Variant report

Variant	rs34983797
Chromosome Location	chr7:65443014-65443015
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:65442526-65443015	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65441240..65443607-chr7:65444690..65447035,2	MCF-7	breast:
2	chr7:65439784..65442429-chr7:65442521..65444614,2	MCF-7	breast:

Variant related genes	Relation type
GUSB	TF binding region
ENSG00000169919	Chromatin interaction

Extended variants
information (count: 158 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs1039664	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1061361	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1134256	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11538349	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1167613	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1177514	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12698508	0.96[ASN][1000 genomes]
rs12698509	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12698511	0.94[ASN][1000 genomes]
rs13220979	0.82[ASN][1000 genomes]
rs13226598	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13228133	0.85[ASN][1000 genomes]
rs13233662	0.88[ASN][1000 genomes]
rs13236109	0.88[ASN][1000 genomes]
rs13246608	0.86[ASN][1000 genomes]
rs13247184	0.90[ASN][1000 genomes]
rs160653	0.83[ASN][1000 genomes]
rs160655	0.83[ASN][1000 genomes]
rs1626926	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1701745	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1701750	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1701758	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1701759	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1715235	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1723265	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1723266	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1723267	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1723269	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1723270	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1723272	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs188765	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1964692	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2177703	0.94[ASN][1000 genomes]
rs2456483	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2462569	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2658583	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2949697	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2961102	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3105600	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs313798	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs313799	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs313800	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs313801	0.84[ASN][1000 genomes]
rs313802	0.84[ASN][1000 genomes]
rs313803	0.84[ASN][1000 genomes]
rs313807	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs313808	0.93[ASN][1000 genomes]
rs313809	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs313813	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs313814	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34136756	0.94[ASN][1000 genomes]
rs34193460	0.94[ASN][1000 genomes]
rs34529418	0.96[ASN][1000 genomes]
rs34560516	0.96[ASN][1000 genomes]
rs34577383	0.94[ASN][1000 genomes]
rs34586068	0.92[ASN][1000 genomes]
rs34628538	0.92[ASN][1000 genomes]
rs34637256	0.90[ASN][1000 genomes]
rs34804747	0.96[ASN][1000 genomes]
rs34933526	0.94[ASN][1000 genomes]
rs34970380	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34974928	0.90[ASN][1000 genomes]
rs35046236	0.96[ASN][1000 genomes]
rs35058610	0.93[ASN][1000 genomes]
rs35087093	0.96[ASN][1000 genomes]
rs35257008	0.88[ASN][1000 genomes]
rs35260440	0.95[ASN][1000 genomes]
rs35268390	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35283677	0.90[ASN][1000 genomes]
rs35310401	0.94[ASN][1000 genomes]
rs35391607	0.90[ASN][1000 genomes]
rs35396113	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35421653	0.90[ASN][1000 genomes]
rs35432774	0.94[ASN][1000 genomes]
rs35480979	0.90[ASN][1000 genomes]
rs35542501	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35663341	0.88[ASN][1000 genomes]
rs35679560	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35689884	0.90[ASN][1000 genomes]
rs35820085	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs36004293	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs36033484	0.94[ASN][1000 genomes]
rs36068983	0.96[ASN][1000 genomes]
rs36084489	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs392355	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs402418	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs403089	0.84[ASN][1000 genomes]
rs423187	0.86[ASN][1000 genomes]
rs427044	0.90[ASN][1000 genomes]
rs431168	0.89[ASN][1000 genomes]
rs431318	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs437889	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs448377	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs451396	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs458291	0.82[ASN][1000 genomes]
rs466983	0.84[ASN][1000 genomes]
rs55700941	0.94[ASN][1000 genomes]
rs55876148	0.94[ASN][1000 genomes]
rs55886244	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs55895244	0.94[ASN][1000 genomes]
rs55909123	0.87[ASN][1000 genomes]
rs56016656	0.94[ASN][1000 genomes]
rs56133509	0.88[ASN][1000 genomes]
rs56171161	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56291018	0.93[ASN][1000 genomes]
rs56955188	0.94[ASN][1000 genomes]
rs56985706	0.94[ASN][1000 genomes]
rs57057549	0.96[ASN][1000 genomes]
rs57126451	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58062456	0.90[ASN][1000 genomes]
rs58207111	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58330502	0.94[ASN][1000 genomes]
rs59794892	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59820001	0.93[ASN][1000 genomes]
rs59966766	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60683927	0.93[ASN][1000 genomes]
rs67728539	0.94[ASN][1000 genomes]
rs68189316	0.96[ASN][1000 genomes]
rs6949812	0.92[ASN][1000 genomes]
