Variant report

Variant	rs2717260
Chromosome Location	chr3:118976791-118976792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118975620..118977787-chr3:118996347..118998850,2	K562	blood:
2	chr3:118959042..118961700-chr3:118975117..118977642,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121578	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2594732	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2717265	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4687993	0.88[CEU][hapmap]
rs7620780	0.82[CEU][hapmap]
rs7622994	0.82[CEU][hapmap]
rs7625392	0.82[CEU][hapmap]
rs7640033	0.88[CEU][hapmap]
rs9837492	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr3:118974800-118977800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr3:118975000-118979600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:118975200-118978000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:118975600-118977600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:118975600-118977800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:118975600-118978200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:118976000-118977200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:118976000-118977600	Enhancers	NHEK	skin
9	chr3:118976000-118978400	Enhancers	Stomach Mucosa	stomach
10	chr3:118976000-118978800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr3:118976000-118979400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:118976200-118976800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr3:118976200-118977200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:118976200-118977200	Enhancers	Colonic Mucosa	Colon
15	chr3:118976200-118977200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr3:118976200-118979200	Enhancers	Placenta	Placenta
17	chr3:118976400-118977400	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr3:118976400-118977600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:118976400-118977800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:118976400-118978200	Enhancers	Fetal Heart	heart
21	chr3:118976400-118979800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:118976400-118979800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:118976600-118977000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:118976600-118978400	Enhancers	Primary B cells from peripheral blood	blood
25	chr3:118976600-118978400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr3:118976600-118978600	Enhancers	Primary monocytes fromperipheralblood	blood

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