Variant report

Variant	rs4965238
Chromosome Location	chr15:99996562-99996563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:99995946..99998218-chr15:100024533..100026194,2	K562	blood:
2	chr15:99979674..99981771-chr15:99994725..99997256,2	K562	blood:
3	chr15:99994489..99997462-chr15:100005822..100007589,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1867094	0.83[CEU][hapmap]
rs4965240	0.85[EUR][1000 genomes]
rs7167309	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7167860	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv1050527	chr15:99983054-100035436	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99986800-99996600	Enhancers	Fetal Muscle Leg	muscle
2	chr15:99988000-99996600	Enhancers	Left Ventricle	heart
3	chr15:99990800-99996600	Enhancers	Right Atrium	heart
4	chr15:99991400-99996800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr15:99993400-99996600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr15:99993600-99997000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:99994600-99996600	Enhancers	Ovary	ovary
8	chr15:99995000-100001000	Weak transcription	Aorta	Aorta
9	chr15:99995800-99996600	Enhancers	Hela-S3	cervix
10	chr15:99995800-99997200	Weak transcription	Right Ventricle	heart
11	chr15:99995800-99997200	Enhancers	NH-A	brain
12	chr15:99995800-99997400	Enhancers	HSMMtube	muscle
13	chr15:99995800-99997400	Enhancers	Osteobl	bone
14	chr15:99995800-100000800	Weak transcription	Esophagus	oesophagus
15	chr15:99995800-100001000	Weak transcription	Colonic Mucosa	Colon
16	chr15:99996000-99996600	Bivalent Enhancer	Placenta	Placenta
17	chr15:99996000-99996600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr15:99996000-99999000	Weak transcription	Stomach Mucosa	stomach
19	chr15:99996200-99997400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:99996200-99998200	Enhancers	Fetal Heart	heart
21	chr15:99996200-100000800	Weak transcription	Spleen	Spleen
22	chr15:99996200-100001000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:99996400-100000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:99996400-100000800	Weak transcription	Lung	lung
25	chr15:99996400-100001000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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