Variant report

Variant	rs17875347
Chromosome Location	chr10:94414638-94414639
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	chr10:94414317-94417721	K562	blood:	n/a	n/a

Variant related genes	Relation type
RN7SL644P	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11187066	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12253177	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12258487	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12262994	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264361	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12266443	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875329	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875332	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17875346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275218	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2275220	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421942	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737225	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57299222	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74151654	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151656	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151657	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151659	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151667	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74151672	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3446249	chr10:94374508-94549394	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1799475	chr10:94392728-94450386	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv1801116	chr10:94392728-94450386	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv1839570	chr10:94392728-94450386	Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	esv1837497	chr10:94392728-94452430	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv1794949	chr10:94392728-94465559	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv825517	chr10:94397149-94472509	Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv825518	chr10:94403446-94467700	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	esv1798525	chr10:94404824-94450386	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	esv1799618	chr10:94404824-94450386	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	esv1801775	chr10:94404824-94450386	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	esv1837596	chr10:94404824-94450386	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	esv1840926	chr10:94404824-94450386	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	esv1842618	chr10:94404824-94450386	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking 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	16 gene(s)	inside rSNPs	diseases
17	esv1802456	chr10:94404824-94452430	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	esv1846797	chr10:94414263-94450386	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
19	esv1851354	chr10:94414263-94450386	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
20	esv1851372	chr10:94414263-94450386	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94354000-94420000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:94354200-94416000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:94364000-94416400	Strong transcription	Dnd41	blood
4	chr10:94364200-94417400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr10:94364400-94415200	Weak transcription	Fetal Heart	heart
6	chr10:94365600-94415600	Strong transcription	Fetal Thymus	thymus
7	chr10:94371000-94417000	Weak transcription	Primary B cells from cord blood	blood
8	chr10:94374800-94416000	Weak transcription	Placenta	Placenta
9	chr10:94374800-94418600	Weak transcription	Brain Germinal Matrix	brain
10	chr10:94384000-94416400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:94389000-94416400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:94391400-94415000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr10:94391400-94415400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr10:94391400-94415400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr10:94391400-94415400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr10:94391400-94415400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:94391400-94415800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:94392000-94415400	Weak transcription	Small Intestine	intestine
19	chr10:94395000-94414800	Weak transcription	Fetal Brain Male	brain
20	chr10:94396400-94418200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:94398400-94421200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:94400200-94416800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:94403600-94415600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr10:94403600-94416200	Strong transcription	GM12878-XiMat	blood
25	chr10:94404400-94415200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:94404400-94416800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr10:94404600-94415000	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr10:94404600-94416000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr10:94404800-94415600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr10:94404800-94415800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr10:94405200-94415800	Strong transcription	NHDF-Ad	bronchial
32	chr10:94406000-94415800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr10:94406200-94415800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr10:94407400-94415600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr10:94409800-94417000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:94410800-94416200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr10:94410800-94416200	Weak transcription	NHEK	skin
38	chr10:94411000-94415200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr10:94411000-94416600	Strong transcription	Thymus	Thymus
40	chr10:94411000-94417400	Weak transcription	Fetal Lung	lung
41	chr10:94411200-94416200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:94412000-94415400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr10:94412200-94415800	Weak transcription	Fetal Intestine Small	intestine
44	chr10:94412200-94416000	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr10:94412400-94415400	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr10:94412400-94415600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr10:94412400-94415600	Strong transcription	K562	blood
48	chr10:94412400-94415800	Strong transcription	HMEC	breast
49	chr10:94412400-94417600	Weak transcription	Fetal Stomach	stomach
50	chr10:94413000-94415400	Strong transcription	HSMM	muscle

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