Variant report

Variant	rs12616547
Chromosome Location	chr2:60322674-60322675
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:60320080..60322877-chr2:60336027..60338394,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17030159	0.84[AMR][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	nsv869086	chr2:59684680-60676096	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv931913	chr2:60026285-61006476	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1002745	chr2:60292007-60364139	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv2747	chr2:60322494-60367802	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:60318000-60323200	Enhancers	Fetal Intestine Small	intestine
2	chr2:60318200-60323200	Enhancers	Fetal Intestine Large	intestine
3	chr2:60318200-60323200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr2:60318200-60323200	Enhancers	Stomach Mucosa	stomach
5	chr2:60318400-60322800	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr2:60318400-60323000	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:60319400-60325200	Enhancers	Thymus	Thymus
8	chr2:60319400-60326400	Weak transcription	HSMM	muscle
9	chr2:60320800-60333800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:60321200-60323400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:60321200-60325000	Enhancers	Dnd41	blood
12	chr2:60321200-60328400	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:60321400-60322800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:60321600-60324000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:60321600-60324600	Enhancers	Pancreas	Pancrea
16	chr2:60321800-60323800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:60322200-60323800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:60322400-60322800	Flanking Active TSS	Fetal Thymus	thymus
19	chr2:60322600-60324200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:60322600-60324400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr2:60322600-60324600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:60322600-60324800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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