Variant report

Variant	rs7203578
Chromosome Location	chr16:70758855-70758856
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	chr16:70758547..70760441-chr16:70762170..70763955,2	K562	blood:
2	chr16:70747879..70752178-chr16:70754716..70759017,5	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12149236	0.88[ASN][1000 genomes]
rs16970484	0.93[CEU][hapmap]
rs16970513	0.93[CEU][hapmap]
rs17248914	0.93[CEU][hapmap];0.83[TSI][hapmap]
rs17307409	1.00[JPT][hapmap]
rs2290614	0.93[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.94[ASN][1000 genomes]
rs2902830	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs3743988	0.86[CEU][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3760118	0.93[CEU][hapmap]
rs3785421	0.97[ASN][1000 genomes]
rs4985364	1.00[CEU][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs4985423	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985425	0.85[EUR][1000 genomes]
rs60028268	0.94[ASN][1000 genomes]
rs6499335	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[ASN][1000 genomes]
rs71401831	0.85[EUR][1000 genomes]
rs7185187	0.90[CHB][hapmap];0.81[CHD][hapmap];0.97[ASN][1000 genomes]
rs7185921	0.93[CEU][hapmap]
rs7188712	0.85[CEU][hapmap]
rs7190561	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7194091	0.93[CEU][hapmap];0.83[TSI][hapmap]
rs7202363	0.86[CEU][hapmap]
rs7205738	0.86[ASN][1000 genomes]
rs8052615	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs8060947	1.00[CEU][hapmap]
rs9931380	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs9939763	1.00[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
5	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	nsv906889	chr16:70724001-70790831	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv906890	chr16:70740707-70790831	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7203578	TPPP3	cis	parietal	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70727000-70770800	Weak transcription	GM12878-XiMat	blood
2	chr16:70733200-70759400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr16:70749800-70759000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:70749800-70759600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr16:70750200-70759000	Weak transcription	Esophagus	oesophagus
6	chr16:70750200-70759600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:70750400-70759600	Weak transcription	NHEK	skin
8	chr16:70750400-70764800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr16:70750400-70767000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr16:70750600-70759400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:70750600-70766600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr16:70750800-70771800	Weak transcription	A549	lung
13	chr16:70751000-70759400	Weak transcription	HSMM	muscle
14	chr16:70752600-70770800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr16:70753200-70766400	Strong transcription	Primary T cells from cord blood	blood
16	chr16:70753400-70767200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr16:70753800-70761600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr16:70753800-70764800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr16:70754000-70759000	Weak transcription	Brain Substantia Nigra	brain
20	chr16:70754000-70759600	Weak transcription	Fetal Kidney	kidney
21	chr16:70754200-70759000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:70754200-70759200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:70754200-70761800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr16:70754200-70768800	Weak transcription	Osteobl	bone
25	chr16:70754400-70764800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:70754400-70776600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:70754400-70780000	Weak transcription	Hela-S3	cervix
28	chr16:70754600-70759000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr16:70754600-70759000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr16:70754600-70759600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr16:70754600-70760400	Strong transcription	Spleen	Spleen
32	chr16:70754600-70761600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr16:70754600-70761600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr16:70754600-70761800	Weak transcription	Aorta	Aorta
35	chr16:70754600-70764800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr16:70754800-70759000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr16:70754800-70764800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr16:70755000-70759800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr16:70755200-70769600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr16:70755600-70774200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr16:70755800-70759000	Weak transcription	Adipose Nuclei	Adipose
42	chr16:70755800-70759400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr16:70755800-70761800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr16:70755800-70772000	Weak transcription	Small Intestine	intestine
45	chr16:70756000-70760600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr16:70756000-70762200	Weak transcription	Dnd41	blood
47	chr16:70756200-70759000	Weak transcription	Fetal Brain Female	brain
48	chr16:70756200-70759200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr16:70756200-70759600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:70756200-70760600	Weak transcription	Primary T cells fromperipheralblood	blood

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