Variant report

Variant	rs567359922
Chromosome Location	chr1:10271362-10271363
allele	A/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	POLR2A	chr1:10271324-10272454	HepG2	liver:	n/a	n/a
3	TBL1XR1	chr1:10271306-10272089	K562	blood:	n/a	n/a
4	MAFK	chr1:10271344-10271637	HepG2	liver:	n/a	n/a
5	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
6	E2F6	chr1:10271112-10271724	H1-hESC	embryonic stem cell:	n/a	chr1:10271196-10271206
7	MAX	chr1:10271107-10272210	K562	blood:	n/a	n/a
8	SIN3AK20	chr1:10271359-10271703	A549	lung:	n/a	n/a
9	MAX	chr1:10271267-10271461	GM12878	blood:	n/a	n/a
10	MXI1	chr1:10271228-10271755	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF1	chr1:10269716-10271838	H1-hESC	embryonic stem cell:	n/a	n/a
12	RCOR1	chr1:10271315-10271982	Hela-S3	cervix:	n/a	n/a
13	MAX	chr1:10271133-10272192	SK-N-SH	brain:	n/a	n/a
14	ELF1	chr1:10269819-10271725	GM12878	blood:	n/a	chr1:10270352-10270364 chr1:10270829-10270841 chr1:10270994-10271003 chr1:10270828-10270840 chr1:10270747-10270759
15	SMC3	chr1:10271301-10272185	Hela-S3	cervix:	n/a	n/a
16	PBX3	chr1:10271278-10272413	SK-N-SH	brain:	n/a	n/a
17	RCOR1	chr1:10271349-10272240	K562	blood:	n/a	n/a
18	MAX	chr1:10271030-10271997	A549	lung:	n/a	n/a
19	TBP	chr1:10271279-10271765	H1-hESC	embryonic stem cell:	n/a	n/a
20	GATA2	chr1:10271302-10272282	SH-SY5Y	brain:	n/a	chr1:10271754-10271765
21	CEBPB	chr1:10271298-10272180	Hela-S3	cervix:	n/a	chr1:10271774-10271787
22	MAZ	chr1:10271154-10271408	HepG2	liver:	n/a	n/a
23	POLR2A	chr1:10269803-10271682	MCF-7	breast:	n/a	n/a
24	YY1	chr1:10271189-10272253	SK-N-SH_RA	brain:	n/a	chr1:10271545-10271567 chr1:10271419-10271430 chr1:10271543-10271560
25	EP300	chr1:10271339-10271770	HepG2	liver:	n/a	n/a
26	MAX	chr1:10271028-10271742	H1-hESC	embryonic stem cell:	n/a	n/a
27	FOSL2	chr1:10271299-10271935	A549	lung:	n/a	chr1:10271630-10271642
28	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
29	POLR2A	chr1:10269682-10271755	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr1:10271243-10271868	MCF10A-Er-Src	breast:	n/a	n/a
31	TBP	chr1:10271286-10272148	HepG2	liver:	n/a	n/a
32	TEAD4	chr1:10271190-10272144	ECC-1	luminal epithelium:	n/a	n/a
33	MAZ	chr1:10269724-10272494	IMR90	lung:	n/a	n/a
34	MXI1	chr1:10271098-10272257	HepG2	liver:	n/a	n/a
35	BHLHE40	chr1:10271182-10271453	K562	blood:	n/a	chr1:10271229-10271245
36	NFIC	chr1:10271024-10272264	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr1:10271286-10271893	U87	brain:	n/a	n/a
38	CBX3	chr1:10271310-10272140	K562	blood:	n/a	n/a
39	POLR2A	chr1:10271076-10272099	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr1:10271356-10271496	K562	blood:	n/a	n/a
41	GTF2F1	chr1:10271359-10271572	H1-hESC	embryonic stem cell:	n/a	n/a
42	HCFC1	chr1:10271308-10271401	K562	blood:	n/a	n/a
43	POLR2A	chr1:10269756-10272414	H1-neurons	neurons:	n/a	n/a
44	YY1	chr1:10271098-10271878	H1-hESC	embryonic stem cell:	n/a	chr1:10271545-10271567 chr1:10271419-10271430 chr1:10271543-10271560
45	POLR2A	chr1:10271233-10271709	MCF-7	breast:	n/a	n/a
46	ZNF263	chr1:10269795-10272266	HEK293-T-REx	kidney:	n/a	chr1:10271003-10271012
47	EP300	chr1:10271131-10272075	ECC-1	luminal epithelium:	n/a	chr1:10271309-10271323
48	YY1	chr1:10271294-10271686	HCT-116	colon:	n/a	chr1:10271545-10271567 chr1:10271419-10271430 chr1:10271543-10271560
49	POLR2A	chr1:10271312-10271778	Hela-S3	cervix:	n/a	n/a
50	MAZ	chr1:10271042-10271931	Hela-S3	cervix:	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	chr1:10270721..10271416-chr17:6917944..6918783,2	Hela-S3	cervix:
4	chr1:10270585..10272249-chr1:10490197..10491890,2	K562	blood:
5	chr1:10269508..10272201-chr1:10459062..10462119,3	K562	blood:

Variant related genes	Relation type
