Variant report

Variant	rs3108165
Chromosome Location	chr2:74416780-74416781
allele	A/G
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	POLR2A	chr2:74416718-74416840	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:74404339..74407086-chr2:74413819..74418331,4	MCF-7	breast:
2	chr2:74373118..74375990-chr2:74413723..74417487,4	K562	blood:
3	chr2:74373118..74375990-chr2:74414793..74417487,2	K562	blood:
4	chr2:74414483..74421164-chr2:74423918..74427310,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267958	TF binding region
ENSG00000225439	Chromatin interaction
ENSG00000114978	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000163170	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1056528	0.82[EUR][1000 genomes]
rs1095966	0.87[EUR][1000 genomes]
rs1095967	0.86[EUR][1000 genomes]
rs12469365	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1667600	0.87[EUR][1000 genomes]
rs1667610	0.84[EUR][1000 genomes]
rs1667627	0.84[EUR][1000 genomes]
rs4630794	0.84[EUR][1000 genomes]
rs828852	0.83[EUR][1000 genomes]
rs828860	0.86[EUR][1000 genomes]
rs828861	0.86[EUR][1000 genomes]
rs828887	0.81[EUR][1000 genomes]
rs828891	0.84[EUR][1000 genomes]
rs828893	0.84[EUR][1000 genomes]
rs844169	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats 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	140 gene(s)	inside rSNPs	diseases
3	nsv834261	chr2:74391709-74613720	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 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	chr2:74409200-74419800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:74413200-74417600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:74414000-74417200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr2:74414600-74416800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:74414800-74417000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:74415600-74418400	Weak transcription	Pancreas	Pancrea
7	chr2:74415600-74418800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:74415600-74419000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:74415600-74419000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:74415600-74419200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:74415600-74419400	Weak transcription	K562	blood
12	chr2:74415600-74425200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:74415600-74425200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:74415800-74416800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:74415800-74417000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:74415800-74418200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:74415800-74418800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:74415800-74418800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:74415800-74418800	Weak transcription	HepG2	liver
20	chr2:74415800-74419000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:74415800-74419400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:74415800-74419600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:74416200-74417000	Weak transcription	HMEC	breast
24	chr2:74416200-74417000	Weak transcription	NHEK	skin
25	chr2:74416600-74416800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:74416600-74416800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:74416600-74416800	Enhancers	Hela-S3	cervix

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