Variant report

Variant	rs74131171
Chromosome Location	chr10:51501240-51501241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:51497870..51501630-chr10:51543327..51546015,3	MCF-7	breast:
2	chr10:47637552..47640564-chr10:51501175..51503678,3	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11003820	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11004361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11004455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11005274	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11005729	1.00[AMR][1000 genomes]
rs12246321	1.00[AMR][1000 genomes]
rs12247763	1.00[AMR][1000 genomes]
rs12249198	1.00[AMR][1000 genomes]
rs12250658	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914406	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914420	1.00[AMR][1000 genomes]
rs56301424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59436713	1.00[AMR][1000 genomes]
rs60528425	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74131167	0.89[AFR][1000 genomes]
rs74131182	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758219	chr10:50971974-51925166	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	esv2759749	chr10:50971974-51925166	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv428232	chr10:50971974-51925166	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv895381	chr10:51094660-51515534	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv1830900	chr10:51187411-51903662	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv895383	chr10:51260747-51724915	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv895382	chr10:51330433-51515534	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1048474	chr10:51330433-51545872	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv1796295	chr10:51371074-51521245	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv1806057	chr10:51371074-51521245	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	esv1821612	chr10:51371074-51521245	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv1825752	chr10:51371074-51521245	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv1844388	chr10:51371074-51521245	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv427864	chr10:51371074-51521245	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv508583	chr10:51385007-51595892	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	esv1850613	chr10:51393995-51501515	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51490600-51503200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:51495000-51501600	Enhancers	HepG2	liver
3	chr10:51495800-51506800	Weak transcription	Right Atrium	heart
4	chr10:51496400-51501800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:51496600-51501600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:51496600-51502200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr10:51496800-51505600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr10:51497000-51502200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:51497000-51502400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:51497000-51507200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:51497200-51504400	Enhancers	Spleen	Spleen
12	chr10:51497400-51502600	Weak transcription	Esophagus	oesophagus
13	chr10:51497400-51502800	Enhancers	Primary hematopoietic stem cells	blood
14	chr10:51497400-51505400	Enhancers	Primary B cells from peripheral blood	blood
15	chr10:51497600-51501600	Enhancers	Placenta	Placenta
16	chr10:51497800-51502000	Enhancers	Primary B cells from cord blood	blood
17	chr10:51498600-51502200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr10:51498800-51502200	Weak transcription	GM12878-XiMat	blood
19	chr10:51499000-51502800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr10:51499200-51502200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr10:51499200-51502600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr10:51499200-51503600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr10:51499400-51503400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr10:51499800-51503800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr10:51500000-51501600	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr10:51500000-51501600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr10:51500000-51501800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr10:51500000-51501800	Flanking Active TSS	Fetal Thymus	thymus
29	chr10:51500000-51503000	Flanking Active TSS	Dnd41	blood
30	chr10:51500000-51503600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr10:51500000-51503600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr10:51500000-51504000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr10:51500200-51501400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr10:51500200-51503400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr10:51500400-51501400	Enhancers	K562	blood
36	chr10:51500400-51503000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr10:51500400-51503400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:51500400-51503800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr10:51500600-51501400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr10:51500600-51503200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr10:51500800-51503800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr10:51501200-51501400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr10:51501200-51501600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:51501200-51501600	Flanking Active TSS	Thymus	Thymus
45	chr10:51501200-51501800	Enhancers	Lung	lung
46	chr10:51501200-51503200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr10:51501200-51503200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr10:51501200-51503600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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