Variant report

Variant	rs570415013
Chromosome Location	chr1:161008360-161008361
allele	A/T
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	POLR2A	chr1:161008153-161009077	GM12892	blood:	n/a	n/a
2	USF1	chr1:161008322-161008729	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr1:161007957-161009036	GM12878	blood:	n/a	n/a
4	SIN3AK20	chr1:161007599-161009021	MCF-7	breast:	n/a	n/a
5	HA-E2F1	chr1:161008205-161009059	MCF-7	breast:	n/a	chr1:161008803-161008813 chr1:161008799-161008808
6	EGR1	chr1:161007843-161009279	HCT-116	colon:	n/a	chr1:161008803-161008816 chr1:161008803-161008813 chr1:161008804-161008815 chr1:161008803-161008816 chr1:161008804-161008814 chr1:161008804-161008814 chr1:161008804-161008813 chr1:161008803-161008816 chr1:161008802-161008816 chr1:161008802-161008817 chr1:161008803-161008816
7	MAZ	chr1:161008337-161009018	GM12878	blood:	n/a	n/a
8	MAX	chr1:161008360-161009052	H1-hESC	embryonic stem cell:	n/a	n/a
9	NFATC1	chr1:161008263-161009032	GM12878	blood:	n/a	n/a
10	NFATC1	chr1:161008346-161008953	GM12878	blood:	n/a	n/a
11	YY1	chr1:161008296-161009030	GM12892	blood:	n/a	chr1:161008802-161008816 chr1:161008788-161008802 chr1:161008802-161008811 chr1:161008799-161008808
12	POLR2A	chr1:161008284-161009056	GM12878	blood:	n/a	n/a
13	MAX	chr1:161008311-161008937	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr1:161008342-161008977	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:161007917-161009059	GM12891	blood:	n/a	n/a
16	TEAD4	chr1:161007992-161009049	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr1:161008050-161009032	ECC-1	luminal epithelium:	n/a	n/a
18	RUNX3	chr1:161008339-161009099	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:161008326-161009033	GM12892	blood:	n/a	n/a
20	STAT5A	chr1:161007852-161009029	GM12878	blood:	n/a	chr1:161008902-161008925
21	POLR2A	chr1:161008326-161008946	HUVEC	blood vessel:	n/a	n/a
22	ZEB1	chr1:161008193-161009027	GM12878	blood:	n/a	chr1:161008813-161008824 chr1:161008530-161008537
23	SIN3AK20	chr1:161007947-161008997	MCF-7	breast:	n/a	n/a
24	POU2F2	chr1:161008228-161009020	GM12891	blood:	n/a	chr1:161008804-161008816 chr1:161008807-161008819
25	POLR2A	chr1:161008039-161009078	H1-hESC	embryonic stem cell:	n/a	n/a
26	ELF1	chr1:161008302-161009015	GM12878	blood:	n/a	chr1:161008641-161008653
27	MAX	chr1:161007953-161009085	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr1:161007856-161009025	GM12878	blood:	n/a	n/a
29	FOXM1	chr1:161008181-161009147	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:161008322-161009024	HUVEC	blood vessel:	n/a	n/a
31	MXI1	chr1:161007229-161009255	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr1:161008050-161008955	H1-hESC	embryonic stem cell:	n/a	n/a
33	GABPA	chr1:161007934-161009070	MCF-7	breast:	n/a	n/a
34	YY1	chr1:161007967-161008938	ECC-1	luminal epithelium:	n/a	chr1:161008802-161008816 chr1:161008788-161008802 chr1:161008802-161008811 chr1:161008799-161008808
35	POLR2A	chr1:161008032-161009048	GM18505	blood:	n/a	n/a
36	POLR2A	chr1:161007975-161009027	GM12891	blood:	n/a	n/a
37	EGR1	chr1:161008249-161009054	ECC-1	luminal epithelium:	n/a	chr1:161008803-161008816 chr1:161008803-161008813 chr1:161008804-161008815 chr1:161008803-161008816 chr1:161008804-161008814 chr1:161008804-161008814 chr1:161008804-161008813 chr1:161008803-161008816 chr1:161008802-161008816 chr1:161008802-161008817 chr1:161008803-161008816
38	YY1	chr1:161008329-161008877	SK-N-SH_RA	brain:	n/a	chr1:161008802-161008816 chr1:161008788-161008802 chr1:161008802-161008811 chr1:161008799-161008808
39	POLR2A	chr1:161007993-161008996	ECC-1	luminal epithelium:	n/a	n/a
40	MAX	chr1:161007890-161009065	MCF-7	breast:	n/a	n/a
41	TCF12	chr1:161007865-161009154	ECC-1	luminal epithelium:	n/a	n/a
42	SIN3AK20	chr1:161008208-161008984	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr1:161008174-161008959	ProgFib	skin:	n/a	n/a
44	TAF1	chr1:161007973-161009041	ECC-1	luminal epithelium:	n/a	n/a
45	MAX	chr1:161007952-161009070	HCT-116	colon:	n/a	n/a
46	POLR2A	chr1:161008220-161009008	GM12878	blood:	n/a	n/a
47	POLR2A	chr1:161007901-161009065	HCT-116	colon:	n/a	n/a
48	SIN3AK20	chr1:161008313-161008895	SK-N-SH	brain:	n/a	n/a
49	YY1	chr1:161008300-161008895	SK-N-SH_RA	brain:	n/a	chr1:161008802-161008816 chr1:161008788-161008802 chr1:161008802-161008811 chr1:161008799-161008808
50	YY1	chr1:161008276-161008916	HCT-116	colon:	n/a	chr1:161008802-161008816 chr1:161008788-161008802 chr1:161008802-161008811 chr1:161008799-161008808

