Variant report

Variant	rs72776071
Chromosome Location	chr10:6060966-6060967
allele	A/C
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	BRCA1	chr10:6060651-6061479	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:6059382..6061395-chr10:6068804..6071571,2	MCF-7	breast:
2	chr10:6059419..6064322-chr10:6065224..6067534,4	K562	blood:
3	chr10:6060947..6063701-chr10:6181512..6183483,2	K562	blood:

Variant related genes	Relation type
ENSG00000251922	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12722492	0.84[AMR][1000 genomes]
rs12722494	0.86[AMR][1000 genomes]
rs12722498	0.82[AMR][1000 genomes]
rs12722503	0.88[AMR][1000 genomes]
rs12722528	0.87[AMR][1000 genomes]
rs12722608	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17421433	0.80[AMR][1000 genomes]
rs1924137	0.84[AMR][1000 genomes]
rs2228149	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294647	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41294685	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294927	0.84[AMR][1000 genomes]
rs41294935	0.80[AMR][1000 genomes]
rs41295051	0.80[AMR][1000 genomes]
rs62626316	0.80[AMR][1000 genomes]
rs62626324	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv3349435	chr10:6059346-6062944	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv525927	chr10:6059898-6078079	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6056200-6061000	Weak transcription	K562	blood
2	chr10:6057000-6066000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr10:6057400-6068600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr10:6057600-6062800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr10:6057800-6064400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr10:6057800-6069600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr10:6057800-6069800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr10:6058000-6068600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:6058400-6062800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr10:6058600-6063200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:6059400-6061000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr10:6059400-6063000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:6059400-6068800	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr10:6059800-6061000	Enhancers	Stomach Mucosa	stomach
15	chr10:6060000-6061200	Enhancers	Spleen	Spleen
16	chr10:6060000-6065600	Weak transcription	Esophagus	oesophagus
17	chr10:6060200-6061000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr10:6060400-6061200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
19	chr10:6060400-6062000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr10:6060400-6063200	Weak transcription	Colonic Mucosa	Colon
21	chr10:6060400-6070000	Weak transcription	Lung	lung
22	chr10:6060600-6061800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:6060600-6062200	Weak transcription	Fetal Muscle Leg	muscle
24	chr10:6060600-6063000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr10:6060800-6061800	Weak transcription	Placenta	Placenta
26	chr10:6060800-6064400	Weak transcription	Right Atrium	heart
27	chr10:6060800-6075800	Weak transcription	Colon Smooth Muscle	Colon

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