Variant report

Variant	rs11150604
Chromosome Location	chr16:31037020-31037021
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31035621..31039590-chr16:31042058..31045187,5	K562	blood:
2	chr16:31035543..31037477-chr16:31083304..31086043,4	K562	blood:
3	chr16:31035953..31038692-chr16:31042517..31044556,3	MCF-7	breast:
4	chr16:31035261..31037378-chr16:31084081..31086422,2	K562	blood:
5	chr16:31035739..31039592-chr16:31042123..31045685,6	K562	blood:
6	chr16:31035557..31037095-chr16:31190482..31192976,2	MCF-7	breast:
7	chr16:31036111..31038797-chr16:31087110..31088802,2	K562	blood:
8	chr16:31035248..31037260-chr16:31189598..31191683,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167394	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000103496	Chromatin interaction

Extended variants
information (count: 146 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs1046276	1.00[JPT][hapmap]
rs1060506	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10782001	0.89[JPT][hapmap]
rs10782002	0.89[JPT][hapmap]
rs10871454	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11076	0.88[JPT][hapmap]
rs1108431	1.00[ASN][1000 genomes]
rs11150599	0.88[JPT][hapmap]
rs11150600	0.89[JPT][hapmap]
rs11150601	0.89[JPT][hapmap]
rs11640534	0.89[JPT][hapmap]
rs11640767	0.98[ASN][1000 genomes]
rs11640957	0.98[ASN][1000 genomes]
rs11640961	0.87[CEU][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap]
rs11642192	0.87[ASN][1000 genomes]
rs11647284	0.89[ASN][1000 genomes]
rs11647442	0.84[ASN][1000 genomes]
rs11649653	0.94[GIH][hapmap];1.00[JPT][hapmap]
rs11862744	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11864806	0.89[ASN][1000 genomes]
rs11864839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11865038	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11865499	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12102776	0.92[CHD][hapmap]
rs12445568	1.00[CHB][hapmap]
rs12445650	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12448321	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12597511	0.96[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.81[TSI][hapmap];0.82[ASN][1000 genomes]
rs12716981	0.84[ASN][1000 genomes]
rs12716982	0.84[ASN][1000 genomes]
rs12924903	1.00[JPT][hapmap]
rs12926295	0.88[JPT][hapmap]
rs12928852	0.89[JPT][hapmap]
rs12931046	0.89[JPT][hapmap]
rs12934418	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13708	0.89[JPT][hapmap]
rs14235	1.00[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.85[TSI][hapmap];0.84[ASN][1000 genomes]
rs1458201	0.89[JPT][hapmap]
rs1458202	0.89[JPT][hapmap]
rs1549293	1.00[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.84[ASN][1000 genomes]
rs17839567	1.00[ASN][1000 genomes]
rs17839568	0.89[ASN][1000 genomes]
rs17882368	1.00[YRI][hapmap]
rs1870293	0.89[JPT][hapmap]
rs1978485	0.84[ASN][1000 genomes]
rs1978487	1.00[CEU][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2032915	1.00[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.84[ASN][1000 genomes]
rs2054213	0.89[JPT][hapmap]
rs2288004	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303222	1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2303223	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2305880	0.89[JPT][hapmap]
rs2305884	0.89[JPT][hapmap]
rs2359612	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2855475	0.87[CEU][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.84[ASN][1000 genomes]
rs28725459	0.81[ASN][1000 genomes]
rs28814987	0.89[ASN][1000 genomes]
rs2884738	0.84[ASN][1000 genomes]
rs34649473	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34898535	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35351013	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35468353	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs35675346	1.00[JPT][hapmap]
rs35713203	0.89[ASN][1000 genomes]
rs3751855	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4468641	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4527034	1.00[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.84[ASN][1000 genomes]
rs4889525	0.89[JPT][hapmap]
rs4889530	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4889599	0.89[JPT][hapmap]
rs4889603	0.84[CEU][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs4889604	0.89[JPT][hapmap]
rs4889606	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap]
rs4889609	1.00[JPT][hapmap]
rs4889620	0.84[ASN][1000 genomes]
rs4889651	0.88[JPT][hapmap]
rs4889653	0.88[JPT][hapmap]
rs55766044	0.84[ASN][1000 genomes]
rs55979739	1.00[ASN][1000 genomes]
rs56284083	1.00[ASN][1000 genomes]
rs56314408	0.84[ASN][1000 genomes]
rs56813533	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57434408	0.93[ASN][1000 genomes]
rs58726213	0.98[ASN][1000 genomes]
rs59061704	0.98[ASN][1000 genomes]
rs59735493	0.84[ASN][1000 genomes]
rs60996860	0.81[ASN][1000 genomes]
rs61162043	0.89[ASN][1000 genomes]
rs61320757	0.84[ASN][1000 genomes]
