Variant report

Variant	rs112961088
Chromosome Location	chr10:52346033-52346034
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:4)
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	CBX3	chr10:52345999-52346700	HCT-116	colon:	n/a	n/a
2	ZC3H11A	chr10:52345660-52346523	K562	blood:	n/a	n/a
3	JUN	chr10:52345182-52347030	K562	blood:	n/a	chr10:52346425-52346434 chr10:52346426-52346435
4	CBX3	chr10:52345962-52346743	HCT-116	colon:	n/a	n/a
5	CEBPB	chr10:52346020-52346901	HCT-116	colon:	n/a	n/a
6	MXI1	chr10:52345927-52346669	IMR90	lung:	n/a	n/a
7	MAX	chr10:52345942-52346661	K562	blood:	n/a	n/a
8	MAX	chr10:52346000-52346807	HCT-116	colon:	n/a	n/a
9	BRCA1	chr10:52346019-52346655	Hela-S3	cervix:	n/a	n/a
10	BHLHE40	chr10:52345958-52346690	K562	blood:	n/a	n/a
11	CBX3	chr10:52346002-52346614	K562	blood:	n/a	n/a
12	MYC	chr10:52345924-52346647	K562	blood:	n/a	n/a
13	MAX	chr10:52346004-52346760	HCT-116	colon:	n/a	n/a
14	SP1	chr10:52346017-52346825	HCT-116	colon:	n/a	n/a
15	GTF2F1	chr10:52345982-52346747	Hela-S3	cervix:	n/a	n/a
16	SMC3	chr10:52346032-52346705	Hela-S3	cervix:	n/a	n/a
17	HCFC1	chr10:52345986-52346601	K562	blood:	n/a	n/a
18	IRF1	chr10:52346011-52346708	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52341787..52346100-chr10:52382899..52385718,8	MCF-7	breast:
2	chr10:52345136..52347979-chr10:52349121..52350897,2	MCF-7	breast:
3	chr10:52343887..52348125-chr10:52383719..52386062,5	K562	blood:
4	chr10:52342227..52348125-chr10:52381237..52386507,8	K562	blood:

No data

Variant related genes	Relation type
RMRPP4	TF binding region
ENSG00000226200	Chromatin interaction
ENSG00000198964	Chromatin interaction
ENSG00000238523	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv8660	chr10:52328259-52346278	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
9	nsv971909	chr10:52344351-52348873	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52322000-52348600	Weak transcription	Fetal Stomach	stomach
2	chr10:52336200-52349000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr10:52336400-52346200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:52336400-52348600	Weak transcription	Lung	lung
5	chr10:52336800-52363000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:52337000-52348000	Weak transcription	Thymus	Thymus
7	chr10:52337800-52346200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:52337800-52346400	Weak transcription	Spleen	Spleen
9	chr10:52337800-52347800	Weak transcription	Fetal Thymus	thymus
10	chr10:52337800-52352800	Weak transcription	Fetal Brain Male	brain
11	chr10:52338000-52346200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:52338000-52346200	Weak transcription	HUVEC	blood vessel
13	chr10:52338000-52356400	Weak transcription	Fetal Brain Female	brain
14	chr10:52338000-52363800	Weak transcription	Fetal Kidney	kidney
15	chr10:52338000-52367000	Weak transcription	Aorta	Aorta
16	chr10:52338200-52346200	Weak transcription	NHDF-Ad	bronchial
17	chr10:52338200-52346400	Weak transcription	Adipose Nuclei	Adipose
18	chr10:52338200-52346400	Weak transcription	Osteobl	bone
19	chr10:52338200-52347600	Weak transcription	Fetal Muscle Leg	muscle
20	chr10:52338200-52347800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:52338200-52348800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:52338200-52353600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:52338200-52353800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr10:52338400-52346200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr10:52338400-52348000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr10:52338600-52347600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr10:52338600-52353400	Weak transcription	Brain Germinal Matrix	brain
28	chr10:52338600-52353600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr10:52338800-52347800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr10:52338800-52348000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:52340400-52360200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr10:52341000-52346200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr10:52341000-52347600	Weak transcription	Fetal Lung	lung
34	chr10:52341000-52348000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr10:52341200-52347400	Weak transcription	HepG2	liver
36	chr10:52341200-52347800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr10:52341200-52348800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr10:52341200-52373000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr10:52341400-52347800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr10:52341400-52355400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr10:52341400-52360200	Weak transcription	GM12878-XiMat	blood
42	chr10:52341600-52347800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr10:52341600-52348600	Weak transcription	Fetal Intestine Small	intestine
44	chr10:52341800-52350600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr10:52341800-52351800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:52341800-52352800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr10:52341800-52355000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr10:52341800-52362000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr10:52342000-52347600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr10:52342000-52352000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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