Variant report

Variant	rs872683
Chromosome Location	chr2:64590446-64590447
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64583701..64585384-chr2:64588386..64591287,2	MCF-7	breast:
2	chr2:64585285..64586792-chr2:64588668..64591328,2	MCF-7	breast:
3	chr2:64586292..64588331-chr2:64589357..64592036,2	K562	blood:
4	chr2:64588315..64590489-chr2:64680621..64682875,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119862	Chromatin interaction
ENSG00000223935	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12469413	0.83[CHD][hapmap]
rs12477412	0.91[CHD][hapmap]
rs17690928	1.00[CEU][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes]
rs73934462	0.90[EUR][1000 genomes]
rs73934466	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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 miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv874238	chr2:64575738-64614241	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64586000-64591200	Enhancers	Esophagus	oesophagus
2	chr2:64586000-64591400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:64586400-64591000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:64586600-64592800	Enhancers	Pancreas	Pancrea
5	chr2:64586800-64591000	Enhancers	Placenta	Placenta
6	chr2:64587200-64590800	Enhancers	Stomach Mucosa	stomach
7	chr2:64587200-64591400	Enhancers	HMEC	breast
8	chr2:64587400-64591600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:64587400-64591800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:64587400-64593800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:64587600-64590600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:64587600-64590800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:64587600-64590800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:64587600-64591200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:64587600-64591800	Enhancers	NHEK	skin
16	chr2:64587600-64595000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:64587600-64595200	Weak transcription	Right Atrium	heart
18	chr2:64587800-64591000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:64588000-64591200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:64588800-64590600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:64589000-64590800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:64589000-64591200	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:64589000-64591800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:64589400-64590800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:64589600-64590600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:64589800-64594400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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