Variant report

Variant	rs542903309
Chromosome Location	chr1:161008105-161008106
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	POLR2A	chr1:161007957-161009036	GM12878	blood:	n/a	n/a
2	SIN3AK20	chr1:161007599-161009021	MCF-7	breast:	n/a	n/a
3	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
4	POLR2A	chr1:161007917-161009059	GM12891	blood:	n/a	n/a
5	TEAD4	chr1:161007992-161009049	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr1:161008050-161009032	ECC-1	luminal epithelium:	n/a	n/a
7	STAT5A	chr1:161007852-161009029	GM12878	blood:	n/a	chr1:161008902-161008925
8	SPI1	chr1:161007909-161008154	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr1:161007947-161008997	MCF-7	breast:	n/a	n/a
10	POLR2A	chr1:161008039-161009078	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr1:161007953-161009085	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr1:161007856-161009025	GM12878	blood:	n/a	n/a
13	MXI1	chr1:161007229-161009255	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr1:161008050-161008955	H1-hESC	embryonic stem cell:	n/a	n/a
15	GABPA	chr1:161007934-161009070	MCF-7	breast:	n/a	n/a
16	YY1	chr1:161007967-161008938	ECC-1	luminal epithelium:	n/a	chr1:161008802-161008816 chr1:161008788-161008802 chr1:161008802-161008811 chr1:161008799-161008808
17	POLR2A	chr1:161008032-161009048	GM18505	blood:	n/a	n/a
18	POLR2A	chr1:161007975-161009027	GM12891	blood:	n/a	n/a
19	POLR2A	chr1:161007993-161008996	ECC-1	luminal epithelium:	n/a	n/a
20	MAX	chr1:161007890-161009065	MCF-7	breast:	n/a	n/a
21	TCF12	chr1:161007865-161009154	ECC-1	luminal epithelium:	n/a	n/a
22	TAF1	chr1:161007973-161009041	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr1:161007952-161009070	HCT-116	colon:	n/a	n/a
24	POLR2A	chr1:161007901-161009065	HCT-116	colon:	n/a	n/a
25	ZBTB7A	chr1:161007818-161008913	ECC-1	luminal epithelium:	n/a	chr1:161008582-161008589
26	POLR2A	chr1:161008029-161008828	Hela-S3	cervix:	n/a	n/a
27	MAX	chr1:161007854-161009199	HCT-116	colon:	n/a	n/a
28	YY1	chr1:161008005-161008881	ECC-1	luminal epithelium:	n/a	chr1:161008802-161008816 chr1:161008788-161008802 chr1:161008802-161008811 chr1:161008799-161008808
29	EGR1	chr1:161008035-161009241	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
30	GABPA	chr1:161007750-161009314	MCF-7	breast:	n/a	n/a
31	POLR2A	chr1:161007900-161009026	GM12891	blood:	n/a	n/a
32	POLR2A	chr1:161008091-161009040	GM15510	blood:	n/a	n/a
33	POLR2A	chr1:161007889-161009040	MCF-7	breast:	n/a	n/a
34	POU2F2	chr1:161008042-161009029	GM12891	blood:	n/a	chr1:161008804-161008816 chr1:161008807-161008819
35	POLR2A	chr1:161007892-161008316	K562	blood:	n/a	n/a
36	TCF12	chr1:161007837-161009074	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr1:161007982-161009026	HCT-116	colon:	n/a	n/a
38	POLR2A	chr1:161007554-161008989	K562	blood:	n/a	n/a
39	POLR2A	chr1:161007823-161008177	GM12878	blood:	n/a	n/a
40	GATA3	chr1:161007853-161008321	T-47D	breast:	n/a	n/a
41	POLR2A	chr1:161007841-161009037	GM12892	blood:	n/a	n/a
42	NFIC	chr1:161008056-161009063	GM12878	blood:	n/a	n/a
43	NFIC	chr1:161007792-161009048	ECC-1	luminal epithelium:	n/a	n/a
44	ELF1	chr1:161007973-161009125	MCF-7	breast:	n/a	chr1:161008641-161008653
45	POLR2A	chr1:161007998-161009063	GM12891	blood:	n/a	n/a
46	PML	chr1:161008046-161009117	GM12878	blood:	n/a	n/a
47	POLR2A	chr1:161008052-161009051	MCF-7	breast:	n/a	n/a
48	POLR2A	chr1:161007920-161008972	K562	blood:	n/a	n/a
49	NFIC	chr1:161007755-161009089	ECC-1	luminal epithelium:	n/a	n/a
50	MTA3	chr1:161007542-161009032	GM12878	blood:	n/a	n/a

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
ENSG00000158796	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000143222	Chromatin interaction
ENSG00000143217	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000158769	Chromatin interaction
ENSG00000162755	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161003000-161008200	Weak transcription	Osteobl	bone
2	chr1:161003200-161008800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:161004000-161009200	Weak transcription	Hela-S3	cervix
4	chr1:161005000-161009400	Weak transcription	K562	blood
5	chr1:161005800-161008200	Weak transcription	Right Ventricle	heart
6	chr1:161005800-161008200	Weak transcription	NHLF	lung
7	chr1:161006000-161008200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:161006600-161008200	Weak transcription	Brain Angular Gyrus	brain
9	chr1:161007000-161009200	Weak transcription	NHDF-Ad	bronchial
10	chr1:161007000-161013400	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:161007200-161008200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:161007200-161008200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:161007200-161008200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:161007200-161008200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:161007200-161008200	Enhancers	Fetal Heart	heart
16	chr1:161007200-161008200	Enhancers	Stomach Mucosa	stomach
17	chr1:161007200-161008800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:161007200-161009000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr1:161007400-161008200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:161007400-161008200	Active TSS	Muscle Satellite Cultured Cells	--
21	chr1:161007400-161008200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:161007400-161008200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:161007400-161008200	Strong transcription	Brain Substantia Nigra	brain
24	chr1:161007400-161008200	Enhancers	Fetal Lung	lung
25	chr1:161007400-161008200	Enhancers	Gastric	stomach
26	chr1:161007400-161008400	Flanking Active TSS	Fetal Brain Female	brain
27	chr1:161007400-161008600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:161007400-161009000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr1:161007400-161009200	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr1:161007400-161009200	Active TSS	Rectal Smooth Muscle	rectum
31	chr1:161007400-161013400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:161007400-161013400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:161007400-161013400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:161007400-161013400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:161007600-161008200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:161007600-161008200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:161007600-161008200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr1:161007600-161008200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:161007600-161008200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr1:161007600-161008200	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr1:161007600-161008200	Flanking Active TSS	Esophagus	oesophagus
42	chr1:161007600-161008200	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr1:161007600-161008200	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr1:161007600-161008200	Flanking Active TSS	HSMM	muscle
45	chr1:161007600-161008400	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr1:161007600-161008400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr1:161007600-161008400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr1:161007600-161008400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:161007600-161008400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:161007600-161008400	Flanking Active TSS	Pancreas	Pancrea

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