Variant report

Variant	rs6767918
Chromosome Location	chr3:150872205-150872206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150865647..150868615-chr3:150871045..150873818,2	K562	blood:
2	chr3:150869768..150872209-chr3:150929310..150930894,2	K562	blood:
3	chr3:150871697..150875423-chr3:150878155..150880928,3	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1003246	0.87[EUR][1000 genomes]
rs1005726	0.94[CEU][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs10755104	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10935825	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10935827	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10935828	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11914598	0.89[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11919212	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12489984	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13434276	0.89[ASN][1000 genomes]
rs1346943	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1431492	0.86[EUR][1000 genomes]
rs1431493	0.87[EUR][1000 genomes]
rs16863172	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1835668	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1897296	0.89[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1920392	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.81[LWK][hapmap];0.84[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2014240	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2060081	0.94[CEU][hapmap];0.82[GIH][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs28690162	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3773615	0.94[CEU][hapmap];0.82[GIH][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3915228	1.00[CEU][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs61184267	0.87[EUR][1000 genomes]
rs6414377	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6440721	0.82[EUR][1000 genomes]
rs6765294	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs6765711	0.82[JPT][hapmap]
rs6772640	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6780053	0.85[MEX][hapmap]
rs6780120	0.87[EUR][1000 genomes]
rs6787683	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6790661	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6800064	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6801591	0.87[EUR][1000 genomes]
rs6809388	0.89[CEU][hapmap]
rs6809705	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs7427471	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs747205	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7633492	0.85[EUR][1000 genomes]
rs7645665	1.00[CEU][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs9289832	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs965843	0.83[ASN][1000 genomes]
rs9683109	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs970235	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9813224	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9822304	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9823077	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs9829728	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs9848163	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9850016	0.91[ASN][1000 genomes]
rs9876500	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs9883677	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829756	chr3:150692636-150889738	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2757897	chr3:150791625-150957485	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv2759188	chr3:150791625-150957485	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv877648	chr3:150792444-150895145	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6767918	CLRN1	cis	parietal	SCAN
rs6767918	DHX36	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150827400-150873000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:150861400-150872600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:150861800-150872600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:150862800-150873000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:150862800-150873600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:150863200-150889000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:150863800-150873000	Weak transcription	Fetal Brain Male	brain
8	chr3:150864200-150872800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:150864200-150874400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:150864400-150873000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:150864600-150873800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:150864800-150872600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:150864800-150873200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:150865000-150886400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:150868800-150887400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:150870800-150873000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:150870800-150873600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:150871000-150874200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr3:150871200-150873600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:150871200-150888400	Weak transcription	Fetal Intestine Small	intestine
21	chr3:150871400-150873000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:150872200-150874800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:150872200-150881800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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