Variant report

Variant	rs2462336
Chromosome Location	chr7:101365461-101365462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101365013..101367690-chr7:101372321..101375439,3	MCF-7	breast:
2	chr7:101364262..101367929-chr7:101368962..101372975,5	MCF-7	breast:
3	chr7:101363569..101367486-chr7:101367567..101371455,4	MCF-7	breast:
4	chr7:101360823..101364160-chr7:101364363..101367581,3	K562	blood:
5	chr7:101361354..101363333-chr7:101364363..101366054,2	K562	blood:
6	chr7:101363858..101366308-chr7:101375999..101378907,2	K562	blood:
7	chr7:101360591..101363401-chr7:101364095..101366139,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10259235	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11772063	0.83[AFR][1000 genomes]
rs1965519	0.82[ASN][1000 genomes]
rs2246401	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2529239	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529240	0.83[ASN][1000 genomes]
rs2529241	0.83[ASN][1000 genomes]
rs2690887	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2690888	0.98[ASN][1000 genomes]
rs2690952	0.97[ASN][1000 genomes]
rs9649235	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1018544	chr7:101225639-101424889	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv539045	chr7:101225639-101424889	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv482758	chr7:101231458-101395219	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101332000-101376800	Weak transcription	Right Atrium	heart
2	chr7:101360600-101365600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:101360600-101365600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:101360600-101366600	Enhancers	Fetal Intestine Large	intestine
5	chr7:101363800-101365800	Weak transcription	Fetal Intestine Small	intestine
6	chr7:101364200-101369000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr7:101364800-101365600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:101364800-101382400	Weak transcription	Thymus	Thymus
9	chr7:101365200-101366000	Bivalent Enhancer	Fetal Stomach	stomach
10	chr7:101365200-101366400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:101365400-101365800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:101365400-101365800	Enhancers	Fetal Brain Male	brain
13	chr7:101365400-101365800	Active TSS	Rectal Smooth Muscle	rectum
14	chr7:101365400-101366000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:101365400-101366000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:101365400-101366000	Enhancers	Colonic Mucosa	Colon
17	chr7:101365400-101366000	Enhancers	Lung	lung
18	chr7:101365400-101366000	Enhancers	Ovary	ovary
19	chr7:101365400-101366200	Enhancers	Placenta	Placenta
20	chr7:101365400-101366400	Flanking Active TSS	Stomach Smooth Muscle	stomach

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