Variant report

Variant	rs34768551
Chromosome Location	chr1:46020408-46020409
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46015708..46018405-chr1:46018570..46020723,2	MCF-7	breast:
2	chr1:46012797..46020877-chr1:46047985..46055272,23	K562	blood:
3	chr1:45985569..45992282-chr1:46014173..46025125,38	MCF-7	breast:
4	chr1:45982342..45989534-chr1:46006947..46020678,57	K562	blood:
5	chr1:46013953..46018760-chr1:46019151..46024741,9	K562	blood:
6	chr1:45984572..45987422-chr1:46019368..46021467,2	K562	blood:
7	chr1:46015251..46018245-chr1:46018589..46025048,8	MCF-7	breast:
8	chr1:45477292..45479954-chr1:46019204..46021384,2	K562	blood:
9	chr1:46019905..46021465-chr1:46027471..46029207,2	K562	blood:
10	chr1:46013953..46019415-chr1:46020167..46024741,10	K562	blood:
11	chr1:46020234..46023064-chr1:46033814..46036863,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117450	Chromatin interaction
ENSG00000117448	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000126088	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11211137	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211139	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12049503	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12077621	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2883968	0.80[EUR][1000 genomes]
rs34673142	0.83[EUR][1000 genomes]
rs3790585	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4633317	0.83[EUR][1000 genomes]
rs5015340	0.83[EUR][1000 genomes]
rs61788356	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs666720	0.84[ASN][1000 genomes]
rs713358	0.83[EUR][1000 genomes]
rs868351	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9727262	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]

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	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS 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	191 gene(s)	inside rSNPs	diseases
2	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
4	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
5	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
6	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS 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	232 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs34768551	MUTYH	Cis_1M	lymphoblastoid	RTeQTL
rs34768551	TESK2	cis	Whole Blood	GTEx
rs34768551	MMACHC	cis	multi-tissue	Pritchard
rs34768551	C2orf49	trans	lymphoblastoid	RTeQTL
rs34768551	PRDX1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46017000-46025800	Weak transcription	Spleen	Spleen
2	chr1:46017400-46023000	Weak transcription	Psoas Muscle	Psoas
3	chr1:46017400-46027000	Weak transcription	Aorta	Aorta
4	chr1:46017400-46027400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:46017800-46021400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:46017800-46023000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:46017800-46023000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:46017800-46026800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:46017800-46026800	Weak transcription	Brain Substantia Nigra	brain
10	chr1:46017800-46026800	Weak transcription	HSMMtube	muscle
11	chr1:46017800-46027200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:46017800-46027400	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:46017800-46027400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:46017800-46027400	Weak transcription	Gastric	stomach
15	chr1:46017800-46032200	Weak transcription	Brain Anterior Caudate	brain
16	chr1:46017800-46038800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:46018000-46021400	Weak transcription	Thymus	Thymus
18	chr1:46018000-46021400	Weak transcription	HSMM	muscle
19	chr1:46018000-46027400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:46018000-46032200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:46018000-46038600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:46018200-46022000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:46018200-46022200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:46018200-46023000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:46018200-46037400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:46018400-46020800	Genic enhancers	Fetal Intestine Small	intestine
27	chr1:46018400-46021200	Weak transcription	Brain Germinal Matrix	brain
28	chr1:46018400-46021400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:46018400-46021400	Weak transcription	NH-A	brain
30	chr1:46018400-46022000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:46018400-46022000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:46018400-46022000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:46018400-46022000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:46018400-46022000	Strong transcription	K562	blood
35	chr1:46018400-46022200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:46018400-46022400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:46018400-46022800	Weak transcription	Fetal Heart	heart
38	chr1:46018400-46023000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:46018400-46023000	Weak transcription	Right Atrium	heart
40	chr1:46018400-46023000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:46018400-46023000	Weak transcription	Small Intestine	intestine
42	chr1:46018400-46024800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:46018400-46025600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:46018400-46025800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:46018400-46026600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:46018400-46026600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:46018400-46026800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:46018400-46026800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:46018400-46027200	Weak transcription	Fetal Lung	lung
50	chr1:46018400-46027400	Weak transcription	Colon Smooth Muscle	Colon

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