Variant report

Variant	rs7177212
Chromosome Location	chr15:34425414-34425415
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	chr15:34420038..34421927-chr15:34425295..34427888,2	K562	blood:
2	chr15:34419776..34421652-chr15:34425219..34427967,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10162803	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10162842	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072967	1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4779658	1.00[ASN][1000 genomes]
rs4780220	1.00[ASN][1000 genomes]
rs7166135	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175784	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177389	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177391	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177536	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177585	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73376108	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043268	1.00[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	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1035579	chr15:34363159-34501115	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs7177212	UPK1B	trans	brain	seeQTL
rs7177212	KLF5	trans	brain	seeQTL
rs7177212	COCH	trans	brain	seeQTL
rs7177212	FGL2	trans	brain	seeQTL
rs7177212	ABI3BP	trans	brain	seeQTL
rs7177212	KLK1	trans	brain	seeQTL
rs7177212	TNFRSF11B	trans	brain	seeQTL
rs7177212	OMD	trans	brain	seeQTL
rs7177212	TMEM100	trans	brain	seeQTL
rs7177212	SFRP2	trans	brain	seeQTL
rs7177212	PTGDR	trans	brain	seeQTL
rs7177212	PDGFRL	trans	brain	seeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34414400-34426400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr15:34415400-34434600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:34415600-34429200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:34415600-34431400	Weak transcription	NH-A	brain
5	chr15:34415600-34432800	Weak transcription	Osteobl	bone
6	chr15:34415800-34432800	Weak transcription	NHDF-Ad	bronchial
7	chr15:34416200-34439200	Weak transcription	HUVEC	blood vessel
8	chr15:34417600-34431400	Weak transcription	HSMMtube	muscle
9	chr15:34417600-34439400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr15:34417800-34436800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:34419200-34431200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:34419400-34429200	Weak transcription	Placenta	Placenta
13	chr15:34419400-34429800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:34419400-34430600	Weak transcription	HMEC	breast
15	chr15:34419400-34434800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:34419400-34441800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:34419600-34426200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:34421800-34431600	Weak transcription	HSMM	muscle
19	chr15:34422000-34425800	Weak transcription	A549	lung
20	chr15:34422000-34429400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:34422000-34431400	Weak transcription	Primary T cells from cord blood	blood
22	chr15:34422600-34431000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:34423600-34430200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:34423600-34434600	Weak transcription	Left Ventricle	heart
25	chr15:34424400-34446400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:34424800-34431600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr15:34424800-34432400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr15:34425200-34425800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:34425200-34429600	Weak transcription	Adipose Nuclei	Adipose
30	chr15:34425200-34432400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr15:34425400-34429200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:34425400-34431400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:34425400-34438200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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