Variant report

Variant	rs3760118
Chromosome Location	chr16:70799409-70799410
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70717557..70720196-chr16:70797703..70800969,4	MCF-7	breast:
2	chr16:70788136..70795022-chr16:70796102..70799906,6	K562	blood:
3	chr16:70718955..70720982-chr16:70799190..70800969,2	MCF-7	breast:
4	chr16:70797754..70799490-chr16:70801547..70803992,2	MCF-7	breast:
5	chr16:70711781..70713993-chr16:70797275..70799515,2	K562	blood:
6	chr16:70711781..70713399-chr16:70797275..70800123,2	K562	blood:
7	chr16:70771729..70774154-chr16:70798370..70800004,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214353	Chromatin interaction
ENSG00000132613	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1009285	0.96[ASN][1000 genomes]
rs11863319	0.82[ASN][1000 genomes]
rs11864614	0.91[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs11866379	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12920588	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12924064	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12926985	0.84[ASN][1000 genomes]
rs12928270	0.85[ASN][1000 genomes]
rs12929374	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12934723	0.84[ASN][1000 genomes]
rs12935645	0.84[ASN][1000 genomes]
rs13335758	0.85[ASN][1000 genomes]
rs1551528	0.92[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1551529	0.92[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16970484	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16970513	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17248914	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2290614	1.00[CEU][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs28676580	0.96[ASN][1000 genomes]
rs2902830	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs34268521	0.93[ASN][1000 genomes]
rs35144432	0.89[ASN][1000 genomes]
rs35426120	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35665975	0.96[ASN][1000 genomes]
rs3743988	0.93[CEU][hapmap];0.92[MEX][hapmap]
rs3855651	0.93[ASN][1000 genomes]
rs4985364	0.93[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4985423	0.93[CEU][hapmap];0.84[MEX][hapmap]
rs4985425	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs52826576	0.96[ASN][1000 genomes]
rs60190856	0.85[ASN][1000 genomes]
rs6499335	1.00[CEU][hapmap]
rs6499336	0.86[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs713511	0.85[ASN][1000 genomes]
rs71384769	0.85[ASN][1000 genomes]
rs71401831	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7185921	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7188712	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7194091	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[GIH][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7196225	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7202363	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7203578	0.93[CEU][hapmap]
rs74024449	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8044133	0.84[ASN][1000 genomes]
rs8052615	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs8060947	0.93[CEU][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9931380	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
5	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	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
rs3760118	TPPP3	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70772600-70813400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr16:70773000-70805600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr16:70773000-70815800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:70773400-70816200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr16:70781200-70826800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr16:70781800-70815000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr16:70785000-70814200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:70785000-70814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:70785000-70825000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr16:70785600-70813000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr16:70785800-70828000	Strong transcription	Primary T cells from cord blood	blood
12	chr16:70786600-70815200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr16:70786800-70803200	Strong transcription	Thymus	Thymus
14	chr16:70786800-70815000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr16:70788000-70801200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr16:70788000-70826600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr16:70788400-70802000	Weak transcription	Psoas Muscle	Psoas
18	chr16:70788600-70800400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr16:70788600-70803600	Strong transcription	Spleen	Spleen
20	chr16:70789400-70804200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr16:70789600-70800800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr16:70789600-70810400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:70789800-70801000	Strong transcription	Lung	lung
24	chr16:70789800-70804600	Weak transcription	Fetal Heart	heart
25	chr16:70790000-70801200	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr16:70790000-70801200	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr16:70790800-70804000	Strong transcription	Stomach Smooth Muscle	stomach
28	chr16:70794200-70803600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr16:70794400-70801200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr16:70794600-70804800	Weak transcription	Brain Angular Gyrus	brain
31	chr16:70794600-70814200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr16:70794600-70816400	Weak transcription	Small Intestine	intestine
33	chr16:70794800-70804400	Weak transcription	K562	blood
34	chr16:70794800-70804800	Weak transcription	HUVEC	blood vessel
35	chr16:70795200-70804400	Weak transcription	GM12878-XiMat	blood
36	chr16:70795400-70800400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr16:70795400-70800800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:70795400-70801000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr16:70795400-70802000	Weak transcription	HMEC	breast
40	chr16:70795600-70799800	Strong transcription	Esophagus	oesophagus
41	chr16:70795600-70800400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr16:70795600-70804200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr16:70795600-70808000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr16:70795600-70809200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr16:70795800-70801200	Strong transcription	Brain Germinal Matrix	brain
46	chr16:70795800-70801200	Strong transcription	Fetal Stomach	stomach
47	chr16:70795800-70801400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:70795800-70802000	Weak transcription	Stomach Mucosa	stomach
49	chr16:70795800-70804200	Strong transcription	HepG2	liver
50	chr16:70795800-70814400	Weak transcription	Placenta Amnion	Placenta Amnion

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