Variant report

Variant	rs8043855
Chromosome Location	chr16:81122861-81122862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81113713..81115509-chr16:81122432..81124488,3	K562	blood:
2	chr16:81119022..81121896-chr16:81122018..81124342,2	K562	blood:
3	chr16:81104177..81106310-chr16:81122487..81125294,2	K562	blood:
4	chr16:81116747..81118686-chr16:81121475..81123225,2	K562	blood:
5	chr16:81109459..81113813-chr16:81119137..81125158,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261838	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000260643	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10459871	1.00[CEU][hapmap]
rs10459872	1.00[CEU][hapmap]
rs1048194	0.89[CEU][hapmap];1.00[MEX][hapmap]
rs10514512	1.00[CEU][hapmap]
rs10514513	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs10514514	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs10514515	1.00[CEU][hapmap]
rs11537	1.00[CEU][hapmap]
rs11866124	0.90[CEU][hapmap];0.93[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12443549	1.00[CEU][hapmap]
rs12444137	1.00[CEU][hapmap]
rs12444747	0.89[CEU][hapmap]
rs12444974	0.90[CEU][hapmap];0.93[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12445303	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs12448806	0.81[EUR][1000 genomes]
rs12456	0.89[CEU][hapmap];1.00[MEX][hapmap]
rs12921900	0.85[CHD][hapmap]
rs12927239	0.89[CEU][hapmap];0.88[TSI][hapmap]
rs12928648	0.86[CHD][hapmap]
rs12929250	0.86[CHD][hapmap]
rs13185	0.90[CEU][hapmap]
rs13861	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs1414	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs1563072	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs1563075	1.00[CEU][hapmap]
rs16954505	0.89[CEU][hapmap];0.93[CHD][hapmap];0.84[EUR][1000 genomes]
rs16954513	0.89[CEU][hapmap]
rs16954572	1.00[CEU][hapmap]
rs16954582	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs2278021	0.86[CHD][hapmap]
rs2278022	0.89[CEU][hapmap]
rs2278024	1.00[CEU][hapmap]
rs2316730	0.89[CEU][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes]
rs2316731	0.86[CEU][hapmap]
rs2317087	0.81[EUR][1000 genomes]
rs2549891	1.00[CEU][hapmap]
rs2549896	1.00[CEU][hapmap]
rs2549899	0.81[CEU][hapmap]
rs2602402	1.00[CEU][hapmap]
rs2602407	1.00[CEU][hapmap]
rs2970076	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs2970077	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs4324141	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs4454990	0.89[CEU][hapmap]
rs4889225	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs4889229	0.89[EUR][1000 genomes]
rs4889230	0.89[EUR][1000 genomes]
rs4889233	0.90[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5023849	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5023850	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5023852	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56198248	0.82[EUR][1000 genomes]
rs56286107	0.81[EUR][1000 genomes]
rs59022620	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60303302	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6420419	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6420421	0.90[CEU][hapmap];0.93[CHD][hapmap];0.87[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6564819	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7185637	0.90[EUR][1000 genomes]
rs7200400	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[ASN][1000 genomes]
rs7203546	0.89[EUR][1000 genomes]
rs7204040	1.00[CEU][hapmap]
rs7206814	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs73597252	0.82[EUR][1000 genomes]
rs754428	0.86[ASN][1000 genomes]
rs754429	1.00[CEU][hapmap]
rs8047495	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs804885	1.00[CEU][hapmap]
rs804895	0.90[CEU][hapmap]
rs804902	1.00[CEU][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs8050720	0.86[AMR][1000 genomes]
rs8052415	0.81[EUR][1000 genomes]
rs8052490	1.00[CEU][hapmap]
rs8052694	0.85[EUR][1000 genomes]
rs8056972	1.00[CEU][hapmap]
rs8059692	0.90[CEU][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs8177876	0.82[EUR][1000 genomes]
rs8177878	0.86[CHD][hapmap]
rs8177879	1.00[GIH][hapmap]
rs8177940	1.00[CEU][hapmap]
rs8177957	1.00[CEU][hapmap]
rs8177959	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs874437	0.82[EUR][1000 genomes]
rs935942	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs9923732	1.00[CEU][hapmap]
rs9925940	1.00[CEU][hapmap]
rs9925943	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs9926174	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs9929586	1.00[CEU][hapmap]
rs9933184	1.00[CEU][hapmap];0.87[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv530715	chr16:81117168-81252875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv907005	chr16:81121353-81194912	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs8043855	GCSH	cis	Muscle Skeletal	GTEx
rs8043855	BM039	cis	multi-tissue	Pritchard
rs8043855	DC13	cis	multi-tissue	Pritchard
rs8043855	LOC100329108	cis	lymphoblastoid	seeQTL
rs8043855	ATMIN	cis	Muscle Skeletal	GTEx
rs8043855	GCSH	cis	lymphoblastoid	seeQTL
rs8043855	GCSH	cis	brain	seeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81111400-81128200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr16:81111400-81128400	Weak transcription	Aorta	Aorta
3	chr16:81111400-81128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:81111400-81128800	Weak transcription	Psoas Muscle	Psoas
5	chr16:81111400-81128800	Weak transcription	NHDF-Ad	bronchial
6	chr16:81111400-81129000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:81111400-81129000	Weak transcription	Gastric	stomach
8	chr16:81111400-81129200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr16:81111600-81123000	Weak transcription	Primary T cells from cord blood	blood
10	chr16:81111600-81123000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr16:81111600-81123000	Weak transcription	HMEC	breast
12	chr16:81111600-81123200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr16:81111600-81123200	Weak transcription	Placenta	Placenta
14	chr16:81111600-81125600	Weak transcription	GM12878-XiMat	blood
15	chr16:81111600-81127800	Weak transcription	Brain Substantia Nigra	brain
16	chr16:81111600-81128000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr16:81111600-81128200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:81111600-81128200	Weak transcription	Brain Hippocampus Middle	brain
19	chr16:81111600-81128200	Weak transcription	NH-A	brain
20	chr16:81111600-81128400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:81111600-81128400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:81111600-81128400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:81111600-81128400	Weak transcription	Brain Anterior Caudate	brain
24	chr16:81111600-81128400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr16:81111600-81128400	Weak transcription	HSMM	muscle
26	chr16:81111600-81128600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr16:81111600-81128600	Weak transcription	Fetal Kidney	kidney
28	chr16:81111600-81128600	Weak transcription	Pancreas	Pancrea
29	chr16:81111600-81128800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:81111600-81128800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:81111600-81128800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr16:81111600-81128800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr16:81111600-81128800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr16:81111600-81128800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:81111600-81128800	Weak transcription	Colon Smooth Muscle	Colon
36	chr16:81111600-81128800	Weak transcription	Fetal Brain Female	brain
37	chr16:81111600-81128800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr16:81111600-81128800	Weak transcription	Right Atrium	heart
39	chr16:81111600-81128800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr16:81111600-81128800	Weak transcription	HSMMtube	muscle
41	chr16:81111600-81128800	Weak transcription	Osteobl	bone
42	chr16:81111600-81129000	Weak transcription	Brain Germinal Matrix	brain
43	chr16:81111600-81129000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr16:81111600-81129200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:81111600-81129200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr16:81111600-81129200	Weak transcription	Left Ventricle	heart
47	chr16:81111800-81123000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr16:81111800-81128200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:81111800-81128200	Weak transcription	Primary B cells from cord blood	blood
50	chr16:81111800-81128800	Weak transcription	Fetal Brain Male	brain

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