No.	Distal block	Cell Line	Cell type
1	chr1:161006227..161009098-chr1:161086419..161089402,2	MCF-7	breast:
2	chr1:161007165..161010190-chr1:161058502..161060475,3	MCF-7	breast:
3	chr1:161007047..161009717-chr1:161100084..161102311,2	K562	blood:
4	chr1:160989087..160991942-chr1:161007144..161014242,6	K562	blood:
5	chr1:161007801..161009697-chr1:161067796..161070375,2	K562	blood:
6	chr1:161006354..161009878-chr1:161042497..161045575,4	MCF-7	breast:
7	chr1:160988819..160994033-chr1:161005548..161011188,8	MCF-7	breast:
8	chr1:161007064..161010778-chr1:161101040..161104167,3	MCF-7	breast:
9	chr1:160989495..160995605-chr1:161004888..161010340,15	MCF-7	breast:
10	chr1:161006846..161009787-chr1:161123441..161125743,2	MCF-7	breast:
11	chr1:160988071..160992174-chr1:161007125..161014242,7	K562	blood:
12	chr1:161005808..161012985-chr1:161064732..161070101,9	MCF-7	breast:

Variant related genes	Relation type
TSTD1	TF binding region
ENSG00000143256	Chromatin interaction
ENSG00000143222	Chromatin interaction
ENSG00000143217	Chromatin interaction
ENSG00000162755	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000158769	Chromatin interaction
ENSG00000158796	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv947201	chr1:161006051-161013276	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv548059	chr1:161007326-161010791	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv3221	chr1:161008175-161052979	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 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	chr1:161003200-161008800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:161004000-161009200	Weak transcription	Hela-S3	cervix
3	chr1:161005000-161009400	Weak transcription	K562	blood
4	chr1:161007000-161009200	Weak transcription	NHDF-Ad	bronchial
5	chr1:161007000-161013400	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:161007200-161008800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:161007200-161009000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr1:161007400-161008400	Flanking Active TSS	Fetal Brain Female	brain
9	chr1:161007400-161008600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:161007400-161009000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr1:161007400-161009200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr1:161007400-161009200	Active TSS	Rectal Smooth Muscle	rectum
13	chr1:161007400-161013400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:161007400-161013400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:161007400-161013400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:161007400-161013400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:161007600-161008400	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr1:161007600-161008400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr1:161007600-161008400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr1:161007600-161008400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:161007600-161008400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:161007600-161008400	Flanking Active TSS	Pancreas	Pancrea
23	chr1:161007600-161008400	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr1:161007600-161008600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr1:161007600-161008600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr1:161007600-161008600	Flanking Active TSS	NHEK	skin
27	chr1:161007600-161008800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:161007600-161009000	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:161007600-161009000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr1:161007600-161009000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:161007600-161009000	Active TSS	Colon Smooth Muscle	Colon
32	chr1:161007600-161009200	Flanking Active TSS	Dnd41	blood
33	chr1:161007600-161009200	Weak transcription	HepG2	liver
34	chr1:161007600-161009400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
35	chr1:161007600-161013400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:161007800-161008400	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr1:161007800-161008400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:161007800-161008400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr1:161007800-161008400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:161007800-161008400	Flanking Active TSS	Fetal Stomach	stomach
41	chr1:161007800-161008400	Flanking Active TSS	GM12878-XiMat	blood
42	chr1:161007800-161008600	Flanking Active TSS	Thymus	Thymus
43	chr1:161007800-161008800	Active TSS	H1 Cell Line	embryonic stem cell
44	chr1:161007800-161008800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:161007800-161009000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:161007800-161009000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:161007800-161009000	Active TSS	Brain Hippocampus Middle	brain
48	chr1:161007800-161009000	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:161007800-161009000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr1:161007800-161009000	Active TSS	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links