Variant report

Variant	rs12187377
Chromosome Location	chr5:60567241-60567242
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60564842..60567352-chr5:60626995..60629601,2	K562	blood:
2	chr5:60562038..60564106-chr5:60564910..60567550,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130449	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10044683	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10070347	1.00[CEU][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10471269	1.00[CEU][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10471511	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10939896	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6869396	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6870703	0.82[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73103624	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9291719	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs9291720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription 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	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 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	chr5:60550400-60573400	Weak transcription	Gastric	stomach
2	chr5:60556000-60570200	Weak transcription	HSMM	muscle
3	chr5:60560000-60569200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:60560400-60569400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:60560600-60569000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:60560800-60571200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:60561000-60569000	Weak transcription	Brain Substantia Nigra	brain
8	chr5:60561000-60573200	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:60563000-60567400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:60564600-60570800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:60564600-60575400	Weak transcription	Fetal Intestine Small	intestine
12	chr5:60564600-60576000	Weak transcription	Psoas Muscle	Psoas
13	chr5:60565600-60570600	Weak transcription	HUVEC	blood vessel
14	chr5:60565800-60571000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:60565800-60571200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:60566000-60571200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:60566000-60573200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:60566200-60567800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:60566400-60567800	Enhancers	NHEK	skin
20	chr5:60566400-60573000	Weak transcription	Stomach Mucosa	stomach
21	chr5:60566600-60573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr5:60566800-60567600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:60567000-60568200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:60567000-60571000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:60567000-60571000	Weak transcription	Lung	lung
26	chr5:60567200-60568600	Weak transcription	Monocytes-CD14+_RO01746	blood

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