Variant report

Variant	rs2883968
Chromosome Location	chr1:45985860-45985861
allele	C/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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45804762..45807081-chr1:45985847..45987732,3	K562	blood:
2	chr1:45984510..45988941-chr1:46031540..46035902,8	MCF-7	breast:
3	chr1:45973182..45975128-chr1:45984664..45989019,3	MCF-7	breast:
4	chr1:45985173..45987673-chr1:46047489..46052049,5	MCF-7	breast:
5	chr1:45982342..45989534-chr1:46006947..46020678,57	K562	blood:
6	chr1:45975860..45989626-chr1:46030076..46041078,36	K562	blood:
7	chr1:45985760..45988673-chr3:181223417..181224917,2	K562	blood:
8	chr1:45283995..45285689-chr1:45985443..45988306,2	K562	blood:
9	chr1:45976870..45989534-chr1:46007918..46019226,54	K562	blood:
10	chr1:45984465..45989261-chr1:46150683..46156386,7	K562	blood:
11	chr1:45985569..45992282-chr1:46014173..46025125,38	MCF-7	breast:
12	chr1:45805652..45808329-chr1:45985496..45987569,2	K562	blood:
13	chr1:45982844..45990993-chr1:46030121..46038313,25	K562	blood:
14	chr1:45980210..45995142-chr1:46046095..46057139,89	K562	blood:
15	chr1:45974558..45995867-chr1:46046173..46057010,94	K562	blood:
16	chr1:45476953..45479637-chr1:45985604..45989189,5	K562	blood:
17	chr1:45239811..45242258-chr1:45985710..45988896,3	K562	blood:
18	chr1:43291298..43293447-chr1:45985281..45987482,2	K562	blood:
19	chr1:45770153..45772059-chr1:45985117..45987576,2	K562	blood:
20	chr1:45984460..45986056-chr1:46058706..46061606,2	K562	blood:
21	chr1:45985342..45989391-chr1:46011113..46019467,18	MCF-7	breast:
22	chr1:45982735..45988890-chr1:46031987..46038228,10	MCF-7	breast:
23	chr1:45969960..45972308-chr1:45985412..45987180,2	MCF-7	breast:
24	chr1:45984572..45987422-chr1:46019368..46021467,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117448	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000132763	Chromatin interaction
ENSG00000159596	Chromatin interaction
ENSG00000235294	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000264294	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10789464	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10890330	0.83[EUR][1000 genomes]
rs11211123	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211124	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211128	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11211139	0.80[EUR][1000 genomes]
rs12029322	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12042903	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12066142	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12067642	0.83[EUR][1000 genomes]
rs12077621	0.80[EUR][1000 genomes]
rs12564806	0.81[EUR][1000 genomes]
rs2055145	0.83[EUR][1000 genomes]
rs34673142	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34768551	0.80[EUR][1000 genomes]
rs3790583	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4633317	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4660863	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5015340	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55642258	0.83[EUR][1000 genomes]
rs61788285	0.83[EUR][1000 genomes]
rs61788336	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61788356	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67683090	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs713358	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs868351	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9727262	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9729395	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv1795802	chr1:45819489-46009818	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	esv1831217	chr1:45819489-46009818	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2883968	MUTYH	Cis_1M	lymphoblastoid	RTeQTL
rs2883968	PRDX1	cis	Thyroid	GTEx
rs2883968	C2orf49	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45981000-45986000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:45983200-45986000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:45983200-45986000	Weak transcription	Gastric	stomach
4	chr1:45983200-45986400	Weak transcription	Pancreas	Pancrea
5	chr1:45983600-45986000	Enhancers	Fetal Brain Male	brain
6	chr1:45983800-45986000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:45984400-45986000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:45984400-45986000	Enhancers	Primary B cells from cord blood	blood
9	chr1:45984400-45986000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:45984400-45986000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:45984400-45986000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:45984400-45986000	Enhancers	Fetal Lung	lung
13	chr1:45984400-45986000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:45984400-45986400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr1:45984600-45986000	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:45984600-45986000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:45984600-45986000	Enhancers	Fetal Muscle Leg	muscle
18	chr1:45984600-45986200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:45984600-45986200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:45984600-45987000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:45984800-45986000	Enhancers	Thymus	Thymus
22	chr1:45984800-45986200	Flanking Active TSS	HUVEC	blood vessel
23	chr1:45985000-45986000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr1:45985000-45986000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:45985000-45986000	Enhancers	Fetal Thymus	thymus
26	chr1:45985000-45986000	Enhancers	Left Ventricle	heart
27	chr1:45985000-45986000	Enhancers	Psoas Muscle	Psoas
28	chr1:45985000-45986200	Flanking Active TSS	Liver	Liver
29	chr1:45985000-45986200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr1:45985200-45986000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:45985200-45986000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:45985200-45986000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:45985200-45986000	Weak transcription	Esophagus	oesophagus
34	chr1:45985200-45986000	Weak transcription	Fetal Kidney	kidney
35	chr1:45985200-45986000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:45985200-45986000	Enhancers	Fetal Muscle Trunk	muscle
37	chr1:45985200-45986000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:45985200-45986000	Enhancers	Right Ventricle	heart
39	chr1:45985200-45986000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:45985200-45986200	Flanking Active TSS	Dnd41	blood
41	chr1:45985200-45986400	Weak transcription	Small Intestine	intestine
42	chr1:45985200-45987000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:45985200-45987800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:45985200-45987800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr1:45985200-45987800	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr1:45985200-45987800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:45985200-45987800	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr1:45985200-45987800	Active TSS	Colon Smooth Muscle	Colon
49	chr1:45985200-45987800	Active TSS	HSMMtube	muscle
50	chr1:45985200-45988000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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