Variant report

Variant	rs61372296
Chromosome Location	chr8:11325093-11325094
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	SMC3	chr8:11324934-11325460	Hela-S3	cervix:	n/a	chr8:11325260-11325274
2	CTCF	chr8:11325092-11325395	HepG2	liver:	n/a	chr8:11325260-11325273 chr8:11325258-11325276 chr8:11325235-11325248 chr8:11325261-11325271
3	BACH1	chr8:11325083-11325410	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr8:11322867-11325851	SK-N-SH	brain:	n/a	chr8:11325260-11325273 chr8:11325258-11325276 chr8:11324181-11324194 chr8:11324805-11324814 chr8:11325235-11325248 chr8:11325261-11325271 chr8:11325761-11325774
5	SP4	chr8:11325020-11325502	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr8:11324902-11325158	HepG2	liver:	n/a	n/a
7	YY1	chr8:11325008-11325466	A549	lung:	n/a	chr8:11325120-11325134
8	POLR2A	chr8:11324805-11325180	GM12878	blood:	n/a	n/a
9	MXI1	chr8:11325088-11325403	H1-hESC	embryonic stem cell:	n/a	n/a
10	EP300	chr8:11325091-11325370	GM12878	blood:	n/a	n/a
11	CTCF	chr8:11325064-11325406	Fibrobl	skin:	n/a	chr8:11325260-11325273 chr8:11325258-11325276 chr8:11325235-11325248 chr8:11325261-11325271
12	YY1	chr8:11323906-11325481	GM12878	blood:	n/a	chr8:11324063-11324077 chr8:11324176-11324185 chr8:11324072-11324086 chr8:11325120-11325134 chr8:11324078-11324087 chr8:11324429-11324443 chr8:11324112-11324121 chr8:11324073-11324087
13	CTCF	chr8:11325083-11325438	NHEK	skin:	n/a	chr8:11325260-11325273 chr8:11325258-11325276 chr8:11325235-11325248 chr8:11325261-11325271
14	TCF3	chr8:11325016-11325384	GM12878	blood:	n/a	n/a
15	CTCF	chr8:11325030-11325428	GM12891	blood:	n/a	chr8:11325260-11325273 chr8:11325258-11325276 chr8:11325235-11325248 chr8:11325261-11325271
16	POLR2A	chr8:11323736-11325343	GM12892	blood:	n/a	n/a
17	CTCF	chr8:11325073-11325419	H1-hESC	embryonic stem cell:	n/a	chr8:11325260-11325273 chr8:11325258-11325276 chr8:11325235-11325248 chr8:11325261-11325271
18	POLR2A	chr8:11323814-11325276	GM15510	blood:	n/a	n/a
19	EBF1	chr8:11323932-11325363	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:11324792-11325219	GM12891	blood:	n/a	n/a
21	ZEB1	chr8:11324869-11325419	GM12878	blood:	n/a	n/a
22	SMC3	chr8:11324098-11325549	GM12878	blood:	n/a	chr8:11325540-11325547 chr8:11325260-11325274
23	SP1	chr8:11324886-11325452	A549	lung:	n/a	n/a
24	MAX	chr8:11323725-11325464	A549	lung:	n/a	chr8:11324177-11324187
25	POLR2A	chr8:11324844-11325449	U87	brain:	n/a	n/a
26	NRF1	chr8:11324974-11325384	H1-hESC	embryonic stem cell:	n/a	chr8:11325120-11325129 chr8:11325109-11325123 chr8:11325117-11325131 chr8:11325120-11325131 chr8:11325120-11325134
27	POLR2A	chr8:11325073-11325216	A549	lung:	n/a	n/a
28	CTCF	chr8:11325034-11325530	A549	lung:	n/a	chr8:11325260-11325273 chr8:11325258-11325276 chr8:11325235-11325248 chr8:11325261-11325271
29	BCLAF1	chr8:11324924-11325508	GM12878	blood:	n/a	n/a
30	CTCF	chr8:11324996-11325418	GM10266	blood:	n/a	chr8:11325260-11325273 chr8:11325258-11325276 chr8:11325235-11325248 chr8:11325261-11325271
31	CTCF	chr8:11324995-11325395	K562	blood:	n/a	chr8:11325260-11325273 chr8:11325258-11325276 chr8:11325235-11325248 chr8:11325261-11325271
32	POLR2A	chr8:11323865-11325192	GM12878	blood:	n/a	n/a
33	TAF1	chr8:11324982-11325362	GM12878	blood:	n/a	n/a
34	NFYB	chr8:11325014-11325333	GM12878	blood:	n/a	n/a
35	POLR2A	chr8:11324939-11325235	HCT-116	colon:	n/a	n/a
36	MAX	chr8:11323666-11325569	A549	lung:	n/a	chr8:11324177-11324187
37	POLR2A	chr8:11323748-11325296	GM18505	blood:	n/a	n/a
38	CTCF	chr8:11324805-11325451	GM12892	blood:	n/a	chr8:11325260-11325273 chr8:11325258-11325276 chr8:11324805-11324814 chr8:11325235-11325248 chr8:11325261-11325271
39	NFIC	chr8:11324861-11325450	GM12878	blood:	n/a	n/a
40	CHD2	chr8:11324840-11325487	GM12878	blood:	n/a	n/a
41	SIN3A	chr8:11323870-11325352	GM12878	blood:	n/a	chr8:11324432-11324445
42	CTCF	chr8:11324954-11325523	MCF-7	breast:	n/a	chr8:11325260-11325273 chr8:11325258-11325276 chr8:11325235-11325248 chr8:11325261-11325271
43	GTF2F1	chr8:11325088-11325350	Hela-S3	cervix:	n/a	n/a
44	RAD21	chr8:11325032-11325490	H1-hESC	embryonic stem cell:	n/a	chr8:11325260-11325270 chr8:11325262-11325271 chr8:11325259-11325272 chr8:11325258-11325270 chr8:11325256-11325275
45	RAD21	chr8:11325044-11325420	A549	lung:	n/a	chr8:11325260-11325270 chr8:11325262-11325271 chr8:11325259-11325272 chr8:11325258-11325270 chr8:11325256-11325275
46	MXI1	chr8:11320819-11325738	SK-N-SH	brain:	n/a	chr8:11321457-11321466 chr8:11321457-11321466
47	ZBTB7A	chr8:11324949-11325380	ECC-1	luminal epithelium:	n/a	n/a
48	CTCF	chr8:11325000-11325150	RPTEC	kidney:	n/a	n/a
49	YY1	chr8:11325063-11325366	K562	blood:	n/a	chr8:11325120-11325134
50	RCOR1	chr8:11325093-11325418	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11301164..11304076-chr8:11323710..11325324,2	K562	blood:
2	chr8:11322451..11325795-chr8:11329496..11335044,6	MCF-7	breast:
3	chr8:11323210..11326776-chr8:11330455..11332610,5	MCF-7	breast:

Variant related genes	Relation type
FAM167A	TF binding region
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11987044	0.86[AFR][1000 genomes]
rs11997701	1.00[EUR][1000 genomes]
rs11998211	1.00[EUR][1000 genomes]
rs17153171	1.00[EUR][1000 genomes]
