Variant report

Variant	rs568133415
Chromosome Location	chr1:10271069-10271070
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	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
3	TAF1	chr1:10269716-10271838	H1-hESC	embryonic stem cell:	n/a	n/a
4	ELF1	chr1:10269819-10271725	GM12878	blood:	n/a	chr1:10270352-10270364 chr1:10270829-10270841 chr1:10270994-10271003 chr1:10270828-10270840 chr1:10270747-10270759
5	MAX	chr1:10271030-10271997	A549	lung:	n/a	n/a
6	MYC	chr1:10271049-10271095	MCF-7	breast:	n/a	n/a
7	POLR2A	chr1:10269803-10271682	MCF-7	breast:	n/a	n/a
8	MAX	chr1:10271028-10271742	H1-hESC	embryonic stem cell:	n/a	n/a
9	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
10	POLR2A	chr1:10269682-10271755	HUVEC	blood vessel:	n/a	n/a
11	MAZ	chr1:10269724-10272494	IMR90	lung:	n/a	n/a
12	NFIC	chr1:10271024-10272264	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr1:10269756-10272414	H1-neurons	neurons:	n/a	n/a
14	ZNF263	chr1:10269795-10272266	HEK293-T-REx	kidney:	n/a	chr1:10271003-10271012
15	TAF1	chr1:10269986-10271295	HepG2	liver:	n/a	n/a
16	MAZ	chr1:10271042-10271931	Hela-S3	cervix:	n/a	n/a
17	MAX	chr1:10271005-10272240	K562	blood:	n/a	n/a
18	MAX	chr1:10270990-10272119	A549	lung:	n/a	n/a
19	POLR2A	chr1:10269779-10271984	Hela-S3	cervix:	n/a	n/a
20	REST	chr1:10269433-10272638	H1-neurons	neurons:	n/a	chr1:10271064-10271074 chr1:10270783-10270793 chr1:10270431-10270441 chr1:10270583-10270596 chr1:10270241-10270254
21	POLR2A	chr1:10270945-10271780	ECC-1	luminal epithelium:	n/a	n/a
22	JUN	chr1:10269639-10272803	K562	blood:	n/a	chr1:10270242-10270251 chr1:10271275-10271284 chr1:10271630-10271642 chr1:10272495-10272502
23	ZBTB7A	chr1:10270745-10271759	ECC-1	luminal epithelium:	n/a	chr1:10271149-10271157
24	HMGN3	chr1:10269956-10271709	K562	blood:	n/a	n/a
25	TCF12	chr1:10270947-10271972	ECC-1	luminal epithelium:	n/a	chr1:10271489-10271496
26	EBF1	chr1:10271039-10271798	GM12878	blood:	n/a	n/a
27	YY1	chr1:10269815-10272349	SK-N-SH	brain:	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
28	TCF7L2	chr1:10269800-10272209	HCT-116	colon:	n/a	n/a
29	POLR2A	chr1:10269807-10271107	H1-hESC	embryonic stem cell:	n/a	n/a
30	YY1	chr1:10270158-10271761	K562	blood:	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
31	MAZ	chr1:10269788-10272122	K562	blood:	n/a	n/a
32	SIN3AK20	chr1:10269876-10272276	PANC-1	pancreas:	n/a	n/a
33	SIN3A	chr1:10269703-10272234	H1-hESC	embryonic stem cell:	n/a	chr1:10272156-10272164 chr1:10270814-10270825 chr1:10271105-10271118 chr1:10270803-10270814 chr1:10270637-10270650 chr1:10270947-10270960
34	YY1	chr1:10271069-10271776	H1-hESC	embryonic stem cell:	n/a	chr1:10271545-10271567 chr1:10271419-10271430 chr1:10271543-10271560
35	SIN3AK20	chr1:10271032-10272284	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr1:10269653-10272414	IMR90	lung:	n/a	n/a
37	MAX	chr1:10270984-10272096	ECC-1	luminal epithelium:	n/a	n/a
38	MAX	chr1:10269790-10272110	HepG2	liver:	n/a	n/a
39	POLR2A	chr1:10269818-10272347	H1-hESC	embryonic stem cell:	n/a	n/a
40	ZBTB7A	chr1:10270032-10271737	K562	blood:	n/a	chr1:10271149-10271157 chr1:10270410-10270419
41	CCNT2	chr1:10269990-10271679	K562	blood:	n/a	chr1:10270977-10270986 chr1:10271088-10271097
42	E2F6	chr1:10271018-10271451	K562	blood:	n/a	chr1:10271048-10271063 chr1:10271196-10271206
43	POLR2A	chr1:10269789-10271952	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr1:10270173-10271081	K562	blood:	n/a	n/a
45	YY1	chr1:10271028-10271770	K562	blood:	n/a	chr1:10271545-10271567 chr1:10271419-10271430 chr1:10271543-10271560
46	MXI1	chr1:10269317-10272797	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr1:10269822-10272052	HepG2	liver:	n/a	n/a
48	TAF1	chr1:10269896-10271712	H1-hESC	embryonic stem cell:	n/a	n/a
49	ZBTB7A	chr1:10270774-10271722	ECC-1	luminal epithelium:	n/a	chr1:10271149-10271157
50	MXI1	chr1:10269369-10272656	IMR90	lung:	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
ENSG00000251503	Chromatin interaction
ENSG00000271989	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000142657	Chromatin interaction
ENSG00000258315	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:126 , 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	chr1:10269600-10271200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:10269600-10271200	Active TSS	Duodenum Mucosa	Duodenum
12	chr1:10269600-10271200	Active TSS	K562	blood
13	chr1:10269600-10271400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr1:10269600-10271800	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr1:10269600-10271800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:10269600-10271800	Active TSS	Primary T cells from cord blood	blood
17	chr1:10269600-10271800	Active TSS	Brain Hippocampus Middle	brain
18	chr1:10269600-10271800	Active TSS	Fetal Muscle Leg	muscle
19	chr1:10269600-10271800	Active TSS	Stomach Smooth Muscle	stomach
20	chr1:10269600-10272000	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr1:10269600-10272000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr1:10269600-10272000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:10269600-10272000	Active TSS	Fetal Stomach	stomach
24	chr1:10269600-10272200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:10269600-10272200	Active TSS	Brain Angular Gyrus	brain
26	chr1:10269600-10272400	Active TSS	H1 Cell Line	embryonic stem cell
27	chr1:10269600-10272800	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr1:10269600-10273200	Active TSS	HSMMtube	muscle
29	chr1:10269800-10271200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:10269800-10271200	Active TSS	Fetal Brain Female	brain
31	chr1:10269800-10271400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:10269800-10271400	Active TSS	Esophagus	oesophagus
33	chr1:10269800-10271400	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr1:10269800-10271400	Active TSS	HepG2	liver
35	chr1:10269800-10271600	Active TSS	Gastric	stomach
36	chr1:10269800-10271600	Active TSS	Placenta Amnion	Placenta Amnion
37	chr1:10269800-10271800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:10269800-10271800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:10269800-10271800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:10269800-10271800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:10269800-10271800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:10269800-10271800	Active TSS	Muscle Satellite Cultured Cells	--
43	chr1:10269800-10271800	Active TSS	Fetal Kidney	kidney
44	chr1:10269800-10271800	Active TSS	Left Ventricle	heart
45	chr1:10269800-10271800	Active TSS	Pancreas	Pancrea
46	chr1:10269800-10271800	Active TSS	Small Intestine	intestine
47	chr1:10269800-10272000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:10269800-10272000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:10269800-10272000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:10269800-10272000	Active TSS	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links