Variant report

Variant	rs74132710
Chromosome Location	chr10:52179121-52179122
allele	G/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	STAT3	chr10:52179088-52179181	MCF10A-Er-Src	breast:	n/a	n/a
2	PRDM1	chr10:52179118-52179508	Hela-S3	cervix:	n/a	chr10:52179309-52179324 chr10:52179310-52179324
3	POLR2A	chr10:52177293-52179162	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:52176233..52179172-chr10:52229395..52232901,6	MCF-7	breast:
2	chr10:52173595..52180106-chr10:52381535..52385847,7	MCF-7	breast:
3	chr10:52049655..52052352-chr10:52178412..52180723,2	MCF-7	breast:
4	chr10:52173619..52179913-chr10:52381938..52386991,6	K562	blood:
5	chr10:52152624..52157680-chr10:52173844..52179255,6	K562	blood:

Variant related genes	Relation type
SGMS1	TF binding region
ENSG00000226200	Chromatin interaction
ENSG00000225303	Chromatin interaction
ENSG00000198964	Chromatin interaction
ENSG00000269700	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56040538	0.80[AFR][1000 genomes]
rs56257817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57185346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57222480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58417005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59310089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59583053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74131292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74131295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132715	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv521273	chr10:52051645-52197847	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52178400-52179200	Flanking Active TSS	K562	blood
2	chr10:52178400-52180400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:52178400-52181000	Weak transcription	Esophagus	oesophagus
4	chr10:52178400-52220000	Weak transcription	Pancreas	Pancrea
5	chr10:52178600-52179200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr10:52178600-52179200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr10:52178600-52179200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr10:52178600-52179600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:52178600-52179600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr10:52178600-52179600	Weak transcription	Placenta	Placenta
11	chr10:52178600-52179800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:52178600-52179800	Enhancers	Liver	Liver
13	chr10:52178600-52179800	Enhancers	HepG2	liver
14	chr10:52178600-52180000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr10:52178600-52180200	Enhancers	Fetal Heart	heart
16	chr10:52178600-52180600	Weak transcription	Primary B cells from cord blood	blood
17	chr10:52178600-52180600	Weak transcription	Brain Anterior Caudate	brain
18	chr10:52178600-52180600	Enhancers	Fetal Intestine Large	intestine
19	chr10:52178600-52180600	Weak transcription	Fetal Kidney	kidney
20	chr10:52178600-52181000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr10:52178600-52181000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr10:52178600-52181000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:52178600-52181000	Weak transcription	Brain Angular Gyrus	brain
24	chr10:52178600-52181000	Weak transcription	Psoas Muscle	Psoas
25	chr10:52178600-52181000	Weak transcription	Stomach Mucosa	stomach
26	chr10:52178600-52181000	Weak transcription	Spleen	Spleen
27	chr10:52178600-52181200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr10:52178600-52181400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:52178600-52181400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr10:52178600-52181400	Weak transcription	Gastric	stomach
31	chr10:52178600-52181400	Weak transcription	Lung	lung
32	chr10:52178600-52181600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:52178600-52181600	Weak transcription	Fetal Stomach	stomach
34	chr10:52178600-52181800	Weak transcription	Fetal Brain Female	brain
35	chr10:52178600-52182000	Enhancers	Brain Hippocampus Middle	brain
36	chr10:52178600-52182400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr10:52178600-52182600	Enhancers	Fetal Lung	lung
38	chr10:52178600-52183400	Enhancers	Brain Cingulate Gyrus	brain
39	chr10:52178600-52188800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr10:52178600-52217200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr10:52178600-52219400	Weak transcription	Left Ventricle	heart
42	chr10:52178800-52179200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr10:52178800-52179200	Enhancers	Colon Smooth Muscle	Colon
44	chr10:52178800-52179200	Flanking Active TSS	GM12878-XiMat	blood
45	chr10:52178800-52179200	Enhancers	Osteobl	bone
46	chr10:52178800-52179600	Weak transcription	Right Atrium	heart
47	chr10:52178800-52179800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:52178800-52179800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr10:52178800-52179800	Weak transcription	NHEK	skin
50	chr10:52178800-52180000	Enhancers	Primary T helper cells fromperipheralblood	blood

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