Variant report

Variant	rs35111552
Chromosome Location	chr1:10271540-10271541
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	SMARCB1	chr1:10269882-10271756	Hela-S3	cervix:	n/a	n/a
2	UBTF	chr1:10271411-10272074	K562	blood:	n/a	n/a
3	MAFK	chr1:10271423-10271672	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:10271324-10272454	HepG2	liver:	n/a	n/a
5	EP300	chr1:10271518-10271872	Hela-S3	cervix:	n/a	n/a
6	SIN3AK20	chr1:10271495-10271718	PFSK-1	brain:	n/a	n/a
7	TBL1XR1	chr1:10271306-10272089	K562	blood:	n/a	n/a
8	MAFK	chr1:10271344-10271637	HepG2	liver:	n/a	n/a
9	E2F6	chr1:10269986-10272096	K562	blood:	n/a	chr1:10271048-10271063 chr1:10271718-10271730 chr1:10270941-10270950 chr1:10270581-10270590 chr1:10271196-10271206 chr1:10270469-10270478
10	MYBL2	chr1:10271497-10272041	HepG2	liver:	n/a	n/a
11	E2F4	chr1:10271474-10272210	MCF10A-Er-Src	breast:	n/a	chr1:10271718-10271730
12	E2F6	chr1:10271112-10271724	H1-hESC	embryonic stem cell:	n/a	chr1:10271196-10271206
13	MYC	chr1:10271479-10271732	HUVEC	blood vessel:	n/a	n/a
14	MAX	chr1:10271107-10272210	K562	blood:	n/a	n/a
15	SIN3AK20	chr1:10271359-10271703	A549	lung:	n/a	n/a
16	MXI1	chr1:10271228-10271755	H1-hESC	embryonic stem cell:	n/a	n/a
17	TAF1	chr1:10269716-10271838	H1-hESC	embryonic stem cell:	n/a	n/a
18	RCOR1	chr1:10271315-10271982	Hela-S3	cervix:	n/a	n/a
19	MAX	chr1:10271133-10272192	SK-N-SH	brain:	n/a	n/a
20	ELF1	chr1:10269819-10271725	GM12878	blood:	n/a	chr1:10270352-10270364 chr1:10270829-10270841 chr1:10270994-10271003 chr1:10270828-10270840 chr1:10270747-10270759
21	SMC3	chr1:10271301-10272185	Hela-S3	cervix:	n/a	n/a
22	TAF1	chr1:10271432-10271688	Hela-S3	cervix:	n/a	n/a
23	PBX3	chr1:10271278-10272413	SK-N-SH	brain:	n/a	n/a
24	RCOR1	chr1:10271349-10272240	K562	blood:	n/a	n/a
25	MAX	chr1:10271030-10271997	A549	lung:	n/a	n/a
26	SIN3AK20	chr1:10271439-10271765	A549	lung:	n/a	n/a
27	ARID3A	chr1:10271526-10272346	HepG2	liver:	n/a	chr1:10272272-10272288
28	TBP	chr1:10271279-10271765	H1-hESC	embryonic stem cell:	n/a	n/a
29	USF2	chr1:10271493-10272133	Hela-S3	cervix:	n/a	n/a
30	GATA2	chr1:10271302-10272282	SH-SY5Y	brain:	n/a	chr1:10271754-10271765
31	RCOR1	chr1:10271484-10271666	HepG2	liver:	n/a	n/a
32	CEBPB	chr1:10271298-10272180	Hela-S3	cervix:	n/a	chr1:10271774-10271787
33	MAFF	chr1:10271471-10271816	HepG2	liver:	n/a	n/a
34	PAX5	chr1:10271475-10271748	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:10269803-10271682	MCF-7	breast:	n/a	n/a
36	YY1	chr1:10271189-10272253	SK-N-SH_RA	brain:	n/a	chr1:10271545-10271567 chr1:10271419-10271430 chr1:10271543-10271560
37	EP300	chr1:10271339-10271770	HepG2	liver:	n/a	n/a
38	MXI1	chr1:10271446-10272310	Hela-S3	cervix:	n/a	n/a
39	GTF2F1	chr1:10271375-10271988	Hela-S3	cervix:	n/a	n/a
40	MAX	chr1:10271028-10271742	H1-hESC	embryonic stem cell:	n/a	n/a
41	FOSL2	chr1:10271299-10271935	A549	lung:	n/a	chr1:10271630-10271642
42	YY1	chr1:10269851-10271732	HepG2	liver:	n/a	chr1:10270941-10270950 chr1:10270821-10270835 chr1:10271545-10271567 chr1:10270827-10270841 chr1:10271419-10271430 chr1:10271543-10271560 chr1:10270944-10270958 chr1:10270800-10270811 chr1:10270691-10270705
43	POLR2A	chr1:10269682-10271755	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr1:10271243-10271868	MCF10A-Er-Src	breast:	n/a	n/a
45	TBP	chr1:10271286-10272148	HepG2	liver:	n/a	n/a
46	TEAD4	chr1:10271190-10272144	ECC-1	luminal epithelium:	n/a	n/a
47	MAZ	chr1:10269724-10272494	IMR90	lung:	n/a	n/a
48	TBP	chr1:10271430-10271850	Hela-S3	cervix:	n/a	n/a
49	MXI1	chr1:10271098-10272257	HepG2	liver:	n/a	n/a
50	NFIC	chr1:10271024-10272264	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:10269636..10272138-chr1:10457591..10460138,4	K562	blood:
2	chr1:10269768..10272241-chr11:62606834..62608360,2	MCF-7	breast:
3	chr1:10270585..10272249-chr1:10490197..10491890,2	K562	blood:
4	chr1:10269508..10272201-chr1:10459062..10462119,3	K562	blood:

Variant related genes	Relation type
KIF1B	TF binding region
ENSG00000251503	Chromatin interaction
ENSG00000142657	Chromatin interaction
ENSG00000175279	Chromatin interaction
ENSG00000271989	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11121528	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11121531	0.85[ASN][1000 genomes]
rs11121532	0.85[ASN][1000 genomes]
rs11121533	0.83[ASN][1000 genomes]
rs12116966	0.81[EUR][1000 genomes]
rs12117765	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12122107	0.82[ASN][1000 genomes]
rs12127553	0.82[ASN][1000 genomes]
rs12129035	0.82[ASN][1000 genomes]
rs12133125	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12136376	0.82[ASN][1000 genomes]
rs12137456	0.82[ASN][1000 genomes]
rs12145227	0.88[ASN][1000 genomes]
rs12402052	0.82[ASN][1000 genomes]
rs12406776	0.82[ASN][1000 genomes]
rs12407992	0.82[ASN][1000 genomes]
rs12408019	0.82[ASN][1000 genomes]
