Variant report

Variant	rs768474
Chromosome Location	chr11:33640104-33640105
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:33639712..33641762-chr11:33643100..33644997,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1033543	1.00[ASW][hapmap];0.80[CEU][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap]
rs1073655	1.00[ASW][hapmap];0.90[CEU][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs10742300	1.00[ASW][hapmap];0.87[MEX][hapmap]
rs10768013	0.85[CEU][hapmap]
rs10836087	0.82[EUR][1000 genomes]
rs1474782	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755750	0.88[CHB][hapmap];0.82[CHD][hapmap]
rs4755765	0.87[MEX][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs4755766	0.83[EUR][1000 genomes]
rs4755767	0.83[EUR][1000 genomes]
rs4755769	0.83[EUR][1000 genomes]
rs4755771	0.83[MEX][hapmap];0.81[TSI][hapmap]
rs7117579	1.00[ASW][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap]
rs7949170	1.00[ASW][hapmap];0.90[CEU][hapmap];0.91[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1050944	chr11:33043155-33656273	Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv540993	chr11:33043155-33656273	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529212	chr11:33053073-33641691	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv869418	chr11:33053073-33662479	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv832112	chr11:33469782-33683052	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs768474	PAMR1	cis	parietal	SCAN
rs768474	C11orf41	cis	cerebellum	SCAN
rs768474	QSER1	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33594600-33644000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:33605800-33642400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:33606600-33642000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:33620200-33640200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:33627200-33643400	Weak transcription	HSMMtube	muscle
6	chr11:33628800-33642400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:33630000-33641600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:33632800-33642400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:33633800-33652400	Weak transcription	Fetal Brain Female	brain
10	chr11:33634600-33643800	Weak transcription	HUVEC	blood vessel
11	chr11:33635000-33644800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:33635800-33641800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:33638200-33641400	Weak transcription	NHEK	skin
14	chr11:33638200-33641600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:33638200-33641600	Weak transcription	NHDF-Ad	bronchial
16	chr11:33638600-33641400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:33638800-33640600	Enhancers	Brain Germinal Matrix	brain
18	chr11:33638800-33641000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:33638800-33641600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:33638800-33644800	Enhancers	HMEC	breast
21	chr11:33639000-33640800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:33639000-33643000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:33639200-33640200	Enhancers	Brain Angular Gyrus	brain
24	chr11:33639200-33641800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:33639400-33640200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr11:33639400-33640200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:33639400-33640800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr11:33639400-33641000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr11:33639600-33640200	Weak transcription	Brain Substantia Nigra	brain
30	chr11:33639600-33640200	Enhancers	Fetal Brain Male	brain
31	chr11:33639600-33640600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr11:33639600-33640600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr11:33639600-33641000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:33639800-33640200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr11:33639800-33640200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr11:33639800-33640400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr11:33639800-33640800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:33639800-33641000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr11:33639800-33642000	Weak transcription	NH-A	brain
40	chr11:33639800-33642000	Weak transcription	Osteobl	bone
41	chr11:33639800-33642400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:33639800-33642600	Weak transcription	HSMM	muscle
43	chr11:33640000-33640600	Active TSS	Brain Hippocampus Middle	brain
44	chr11:33640000-33641600	Weak transcription	Brain Anterior Caudate	brain
45	chr11:33640000-33642200	Active TSS	Brain Inferior Temporal Lobe	brain

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