Variant report

Variant	rs7072980
Chromosome Location	chr10:21806321-21806322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:21783306..21788486-chr10:21805319..21811721,9	K562	blood:
2	chr10:21789123..21792163-chr10:21802631..21806658,3	MCF-7	breast:
3	chr10:21805605..21807805-chr10:21851609..21854226,2	MCF-7	breast:
4	chr10:21784381..21785021-chr10:21806127..21806753,2	MCF-7	breast:
5	chr10:21783475..21788073-chr10:21802793..21808915,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207347	Chromatin interaction
ENSG00000204682	Chromatin interaction
ENSG00000222071	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11815111	1.00[ASN][1000 genomes]
rs11817861	1.00[ASN][1000 genomes]
rs12354471	1.00[ASN][1000 genomes]
rs56789943	1.00[ASN][1000 genomes]
rs57375786	1.00[ASN][1000 genomes]
rs57427469	1.00[ASN][1000 genomes]
rs57962540	1.00[ASN][1000 genomes]
rs60058036	1.00[ASN][1000 genomes]
rs6482185	1.00[ASN][1000 genomes]
rs6482186	1.00[ASN][1000 genomes]
rs7070997	1.00[ASN][1000 genomes]
rs7073709	1.00[ASN][1000 genomes]
rs7075425	1.00[ASN][1000 genomes]
rs7077377	1.00[ASN][1000 genomes]
rs7079672	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7087761	1.00[ASN][1000 genomes]
rs7089548	1.00[ASN][1000 genomes]
rs7091704	1.00[ASN][1000 genomes]
rs7095009	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7100471	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7100553	1.00[ASN][1000 genomes]
rs7101344	0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7901037	1.00[ASN][1000 genomes]
rs7902427	1.00[ASN][1000 genomes]
rs7903144	1.00[ASN][1000 genomes]
rs7909582	1.00[ASN][1000 genomes]
rs7911723	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7912009	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825284	chr10:21739527-21847437	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv825285	chr10:21742026-21874334	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv825286	chr10:21757784-21838890	Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	nsv825288	chr10:21759085-21831354	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
5	nsv825289	chr10:21762506-21845875	Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
6	nsv527055	chr10:21764019-21822856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	nsv825290	chr10:21777857-21830878	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
8	nsv894936	chr10:21781589-21827796	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	nsv550200	chr10:21782842-21824727	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
10	nsv894937	chr10:21782842-21827796	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
11	nsv517469	chr10:21783634-21822856	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
12	nsv894938	chr10:21784899-21827796	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
13	nsv894939	chr10:21789406-21830104	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv825291	chr10:21792100-21830946	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv894940	chr10:21796081-21823525	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv550201	chr10:21796081-21824727	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv894941	chr10:21796081-21827796	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS 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	26 gene(s)	inside rSNPs	diseases
18	nsv894942	chr10:21798241-21823525	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	nsv894943	chr10:21798241-21824619	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
20	nsv894944	chr10:21798241-21827796	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
21	nsv894945	chr10:21798241-21830104	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
22	nsv894946	chr10:21798241-21831215	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
23	esv3436763	chr10:21804771-21807819	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
24	esv3441326	chr10:21805146-21807294	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
25	esv3404318	chr10:21805546-21806744	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21797400-21806600	Active TSS	Fetal Brain Female	brain
2	chr10:21801000-21809200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:21802000-21806600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:21802800-21807000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:21803200-21809200	Active TSS	Colon Smooth Muscle	Colon
6	chr10:21803400-21808200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:21803600-21808000	Active TSS	Fetal Lung	lung
8	chr10:21803600-21808600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
9	chr10:21804000-21806800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
10	chr10:21804000-21809600	Active TSS	Right Ventricle	heart
11	chr10:21804200-21806400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
12	chr10:21804200-21809400	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr10:21804200-21809400	Active TSS	Left Ventricle	heart
14	chr10:21804400-21808000	Active TSS	Brain Substantia Nigra	brain
15	chr10:21804400-21808000	Active TSS	Fetal Kidney	kidney
16	chr10:21804400-21808200	Active TSS	Placenta Amnion	Placenta Amnion
17	chr10:21804400-21809400	Active TSS	Brain Cingulate Gyrus	brain
18	chr10:21804400-21809600	Active TSS	Ovary	ovary
19	chr10:21804600-21806400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr10:21804600-21809600	Active TSS	Brain Germinal Matrix	brain
21	chr10:21804800-21806800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr10:21804800-21807600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:21804800-21808000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:21804800-21808200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr10:21804800-21808400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr10:21804800-21809600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr10:21805000-21806400	Active TSS	Stomach Smooth Muscle	stomach
28	chr10:21805000-21806600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr10:21805000-21806600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr10:21805000-21806600	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr10:21805000-21806600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr10:21805000-21806600	Active TSS	HSMM	muscle
33	chr10:21805000-21806600	Active TSS	NH-A	brain
34	chr10:21805000-21807000	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr10:21805000-21807000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr10:21805000-21808000	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr10:21805000-21808000	Active TSS	Fetal Stomach	stomach
38	chr10:21805000-21808200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:21805000-21809400	Active TSS	Brain Angular Gyrus	brain
40	chr10:21805000-21809400	Active TSS	Brain Anterior Caudate	brain
41	chr10:21805000-21809400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr10:21805000-21809600	Active TSS	Aorta	Aorta
43	chr10:21805000-21809600	Active TSS	NHDF-Ad	bronchial
44	chr10:21805200-21806400	Active TSS	HepG2	liver
45	chr10:21805200-21806600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:21805200-21806600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:21805200-21806600	Active TSS	Gastric	stomach
48	chr10:21805200-21806600	Active TSS	Hela-S3	cervix
49	chr10:21805200-21806800	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr10:21805200-21806800	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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