rs17153437	1.00[EUR][1000 genomes]
rs17153457	1.00[EUR][1000 genomes]
rs2254959	1.00[EUR][1000 genomes]
rs2409783	1.00[EUR][1000 genomes]
rs34926793	1.00[EUR][1000 genomes]
rs56185487	1.00[EUR][1000 genomes]
rs56888159	1.00[EUR][1000 genomes]
rs57586616	1.00[EUR][1000 genomes]
rs57741049	1.00[EUR][1000 genomes]
rs59820494	1.00[EUR][1000 genomes]
rs60536897	1.00[EUR][1000 genomes]
rs60798606	1.00[EUR][1000 genomes]
rs61104770	1.00[EUR][1000 genomes]
rs6994766	1.00[EUR][1000 genomes]
rs7012288	1.00[EUR][1000 genomes]
rs73530698	1.00[EUR][1000 genomes]
rs73533631	1.00[EUR][1000 genomes]
rs73533635	1.00[EUR][1000 genomes]
rs73533636	1.00[EUR][1000 genomes]
rs73533689	1.00[EUR][1000 genomes]
rs73535718	1.00[EUR][1000 genomes]
rs73535720	1.00[EUR][1000 genomes]
rs73535722	1.00[EUR][1000 genomes]
rs73535733	1.00[EUR][1000 genomes]
rs73535736	1.00[EUR][1000 genomes]
rs73539735	1.00[EUR][1000 genomes]
rs73539737	1.00[EUR][1000 genomes]
rs73539765	1.00[EUR][1000 genomes]
rs73541732	1.00[EUR][1000 genomes]
rs73541774	1.00[EUR][1000 genomes]
rs73543849	1.00[EUR][1000 genomes]
rs73543868	1.00[EUR][1000 genomes]
rs73543893	1.00[EUR][1000 genomes]
rs73547808	1.00[EUR][1000 genomes]
rs73547893	1.00[EUR][1000 genomes]
rs73547901	1.00[EUR][1000 genomes]
rs73547902	1.00[EUR][1000 genomes]
rs73663108	1.00[EUR][1000 genomes]
rs7815435	1.00[EUR][1000 genomes]
rs7831922	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	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
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1030756	chr8:11292073-11332782	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11321600-11325200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr8:11322400-11325400	Active TSS	Brain Anterior Caudate	brain
3	chr8:11323000-11325200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr8:11323000-11325200	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr8:11323000-11325400	Active TSS	Brain Angular Gyrus	brain
6	chr8:11323000-11325400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr8:11323200-11325200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:11323200-11325200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr8:11323200-11325200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
10	chr8:11323400-11325200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:11323400-11325400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
12	chr8:11323400-11325400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
13	chr8:11323600-11325200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
14	chr8:11323600-11325200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
15	chr8:11323600-11325400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
16	chr8:11323600-11325400	Active TSS	A549	lung
17	chr8:11323800-11325200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr8:11323800-11325200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:11323800-11325200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:11323800-11325200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr8:11323800-11325200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:11323800-11325200	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:11323800-11325200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr8:11323800-11325200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:11323800-11325200	Flanking Active TSS	Liver	Liver
26	chr8:11323800-11325200	Active TSS	HSMMtube	muscle
27	chr8:11323800-11325400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr8:11323800-11325400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:11323800-11325400	Flanking Active TSS	HMEC	breast
30	chr8:11323800-11325400	Active TSS	NHDF-Ad	bronchial
31	chr8:11323800-11325600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:11324000-11325200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:11324000-11325200	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr8:11324000-11325200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr8:11324000-11325200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:11324000-11325200	Active TSS	Gastric	stomach
37	chr8:11324000-11325200	Active TSS	Right Atrium	heart
38	chr8:11324000-11325400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr8:11324000-11325400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:11324000-11325400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:11324000-11325400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
42	chr8:11324000-11325600	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr8:11324200-11325200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:11324200-11325200	Flanking Bivalent TSS/Enh	NH-A	brain
45	chr8:11324400-11325200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:11324400-11325200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:11324400-11325200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr8:11324400-11325200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
49	chr8:11324400-11325200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr8:11324400-11325200	Flanking Bivalent TSS/Enh	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links