Variant report

Variant	rs16941771
Chromosome Location	chr17:45340357-45340358
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	POLR2A	chr17:45339823-45340742	HUVEC	blood vessel:	n/a	n/a
2	SMC3	chr17:45340078-45340369	GM12878	blood:	n/a	n/a
3	POU2F2	chr17:45340276-45340678	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45312410..45314597-chr17:45339201..45341519,2	K562	blood:
2	chr17:45339119..45341339-chr17:45349037..45350870,2	K562	blood:

Variant related genes	Relation type
RNU7-186P	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11079771	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11867192	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs11867253	0.87[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs11867589	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11869439	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11869487	1.00[CEU][hapmap]
rs11869768	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11869835	0.87[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs11870334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11870781	0.84[JPT][hapmap]
rs11870948	1.00[CEU][hapmap]
rs11871031	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11871477	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12051664	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12051702	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12051709	1.00[CEU][hapmap]
rs12051795	1.00[CEU][hapmap]
rs12162128	1.00[EUR][1000 genomes]
rs16941751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16941855	0.87[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs16941861	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs1878067	0.87[CHB][hapmap]
rs2292700	0.81[CHB][hapmap]
rs2317676	0.87[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs3785870	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3785873	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs41304764	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5919	0.81[CHB][hapmap]
rs5921	1.00[LWK][hapmap]
rs8073229	0.81[CHB][hapmap]
rs8077375	0.82[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16941771	PIP4K2B	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45333200-45344600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr17:45334000-45345800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr17:45335600-45340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:45335600-45343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr17:45335800-45341200	Weak transcription	HSMMtube	muscle
6	chr17:45335800-45342600	Weak transcription	NHLF	lung
7	chr17:45335800-45343200	Weak transcription	Right Atrium	heart
8	chr17:45335800-45343600	Weak transcription	Aorta	Aorta
9	chr17:45336000-45346800	Weak transcription	Fetal Heart	heart
10	chr17:45336200-45342000	Weak transcription	HSMM	muscle
11	chr17:45336200-45342600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:45336200-45343400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:45336400-45341000	Weak transcription	K562	blood
14	chr17:45336400-45341400	Weak transcription	NHDF-Ad	bronchial
15	chr17:45336400-45342600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:45336400-45342800	Weak transcription	NH-A	brain
17	chr17:45336400-45342800	Weak transcription	Osteobl	bone
18	chr17:45337200-45342000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:45338000-45352200	Weak transcription	Fetal Muscle Leg	muscle
20	chr17:45338800-45340400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr17:45338800-45340400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr17:45339200-45341600	Enhancers	HUVEC	blood vessel
23	chr17:45339400-45340600	Enhancers	Colon Smooth Muscle	Colon
24	chr17:45339400-45345000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:45339600-45340600	Enhancers	Spleen	Spleen
26	chr17:45339600-45341400	Enhancers	GM12878-XiMat	blood
27	chr17:45339800-45343200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr17:45340000-45340400	Enhancers	Adipose Nuclei	Adipose
29	chr17:45340000-45340600	Enhancers	Left Ventricle	heart
30	chr17:45340000-45340600	Enhancers	Rectal Smooth Muscle	rectum
31	chr17:45340000-45340800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:45340200-45340600	Enhancers	Primary B cells from peripheral blood	blood
33	chr17:45340200-45342800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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