rs6565217	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6950	0.89[JPT][hapmap]
rs7187995	0.82[ASN][1000 genomes]
rs7196161	0.89[ASN][1000 genomes]
rs7196726	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7197717	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7199949	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7200879	1.00[JPT][hapmap]
rs7203999	1.00[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap]
rs7204459	0.89[JPT][hapmap]
rs7206511	0.89[JPT][hapmap]
rs7294	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs729482	1.00[JPT][hapmap]
rs732172	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs732173	1.00[ASN][1000 genomes]
rs73530203	0.87[ASN][1000 genomes]
rs749670	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs749671	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs749767	1.00[CEU][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7500176	1.00[ASN][1000 genomes]
rs750952	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8046707	0.97[GIH][hapmap];0.89[JPT][hapmap]
rs8047803	0.89[ASN][1000 genomes]
rs8050588	0.89[JPT][hapmap]
rs8050894	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8056842	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8060857	0.89[JPT][hapmap]
rs8061047	0.82[ASN][1000 genomes]
rs8062719	0.89[JPT][hapmap]
rs8063565	0.88[JPT][hapmap]
rs881929	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs889548	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.84[ASN][1000 genomes]
rs889555	0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs897986	0.89[JPT][hapmap]
rs9923231	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9925964	1.00[CEU][hapmap];0.84[ASN][1000 genomes]
rs9926533	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs9929899	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9933843	0.88[JPT][hapmap]
rs9934438	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9936329	1.00[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.84[ASN][1000 genomes]
rs9939417	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939558	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972727	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
6	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
7	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
8	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
9	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
10	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
11	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
12	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
13	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs11150604	HSD3B7	cis	Whole Blood	GTEx
rs11150604	AHSP	cis	parietal	SCAN
rs11150604	MYST1	cis	cerebellum	SCAN
rs11150604	RP11-196G11.2	cis	Muscle Skeletal	GTEx
rs11150604	STX1B	cis	cerebellum	SCAN
rs11150604	NCRNA00095	cis	cerebellum	SCAN
rs11150604	ZNF668	cis	multi-tissue	Pritchard
rs11150604	MYST1	cis	parietal	SCAN
rs11150604	YPEL3	cis	cerebellum	SCAN
rs11150604	BCKDK	cis	multi-tissue	Pritchard
rs11150604	ZNF668	cis	cerebellum	SCAN
rs11150604	KAT8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31027600-31041600	Weak transcription	Spleen	Spleen
2	chr16:31027800-31043600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:31032200-31044000	Weak transcription	Ovary	ovary
4	chr16:31034400-31043600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr16:31034800-31043200	Weak transcription	Fetal Muscle Leg	muscle
6	chr16:31035400-31043600	Weak transcription	Fetal Intestine Small	intestine
7	chr16:31035600-31037200	Weak transcription	Gastric	stomach
8	chr16:31036800-31037200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:31036800-31037200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr16:31036800-31037200	Enhancers	Adipose Nuclei	Adipose
11	chr16:31036800-31037200	Enhancers	Osteobl	bone
12	chr16:31036800-31037400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr16:31036800-31037400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:31036800-31037600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:31036800-31037600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr16:31036800-31037800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr16:31036800-31038000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:31037000-31037200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:31037000-31037400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:31037000-31037400	Enhancers	A549	lung
21	chr16:31037000-31037600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr16:31037000-31037600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr16:31037000-31037600	Enhancers	NH-A	brain
24	chr16:31037000-31037800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:31037000-31037800	Flanking Active TSS	HepG2	liver
26	chr16:31037000-31037800	Enhancers	K562	blood

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