S3	cervix:	n/a	chr8:11724117-11724126
10	CCNT2	chr8:11724104-11726088	K562	blood:	n/a	chr8:11726021-11726030
11	CHD1	chr8:11723365-11726352	IMR90	lung:	n/a	n/a
12	BHLHE40	chr8:11723577-11724531	K562	blood:	n/a	chr8:11724440-11724456
13	UBTF	chr8:11723853-11725745	K562	blood:	n/a	n/a
14	NR2F2	chr8:11723966-11724473	K562	blood:	n/a	n/a
15	POLR2A	chr8:11723577-11726448	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr8:11724386-11725833	Hela-S3	cervix:	n/a	n/a
17	RCOR1	chr8:11724216-11724702	K562	blood:	n/a	n/a
18	UBTF	chr8:11724219-11724425	K562	blood:	n/a	n/a
19	POLR2A	chr8:11724346-11725758	IMR90	lung:	n/a	n/a
20	POLR2A	chr8:11723707-11725173	K562	blood:	n/a	n/a
21	RFX5	chr8:11724414-11724436	HepG2	liver:	n/a	n/a
22	ZBTB7A	chr8:11724416-11726318	K562	blood:	n/a	n/a
23	CBX3	chr8:11723728-11724492	K562	blood:	n/a	n/a
24	ELF1	chr8:11724150-11724452	K562	blood:	n/a	chr8:11724294-11724307
25	POLR2A	chr8:11717595-11726429	MCF10A-Er-Src	breast:	n/a	n/a
26	HEY1	chr8:11724319-11724663	HepG2	liver:	n/a	n/a
27	ZNF263	chr8:11724187-11724559	HEK293-T-REx	kidney:	n/a	chr8:11724262-11724283 chr8:11724294-11724315
28	POLR2A	chr8:11723599-11726575	K562	blood:	n/a	n/a
29	MAZ	chr8:11724271-11726555	IMR90	lung:	n/a	chr8:11724739-11724749 chr8:11725956-11725966 chr8:11726080-11726090
30	POLR2A	chr8:11724342-11725021	HepG2	liver:	n/a	n/a
31	MAZ	chr8:11723679-11726511	K562	blood:	n/a	chr8:11724739-11724749 chr8:11725956-11725966 chr8:11726080-11726090
32	NR2F2	chr8:11723452-11725221	K562	blood:	n/a	n/a
33	POLR2A	chr8:11724059-11726381	K562	blood:	n/a	n/a
34	POLR2A	chr8:11720772-11734387	K562	blood:	n/a	n/a
35	POLR2A	chr8:11723548-11725869	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11626986..11628635-chr8:11724070..11726191,2	K562	blood:
2	chr8:11724192..11726313-chr8:11753136..11754724,2	MCF-7	breast:
3	chr8:11706290..11708186-chr8:11724044..11726922,3	MCF-7	breast:
4	chr8:11701711..11703998-chr8:11723479..11725596,2	K562	blood:
5	chr8:11710836..11712408-chr8:11724380..11726355,2	MCF-7	breast:
6	chr8:11678607..11680636-chr8:11724388..11726584,2	MCF-7	breast:
7	chr8:11708512..11715317-chr8:11723234..11727095,9	MCF-7	breast:
8	chr8:11695946..11697771-chr8:11722616..11724742,2	MCF-7	breast:

Variant related genes	Relation type
CTSB	TF binding region
ENSG00000255144	Chromatin interaction
ENSG00000154328	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000164733	Chromatin interaction
ENSG00000269899	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
12	nsv890365	chr8:11666451-11735641	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv890366	chr8:11666451-11900847	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv1031158	chr8:11666558-11759064	Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv539477	chr8:11666558-11759064	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1018042	chr8:11667496-11882385	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	nsv890367	chr8:11668153-11793529	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv890369	chr8:11671041-11840011	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv1016952	chr8:11679271-11849955	Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv1029093	chr8:11679271-11858466	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
21	nsv539478	chr8:11679271-11858466	Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv1017334	chr8:11688534-11732949	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv539479	chr8:11688534-11732949	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	nsv1019738	chr8:11696393-11732949	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv539480	chr8:11696393-11732949	Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
26	nsv1031972	chr8:11696393-11805961	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
27	nsv539481	chr8:11696393-11805961	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
28	esv34042	chr8:11698337-11726817	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
29	nsv610293	chr8:11698747-11929734	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
30	nsv516685	chr8:11698747-12570199	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
31	esv3409280	chr8:11724368-11727116	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11708600-11724600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:11712000-11724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:11721200-11724800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:11721600-11724800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr8:11721800-11725000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
6	chr8:11722400-11724600	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr8:11722600-11724600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:11722600-11724600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr8:11722600-11724600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr8:11722600-11724600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
11	chr8:11722600-11724600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:11722600-11724600	Active TSS	Right Atrium	heart
13	chr8:11722600-11724800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr8:11722800-11724800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr8:11723000-11725000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr8:11723000-11726000	Active TSS	Liver	Liver
17	chr8:11723200-11724600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr8:11723400-11724600	Flanking Active TSS	NHEK	skin
19	chr8:11723400-11724800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr8:11723400-11726200	Active TSS	Fetal Kidney	kidney
21	chr8:11723400-11726400	Active TSS	Brain Substantia Nigra	brain
22	chr8:11723600-11724600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:11723600-11724600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr8:11723600-11724600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr8:11723600-11724600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:11723600-11724600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr8:11723600-11724600	Flanking Active TSS	Right Ventricle	heart
28	chr8:11723600-11724600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr8:11723600-11724600	Flanking Active TSS	HUVEC	blood vessel
30	chr8:11723600-11724600	Flanking Active TSS	K562	blood
31	chr8:11723600-11724800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:11723600-11724800	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr8:11723600-11724800	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr8:11723600-11724800	Flanking Active TSS	Placenta	Placenta
35	chr8:11723600-11724800	Flanking Active TSS	Fetal Thymus	thymus
36	chr8:11723600-11724800	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr8:11723600-11724800	Flanking Active TSS	Dnd41	blood
38	chr8:11723600-11725000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr8:11723600-11725000	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr8:11723600-11725000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr8:11723600-11725000	Flanking Active TSS	Hela-S3	cervix
42	chr8:11723600-11725200	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr8:11723600-11725200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr8:11723600-11725200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:11723600-11726600	Active TSS	Fetal Brain Female	brain
46	chr8:11723800-11724600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:11723800-11724600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr8:11723800-11724600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:11723800-11724600	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr8:11723800-11724600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links