rs12755094	0.82[ASN][1000 genomes]
rs12757820	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1339458	0.80[ASN][1000 genomes]
rs17400510	0.83[ASN][1000 genomes]
rs34420285	0.85[ASN][1000 genomes]
rs35187325	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35766535	0.83[ASN][1000 genomes]
rs35830240	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4348727	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4845933	0.80[ASN][1000 genomes]
rs4846208	0.82[ASN][1000 genomes]
rs58549151	0.82[ASN][1000 genomes]
rs61784566	0.88[ASN][1000 genomes]
rs61784572	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61784573	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61784574	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61784579	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61784580	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6699879	0.86[ASN][1000 genomes]
rs6700866	0.82[ASN][1000 genomes]
rs7520259	0.90[ASN][1000 genomes]
rs7520651	0.80[ASN][1000 genomes]
rs7520935	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3440429	chr1:10269390-10271938	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	esv3406468	chr1:10269765-10272038	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	esv3406947	chr1:10269890-10272738	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35111552	KIF1B	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10269400-10272200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:10269400-10272400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:10269400-10272400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:10269400-10272400	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr1:10269400-10272400	Active TSS	NHDF-Ad	bronchial
6	chr1:10269400-10272600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr1:10269400-10272800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:10269400-10273200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:10269600-10271800	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr1:10269600-10271800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:10269600-10271800	Active TSS	Primary T cells from cord blood	blood
12	chr1:10269600-10271800	Active TSS	Brain Hippocampus Middle	brain
13	chr1:10269600-10271800	Active TSS	Fetal Muscle Leg	muscle
14	chr1:10269600-10271800	Active TSS	Stomach Smooth Muscle	stomach
15	chr1:10269600-10272000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:10269600-10272000	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr1:10269600-10272000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:10269600-10272000	Active TSS	Fetal Stomach	stomach
19	chr1:10269600-10272200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr1:10269600-10272200	Active TSS	Brain Angular Gyrus	brain
21	chr1:10269600-10272400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr1:10269600-10272800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:10269600-10273200	Active TSS	HSMMtube	muscle
24	chr1:10269800-10271600	Active TSS	Gastric	stomach
25	chr1:10269800-10271600	Active TSS	Placenta Amnion	Placenta Amnion
26	chr1:10269800-10271800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:10269800-10271800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:10269800-10271800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:10269800-10271800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:10269800-10271800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:10269800-10271800	Active TSS	Muscle Satellite Cultured Cells	--
32	chr1:10269800-10271800	Active TSS	Fetal Kidney	kidney
33	chr1:10269800-10271800	Active TSS	Left Ventricle	heart
34	chr1:10269800-10271800	Active TSS	Pancreas	Pancrea
35	chr1:10269800-10271800	Active TSS	Small Intestine	intestine
36	chr1:10269800-10272000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:10269800-10272000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:10269800-10272000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:10269800-10272000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr1:10269800-10272000	Active TSS	Brain Substantia Nigra	brain
41	chr1:10269800-10272000	Active TSS	Colon Smooth Muscle	Colon
42	chr1:10269800-10272000	Active TSS	Lung	lung
43	chr1:10269800-10272200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:10269800-10272200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:10269800-10272200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:10269800-10272200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:10269800-10272200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:10269800-10272200	Active TSS	Ovary	ovary
49	chr1:10269800-10272200	Active TSS	NH-A	brain
50	chr1:10269800-10272400	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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