Variant report

Variant	rs6919534
Chromosome Location	chr6:35246903-35246904
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11552398	1.00[GIH][hapmap]
rs1194	0.83[ASW][hapmap];0.81[CEU][hapmap];0.84[MKK][hapmap];0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs13216424	0.88[GIH][hapmap]
rs16871749	1.00[GIH][hapmap]
rs16871814	1.00[GIH][hapmap]
rs1888823	0.83[ASW][hapmap];0.81[CEU][hapmap];0.85[MKK][hapmap];0.90[YRI][hapmap]
rs1929846	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1929847	0.81[CEU][hapmap];0.81[MKK][hapmap];0.86[YRI][hapmap]
rs1929848	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1929849	0.81[CEU][hapmap];0.81[MKK][hapmap];0.86[YRI][hapmap]
rs2234044	1.00[GIH][hapmap]
rs2267658	0.80[AFR][1000 genomes]
rs2267662	0.83[ASW][hapmap];0.81[CEU][hapmap];0.84[MKK][hapmap];0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs2395617	1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756856	1.00[GIH][hapmap]
rs3800392	0.81[CEU][hapmap];0.86[YRI][hapmap]
rs4711414	0.81[EUR][1000 genomes]
rs4713842	0.82[MEX][hapmap]
rs4713843	0.82[MEX][hapmap]
rs4713844	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457815	1.00[CHB][hapmap]
rs6902523	0.81[CEU][hapmap];0.86[YRI][hapmap];0.81[EUR][1000 genomes]
rs6906666	1.00[GIH][hapmap]
rs6931442	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937124	1.00[CHB][hapmap]
rs707969	1.00[MEX][hapmap]
rs729925	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734538	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs763155	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs763157	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751726	1.00[CHB][hapmap]
rs7767150	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7770619	1.00[CHB][hapmap]
rs7772212	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9296144	0.80[CEU][hapmap];0.90[YRI][hapmap]
rs9380500	0.83[YRI][hapmap]
rs9380501	0.81[CEU][hapmap];0.89[YRI][hapmap]
rs9394282	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462081	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9658077	1.00[CHB][hapmap]
rs9658081	1.00[CHB][hapmap]
rs9658085	1.00[CHB][hapmap]
rs9658089	1.00[CHD][hapmap]
rs9658118	1.00[CHD][hapmap]
rs9658119	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs9658136	1.00[CHD][hapmap]
rs9658151	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs975496	0.81[CEU][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs991145	0.81[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	esv2758047	chr6:35168116-35291002	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv2759419	chr6:35168116-35291002	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6919534	TULP1	cis	cerebellum	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35228400-35247800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:35228400-35248000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:35228400-35250200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:35228600-35248400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:35228600-35248800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:35228600-35253200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:35228800-35248800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:35228800-35248800	Weak transcription	Spleen	Spleen
9	chr6:35228800-35249000	Weak transcription	Fetal Intestine Large	intestine
10	chr6:35228800-35249000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:35228800-35251400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:35229000-35248800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:35229000-35248800	Weak transcription	Thymus	Thymus
14	chr6:35229000-35249000	Weak transcription	Liver	Liver
15	chr6:35229000-35250400	Weak transcription	Fetal Brain Male	brain
16	chr6:35229200-35248800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr6:35229200-35248800	Weak transcription	Dnd41	blood
18	chr6:35229200-35250200	Weak transcription	Pancreas	Pancrea
19	chr6:35231200-35248400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr6:35232200-35248600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr6:35232200-35248800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr6:35232400-35248800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr6:35232400-35250200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:35232600-35248400	Weak transcription	Fetal Lung	lung
25	chr6:35232600-35265200	Weak transcription	Stomach Mucosa	stomach
26	chr6:35232800-35248800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr6:35232800-35248800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:35232800-35249000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr6:35233600-35248800	Weak transcription	Primary B cells from cord blood	blood
30	chr6:35233800-35258400	Weak transcription	Small Intestine	intestine
31	chr6:35236200-35248800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr6:35236200-35248800	Weak transcription	GM12878-XiMat	blood
33	chr6:35236400-35249000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:35237600-35248600	Weak transcription	Fetal Thymus	thymus
35	chr6:35237800-35253400	Weak transcription	Gastric	stomach
36	chr6:35237800-35264800	Weak transcription	K562	blood
37	chr6:35239000-35248800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr6:35240400-35248800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:35240600-35248600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr6:35242400-35248800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr6:35242400-35248800	Weak transcription	Fetal Intestine Small	intestine
42	chr6:35242600-35248800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:35243200-35248400	Weak transcription	NHDF-Ad	bronchial
44	chr6:35243200-35250000	Weak transcription	HSMMtube	muscle
45	chr6:35243200-35250200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:35243400-35248400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:35243400-35248400	Weak transcription	Lung	lung
48	chr6:35243400-35248400	Weak transcription	Right Atrium	heart
49	chr6:35243400-35248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:35243400-35248800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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