Variant report

Variant	rs734074
Chromosome Location	chr1:155218446-155218447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155218380..155222913-chr1:155290636..155299650,10	K562	blood:
2	chr1:155195364..155197876-chr1:155217568..155220600,3	K562	blood:
3	chr1:155211728..155215836-chr1:155216740..155219082,4	MCF-7	breast:
4	chr1:155217881..155219766-chr1:155287696..155289622,2	K562	blood:
5	chr1:155212931..155218657-chr1:155240962..155244485,5	MCF-7	breast:
6	chr1:155216184..155218791-chr1:155531995..155534588,3	MCF-7	breast:
7	chr1:155218380..155223571-chr1:155290636..155294325,6	K562	blood:

Variant related genes	Relation type
ENSG00000160753	Chromatin interaction
ENSG00000160752	Chromatin interaction
ENSG00000116539	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000177628	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1045253	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1046188	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1052176	0.88[ASN][1000 genomes]
rs1052177	0.88[ASN][1000 genomes]
rs1076556	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1078699	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10796940	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10796943	0.82[CHB][hapmap];0.81[TSI][hapmap]
rs10908459	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10908463	0.84[CHB][hapmap]
rs10908465	0.84[CHB][hapmap]
rs11264337	0.89[YRI][hapmap]
rs11264338	0.89[YRI][hapmap]
rs11264339	0.89[YRI][hapmap]
rs11264343	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11264345	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11264346	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11264347	0.89[EUR][1000 genomes]
rs11264348	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11264349	0.89[ASN][1000 genomes]
rs11264351	0.83[ASN][1000 genomes]
rs11264352	0.89[ASN][1000 genomes]
rs11264353	0.89[ASN][1000 genomes]
rs11264354	0.82[ASN][1000 genomes]
rs11264355	0.81[ASN][1000 genomes]
rs11264359	0.81[ASW][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.82[TSI][hapmap]
rs11264361	0.84[CHB][hapmap];0.87[TSI][hapmap]
rs11264367	0.84[CHB][hapmap]
rs11264369	0.84[CHB][hapmap]
rs11264371	0.84[CHB][hapmap]
rs11264372	0.84[CHB][hapmap]
rs1142287	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11577338	0.90[ASN][1000 genomes]
rs12026638	0.89[CHB][hapmap]
rs12034326	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12041534	0.84[CHB][hapmap]
rs12042020	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12044063	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12049375	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12067675	0.84[ASN][1000 genomes]
rs12239114	0.84[CHB][hapmap];0.82[TSI][hapmap]
rs12407919	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12563994	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12723761	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12724449	0.89[ASN][1000 genomes]
rs12730000	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12748155	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12749306	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1325908	0.84[CHB][hapmap]
rs1546818	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1800438	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1800442	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1807042	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2009578	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2049805	0.85[AFR][1000 genomes]
rs2066981	0.89[LWK][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes]
rs2071053	0.88[ASN][1000 genomes]
rs2072647	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2075566	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2075569	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2075570	0.82[AFR][1000 genomes]
rs2236863	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2236864	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2242576	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2242577	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2297480	0.95[CHB][hapmap];0.89[CHD][hapmap];0.92[JPT][hapmap];0.87[TSI][hapmap]
rs2361536	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2361543	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28373017	0.84[ASN][1000 genomes]
rs28445596	0.84[AFR][1000 genomes]
rs28595322	0.81[ASN][1000 genomes]
rs2974929	0.83[AFR][1000 genomes]
rs2974930	0.84[AFR][1000 genomes]
rs2974931	0.83[AFR][1000 genomes]
rs2974935	0.82[AFR][1000 genomes]
rs2974937	0.80[AFR][1000 genomes]
rs2990220	0.81[AFR][1000 genomes]
rs2990245	0.83[AFR][1000 genomes]
rs34906309	0.85[ASN][1000 genomes]
rs3754485	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3762272	0.80[ASN][1000 genomes]
rs3768566	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3814318	0.86[ASN][1000 genomes]
rs3814319	0.86[ASN][1000 genomes]
rs4043	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4072037	0.86[YRI][hapmap]
rs4421576	0.89[YRI][hapmap]
rs4460629	0.86[YRI][hapmap]
rs4620533	0.88[ASN][1000 genomes]
rs4971079	0.86[YRI][hapmap]
rs4971085	0.89[YRI][hapmap]
rs4971088	0.89[YRI][hapmap]
rs497829	0.85[AFR][1000 genomes]
rs5005770	0.84[CHB][hapmap]
rs56310840	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59352002	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs734073	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs741756	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7520184	0.90[ASN][1000 genomes]
rs7543234	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7549276	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7554780	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7556304	0.89[YRI][hapmap]
rs762488	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8177968	0.87[ASN][1000 genomes]
rs8847	0.88[ASN][1000 genomes]
