Variant report

Variant	rs35711761
Chromosome Location	chr1:47778833-47778834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr1:47778771-47778936	GM12878	blood:	n/a	n/a
2	PAX5	chr1:47778722-47778994	GM12878	blood:	n/a	n/a
3	MXI1	chr1:47778774-47780642	IMR90	lung:	n/a	n/a
4	E2F4	chr1:47778176-47780439	MCF10A-Er-Src	breast:	n/a	chr1:47779950-47779959 chr1:47779808-47779819
5	MXI1	chr1:47778491-47780683	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr1:47778776-47778974	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47768301..47773311-chr1:47776226..47780764,7	K562	blood:
2	chr1:47696558..47698524-chr1:47778724..47781604,2	K562	blood:
3	chr1:47695872..47699054-chr1:47778639..47781604,5	K562	blood:
4	chr1:47694063..47695820-chr1:47778325..47781365,3	K562	blood:
5	chr1:47643313..47646101-chr1:47777883..47779835,2	K562	blood:
6	chr1:47772551..47781833-chr1:47797933..47806586,42	K562	blood:
7	chr1:47766511..47768072-chr1:47777921..47779885,2	K562	blood:
8	chr1:47778595..47781681-chr1:47798356..47800996,6	MCF-7	breast:

No data

Variant related genes	Relation type
STIL	TF binding region
ENSG00000162367	Chromatin interaction
ENSG00000123473	Chromatin interaction
ENSG00000162368	Chromatin interaction
ENSG00000224805	Chromatin interaction
ENSG00000225506	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10157883	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1028646	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1028647	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1044457	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211510	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11211511	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11211517	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12118514	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12121831	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12125261	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12126139	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12127982	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12132928	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12138072	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12141060	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562561	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12730819	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12731806	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12732050	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12732410	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12743643	0.97[ASN][1000 genomes]
rs12743877	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17370337	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17452995	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2246707	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2472725	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2494247	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2622901	0.82[EUR][1000 genomes]
rs2622905	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2622907	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2622908	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2622925	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2622926	0.85[ASN][1000 genomes]
rs2742081	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2742104	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2758735	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2758737	0.82[EUR][1000 genomes]
rs2820987	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2820988	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2820989	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2821087	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2821088	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2821090	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2821093	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2821096	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3122607	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3122610	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3122611	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3122615	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3122619	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3122620	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3122623	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3125624	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3125628	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3125630	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3125632	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3125633	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3125638	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3125639	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3125640	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3125641	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34400183	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34952704	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35774681	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35880845	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3925058	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4147192	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4492666	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4926824	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55737131	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56328227	0.81[AFR][1000 genomes]
rs61782706	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6588348	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6588365	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6659946	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6671254	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6681868	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6689687	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6692734	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703956	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6795	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71645861	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72686249	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7523987	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7525650	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7533562	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7541748	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7543016	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9436749	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9436838	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9436882	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35711761	CMPK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47714400-47779200	Weak transcription	Small Intestine	intestine
2	chr1:47735400-47779000	Weak transcription	Esophagus	oesophagus
3	chr1:47743800-47779200	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:47744200-47779000	Weak transcription	Brain Angular Gyrus	brain
5	chr1:47744400-47779000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:47744800-47779000	Weak transcription	HSMMtube	muscle
7	chr1:47750000-47779200	Weak transcription	Right Atrium	heart
8	chr1:47755200-47779000	Weak transcription	Primary B cells from cord blood	blood
9	chr1:47763600-47779000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:47763600-47779200	Weak transcription	Fetal Brain Male	brain
11	chr1:47764200-47779000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:47764200-47779000	Weak transcription	Stomach Mucosa	stomach
13	chr1:47765600-47779000	Weak transcription	Brain Anterior Caudate	brain
14	chr1:47765800-47779200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:47767400-47779000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:47767800-47779000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:47768000-47779200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:47768600-47779000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:47774400-47779000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:47778000-47779200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr1:47778000-47780400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:47778000-47780400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:47778000-47780600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:47778000-47781200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:47778200-47780600	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:47778200-47780600	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:47778200-47780600	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:47778200-47780600	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr1:47778200-47780600	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr1:47778200-47780600	Active TSS	A549	lung
31	chr1:47778200-47780600	Active TSS	GM12878-XiMat	blood
32	chr1:47778200-47780600	Active TSS	NH-A	brain
33	chr1:47778200-47780600	Active TSS	NHDF-Ad	bronchial
34	chr1:47778200-47780800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:47778400-47779000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:47778400-47779000	Active TSS	Brain Germinal Matrix	brain
37	chr1:47778400-47779000	Active TSS	Fetal Brain Female	brain
38	chr1:47778400-47779200	Enhancers	Fetal Heart	heart
39	chr1:47778400-47779200	Active TSS	HepG2	liver
40	chr1:47778400-47779400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:47778400-47779400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr1:47778400-47779600	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr1:47778400-47779600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:47778400-47779800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:47778400-47780600	Active TSS	H9 Cell Line	embryonic stem cell
46	chr1:47778400-47780600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:47778400-47780600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:47778400-47780600	Active TSS	Fetal Kidney	kidney
49	chr1:47778400-47780800	Active TSS	H1 Cell Line	embryonic stem cell
50	chr1:47778400-47780800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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