Variant report

Variant	rs61023892
Chromosome Location	chr2:74415866-74415867
allele	C/T
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	SRF	chr2:74415238-74415898	HCT-116	colon:	n/a	n/a
2	TCF12	chr2:74415186-74415964	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr2:74415275-74416009	SK-N-SH	brain:	n/a	n/a
4	MAFF	chr2:74415849-74416158	K562	blood:	n/a	chr2:74416015-74416033 chr2:74416021-74416035

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:
5	chr2:74410706..74412513-chr2:74413665..74416302,2	K562	blood:

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

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56067994	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56370917	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57421736	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6715861	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6737355	0.83[AFR][1000 genomes]
rs6749199	1.00[EUR][1000 genomes]
rs73948705	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73948708	0.94[AFR][1000 genomes]
rs73952061	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73952063	1.00[EUR][1000 genomes]
rs7562660	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7598273	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:30 , 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	chr2:74414400-74416000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:74414600-74416200	Enhancers	HMEC	breast
6	chr2:74414600-74416800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:74414800-74417000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:74415600-74416600	Weak transcription	Hela-S3	cervix
9	chr2:74415600-74418400	Weak transcription	Pancreas	Pancrea
10	chr2:74415600-74418800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:74415600-74419000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:74415600-74419000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:74415600-74419200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:74415600-74419400	Weak transcription	K562	blood
15	chr2:74415600-74425200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:74415600-74425200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:74415800-74416000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:74415800-74416000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:74415800-74416000	Weak transcription	Fetal Thymus	thymus
20	chr2:74415800-74416200	Enhancers	NHEK	skin
21	chr2:74415800-74416600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:74415800-74416800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:74415800-74417000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:74415800-74418200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:74415800-74418800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:74415800-74418800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:74415800-74418800	Weak transcription	HepG2	liver
28	chr2:74415800-74419000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:74415800-74419400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:74415800-74419600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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