rs914615	0.86[LWK][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes]
rs932972	0.88[ASN][1000 genomes]
rs9628662	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9729564	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer 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	469 gene(s)	inside rSNPs	diseases
3	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
4	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription 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	452 gene(s)	inside rSNPs	diseases
5	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
6	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
7	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
8	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
9	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
10	esv13606	chr1:155180489-155221243	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
11	nsv1008748	chr1:155189148-155230610	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
12	nsv1011773	chr1:155189148-155234821	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
13	nsv947198	chr1:155206997-155226440	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases
14	esv1832331	chr1:155213136-155271366	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
15	esv1826485	chr1:155214478-155264270	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic 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	48 gene(s)	inside rSNPs	diseases
16	esv1824971	chr1:155215985-155260869	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs734074	GBAP1	cis	Thyroid	GTEx
rs734074	RIT1	cis	cerebellum	SCAN
rs734074	BIRC6	trans	parietal	SCAN
rs734074	GBAP1	cis	Artery Tibial	GTEx
rs734074	LCE1C	cis	parietal	SCAN
rs734074	THEM5	cis	parietal	SCAN
rs734074	RIT1	Cis_1M	lymphoblastoid	RTeQTL
rs734074	RP11-263K19.4	cis	Whole Blood	GTEx
rs734074	THBS3	cis	Whole Blood	GTEx
rs734074	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs734074	CRNN	cis	cerebellum	SCAN
rs734074	YY1AP1	cis	cerebellum	SCAN
rs734074	LAMTOR2	cis	lymphoblastoid	seeQTL
rs734074	GBA	cis	Esophagus Mucosa	GTEx
rs734074	GBAP1	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155215000-155220200	Weak transcription	Small Intestine	intestine
2	chr1:155215200-155219800	Weak transcription	Primary B cells from cord blood	blood
3	chr1:155215200-155219800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:155215200-155219800	Weak transcription	Primary T cells from cord blood	blood
5	chr1:155215200-155219800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:155215200-155219800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:155215200-155219800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:155215200-155219800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:155215200-155219800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:155215200-155219800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:155215200-155219800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:155215200-155219800	Weak transcription	GM12878-XiMat	blood
13	chr1:155215200-155219800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:155215200-155220000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:155215200-155220000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:155215200-155220000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:155215200-155220000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:155215200-155220000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:155215200-155220000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:155215200-155220000	Weak transcription	Pancreas	Pancrea
21	chr1:155215200-155220200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:155215200-155220200	Weak transcription	Adipose Nuclei	Adipose
23	chr1:155215200-155220200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:155215200-155220200	Weak transcription	HMEC	breast
25	chr1:155215200-155220400	Weak transcription	Liver	Liver
26	chr1:155215200-155220400	Weak transcription	Left Ventricle	heart
27	chr1:155215200-155220400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:155215200-155220400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:155215200-155220400	Weak transcription	Right Atrium	heart
30	chr1:155215200-155220400	Weak transcription	Stomach Mucosa	stomach
31	chr1:155215200-155220400	Weak transcription	HSMM	muscle
32	chr1:155215200-155220800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:155215200-155220800	Weak transcription	Hela-S3	cervix
34	chr1:155215200-155224000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:155215400-155219800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:155215400-155219800	Weak transcription	Fetal Thymus	thymus
37	chr1:155215600-155219800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr1:155215600-155219800	Weak transcription	Fetal Brain Male	brain
39	chr1:155216000-155219000	Strong transcription	Fetal Muscle Leg	muscle
40	chr1:155216000-155220400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:155216200-155218800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:155216200-155219000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:155216200-155219000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:155216200-155219000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:155216200-155219000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:155216200-155219200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:155216200-155219200	Strong transcription	Osteobl	bone
48	chr1:155216200-155220000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:155216200-155220000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:155216200-155220000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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