KIF1B	TF binding region
ENSG00000258315	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000142657	Chromatin interaction
ENSG00000251503	Chromatin interaction
ENSG00000271989	Chromatin interaction
ENSG00000175279	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10269400-10271400	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr1:10269400-10272200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:10269400-10272400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:10269400-10272400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:10269400-10272400	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr1:10269400-10272400	Active TSS	NHDF-Ad	bronchial
7	chr1:10269400-10272600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:10269400-10272800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:10269400-10273200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:10269600-10271400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr1:10269600-10271800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:10269600-10271800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:10269600-10271800	Active TSS	Primary T cells from cord blood	blood
14	chr1:10269600-10271800	Active TSS	Brain Hippocampus Middle	brain
15	chr1:10269600-10271800	Active TSS	Fetal Muscle Leg	muscle
16	chr1:10269600-10271800	Active TSS	Stomach Smooth Muscle	stomach
17	chr1:10269600-10272000	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:10269600-10272000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr1:10269600-10272000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:10269600-10272000	Active TSS	Fetal Stomach	stomach
21	chr1:10269600-10272200	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:10269600-10272200	Active TSS	Brain Angular Gyrus	brain
23	chr1:10269600-10272400	Active TSS	H1 Cell Line	embryonic stem cell
24	chr1:10269600-10272800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr1:10269600-10273200	Active TSS	HSMMtube	muscle
26	chr1:10269800-10271400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:10269800-10271400	Active TSS	Esophagus	oesophagus
28	chr1:10269800-10271400	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr1:10269800-10271400	Active TSS	HepG2	liver
30	chr1:10269800-10271600	Active TSS	Gastric	stomach
31	chr1:10269800-10271600	Active TSS	Placenta Amnion	Placenta Amnion
32	chr1:10269800-10271800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:10269800-10271800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:10269800-10271800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:10269800-10271800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:10269800-10271800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:10269800-10271800	Active TSS	Muscle Satellite Cultured Cells	--
38	chr1:10269800-10271800	Active TSS	Fetal Kidney	kidney
39	chr1:10269800-10271800	Active TSS	Left Ventricle	heart
40	chr1:10269800-10271800	Active TSS	Pancreas	Pancrea
41	chr1:10269800-10271800	Active TSS	Small Intestine	intestine
42	chr1:10269800-10272000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:10269800-10272000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:10269800-10272000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:10269800-10272000	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr1:10269800-10272000	Active TSS	Brain Substantia Nigra	brain
47	chr1:10269800-10272000	Active TSS	Colon Smooth Muscle	Colon
48	chr1:10269800-10272000	Active TSS	Lung	lung
49	chr1:10269800-10272200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:10269800-10272200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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