rs6970243	0.94[ASN][1000 genomes]
rs709607	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs71564939	0.90[ASN][1000 genomes]
rs73142137	0.85[ASN][1000 genomes]
rs73142162	0.94[ASN][1000 genomes]
rs73142166	0.94[ASN][1000 genomes]
rs73148097	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73150014	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73150016	0.96[ASN][1000 genomes]
rs7794661	0.94[ASN][1000 genomes]
rs7795242	0.94[ASN][1000 genomes]
rs7806717	0.94[ASN][1000 genomes]
rs781141	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs781142	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs781149	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs781150	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs781153	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs781154	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs781155	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs781156	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs781157	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs906134	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs937108	0.83[AMR][1000 genomes];0.96[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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1020337	chr7:65371505-65449654	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
4	nsv1025494	chr7:65402301-65515606	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538906	chr7:65402301-65515606	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv888321	chr7:65408904-65449541	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv9823	chr7:65413362-65468020	Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3426468	chr7:65413488-65462982	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3433491	chr7:65414034-65463477	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv1028971	chr7:65414064-65457437	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv888322	chr7:65415647-65466565	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv538907	chr7:65417400-65456089	Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv888323	chr7:65418355-65461080	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv888324	chr7:65418876-65466565	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	nsv981505	chr7:65428348-65445874	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv971390	chr7:65441078-65445874	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34983797	GUSB	cis	Whole Blood	GTEx
rs34983797	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs34983797	VKORC1L1	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65417800-65445400	Weak transcription	Fetal Heart	heart
2	chr7:65418000-65445400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:65418400-65445200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:65418800-65444000	Strong transcription	Dnd41	blood
5	chr7:65418800-65445200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:65418800-65445400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:65418800-65445600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:65418800-65446000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:65419000-65445200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr7:65419000-65445400	Strong transcription	Fetal Thymus	thymus
11	chr7:65419000-65445400	Strong transcription	Thymus	Thymus
12	chr7:65419200-65445200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:65419400-65445200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:65419600-65444800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr7:65419800-65445400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:65420200-65445200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:65422400-65444800	Strong transcription	Brain Germinal Matrix	brain
18	chr7:65422400-65445600	Weak transcription	Right Atrium	heart
19	chr7:65423000-65444800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr7:65423000-65445600	Strong transcription	Fetal Intestine Large	intestine
21	chr7:65423600-65445000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:65423600-65445400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:65423600-65445400	Strong transcription	Fetal Muscle Leg	muscle
24	chr7:65423800-65445400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:65424000-65444400	Strong transcription	Fetal Stomach	stomach
26	chr7:65424000-65445400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:65424000-65445600	Strong transcription	Fetal Intestine Small	intestine
28	chr7:65424000-65445800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:65424600-65445200	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:65427000-65445400	Strong transcription	Brain Hippocampus Middle	brain
31	chr7:65427400-65443800	Strong transcription	Spleen	Spleen
32	chr7:65429000-65445400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:65429400-65445400	Weak transcription	HSMM	muscle
34	chr7:65430000-65444600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:65430600-65444400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:65430800-65445400	Weak transcription	NHDF-Ad	bronchial
37	chr7:65432200-65444600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:65432200-65445600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:65432200-65445600	Weak transcription	NH-A	brain
40	chr7:65433000-65445400	Weak transcription	Stomach Mucosa	stomach
41	chr7:65434600-65445600	Weak transcription	Fetal Kidney	kidney
42	chr7:65436400-65445400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr7:65438400-65446000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:65439000-65445600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:65439400-65443800	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:65439600-65444000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:65439600-65445200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:65439600-65446200	Weak transcription	Psoas Muscle	Psoas
49	chr7:65439800-65445400	Weak transcription	Fetal Brain Male	brain
50	chr7:65440000-65444000	Weak transcription	Primary B cells from cord blood	blood

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