Variant report

Variant	rs6996115
Chromosome Location	chr8:11715412-11715413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:11714208-11715759	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:11715196-11715736	HepG2	liver:	n/a	n/a
3	GATA1	chr8:11715390-11715858	PBDE	blood:	n/a	n/a
4	CTCF	chr8:11715300-11715450	HFF-Myc	foreskin:	n/a	n/a
5	CTCF	chr8:11715320-11715470	HFF	foreskin:	n/a	n/a
6	POLR2A	chr8:11715156-11715466	MCF10A-Er-Src	breast:	n/a	n/a
7	CTCF	chr8:11715400-11715550	HA-sp	spinal cord:	n/a	n/a
8	POLR2A	chr8:11715109-11715708	HepG2	liver:	n/a	n/a
9	CTCF	chr8:11715380-11715530	HFF-Myc	foreskin:	n/a	n/a
10	POLR2A	chr8:11713603-11717106	MCF10A-Er-Src	breast:	n/a	n/a
11	CTCF	chr8:11715383-11715448	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr8:11714536-11715632	A549	lung:	n/a	n/a
13	RAD21	chr8:11715201-11715600	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr8:11715306-11715519	H1-hESC	embryonic stem cell:	n/a	n/a
15	STAT3	chr8:11715380-11715412	MCF10A-Er-Src	breast:	n/a	n/a
16	CTCF	chr8:11715375-11715502	GM19238	blood:	n/a	n/a
17	CTCF	chr8:11715280-11715430	HA-sp	spinal cord:	n/a	n/a
18	POLR2A	chr8:11715033-11715720	Hela-S3	cervix:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11714135..11717431-chr8:11717814..11720890,3	K562	blood:
2	chr8:11710005..11711598-chr8:11715052..11717778,2	MCF-7	breast:

No data

Variant related genes	Relation type
CTSB	TF binding region
ENSG00000164733	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17573	1.00[AMR][1000 genomes]
rs2230070	1.00[AMR][1000 genomes]
rs57376926	1.00[AMR][1000 genomes]
rs58313162	1.00[AMR][1000 genomes]
rs61141262	1.00[AMR][1000 genomes]
rs61287297	1.00[AMR][1000 genomes]
rs6981167	1.00[AMR][1000 genomes]
rs6998335	1.00[AMR][1000 genomes]
rs73534705	1.00[AMR][1000 genomes]
rs73534706	1.00[AMR][1000 genomes]
rs73538662	1.00[AMR][1000 genomes]
rs73538685	1.00[AMR][1000 genomes]
rs73545763	1.00[AMR][1000 genomes]
rs73545769	1.00[AMR][1000 genomes]
rs7818491	1.00[AMR][1000 genomes]
rs7823403	1.00[AMR][1000 genomes]
rs7824489	1.00[AMR][1000 genomes]
rs8191524	1.00[AMR][1000 genomes]
rs8191532	1.00[AMR][1000 genomes]
rs8191533	1.00[AMR][1000 genomes]
rs8191580	1.00[AMR][1000 genomes]
rs8191628	1.00[AMR][1000 genomes]
rs8191653	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 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	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	nsv890368	chr8:11671041-11718528	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11698600-11716600	Strong transcription	Primary T cells from cord blood	blood
2	chr8:11700600-11721200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:11703000-11721200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:11703400-11718800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:11704400-11715600	Weak transcription	GM12878-XiMat	blood
6	chr8:11705200-11722400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:11705200-11723000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:11706600-11724400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:11706800-11723000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:11706800-11724400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:11708600-11716200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:11708600-11718200	Weak transcription	Aorta	Aorta
13	chr8:11708600-11724600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:11709400-11718200	Weak transcription	Fetal Kidney	kidney
15	chr8:11711600-11716600	Weak transcription	Psoas Muscle	Psoas
16	chr8:11711600-11723800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:11711800-11718400	Weak transcription	Pancreas	Pancrea
18	chr8:11712000-11716000	Weak transcription	HSMM	muscle
19	chr8:11712000-11718200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:11712000-11718600	Weak transcription	Colonic Mucosa	Colon
21	chr8:11712000-11719800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:11712000-11720000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:11712000-11721800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:11712000-11724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:11712200-11716200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:11712200-11716400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr8:11712200-11716600	Strong transcription	Fetal Stomach	stomach
28	chr8:11712200-11717600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:11712200-11718200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:11712200-11718400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:11712400-11716200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:11712400-11716400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr8:11712400-11717000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:11712400-11718400	Weak transcription	HSMMtube	muscle
35	chr8:11712600-11716000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:11712600-11716200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr8:11712600-11716200	Weak transcription	Spleen	Spleen
38	chr8:11712600-11716200	Weak transcription	NHDF-Ad	bronchial
39	chr8:11712600-11716400	Weak transcription	Thymus	Thymus
40	chr8:11712600-11718200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:11712600-11718200	Weak transcription	Dnd41	blood
42	chr8:11712600-11718200	Weak transcription	HUVEC	blood vessel
43	chr8:11712600-11718400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:11712600-11718400	Weak transcription	Small Intestine	intestine
45	chr8:11712600-11719000	Weak transcription	Fetal Lung	lung
46	chr8:11713000-11716000	Weak transcription	Fetal Thymus	thymus
47	chr8:11713000-11718200	Strong transcription	Fetal Intestine Large	intestine
48	chr8:11713200-11715600	Strong transcription	HepG2	liver
49	chr8:11713200-11716200	Strong transcription	Fetal Intestine Small	intestine
50	chr8:11713200-11716200	Weak transcription	K562	blood

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