Variant report

Variant	rs544747447
Chromosome Location	chr1:211499617-211499618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:211499364-211502137	GM12892	blood:	n/a	n/a
2	MTA3	chr1:211499362-211500172	GM12878	blood:	n/a	n/a
3	BHLHE40	chr1:211499587-211501280	K562	blood:	n/a	n/a
4	RCOR1	chr1:211499598-211501242	K562	blood:	n/a	n/a
5	RUNX3	chr1:211499545-211501322	GM12878	blood:	n/a	n/a
6	MAX	chr1:211499608-211500786	K562	blood:	n/a	n/a
7	POLR2A	chr1:211499580-211500401	Raji	blood:	n/a	n/a
8	ZNF263	chr1:211499571-211501204	HEK293-T-REx	kidney:	n/a	n/a
9	POLR2A	chr1:211499601-211501246	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:211499559-211501436	GM18505	blood:	n/a	n/a
11	POLR2A	chr1:211499613-211501336	GM18951	blood:	n/a	n/a
12	POLR2A	chr1:211499432-211502951	GM12878	blood:	n/a	n/a
13	MAX	chr1:211499571-211500595	GM12878	blood:	n/a	n/a
14	CHD1	chr1:211499590-211500058	GM12878	blood:	n/a	n/a
15	MXI1	chr1:211499557-211501271	IMR90	lung:	n/a	n/a
16	RCOR1	chr1:211499555-211499956	Hela-S3	cervix:	n/a	n/a
17	YY1	chr1:211499520-211499951	GM12878	blood:	n/a	n/a
18	PML	chr1:211499444-211501292	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:211499613-211502726	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:211499538-211500064	GM12891	blood:	n/a	n/a
21	MAX	chr1:211499543-211500597	A549	lung:	n/a	n/a
22	TCF12	chr1:211499569-211500085	A549	lung:	n/a	n/a
23	POLR2A	chr1:211499603-211501356	GM19193	blood:	n/a	n/a
24	CBX3	chr1:211499466-211500404	K562	blood:	n/a	n/a
25	POLR2A	chr1:211499551-211503757	GM12891	blood:	n/a	n/a
26	POLR2A	chr1:211499587-211500612	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr1:211499543-211500214	GM12892	blood:	n/a	n/a
28	MAX	chr1:211499601-211500517	HepG2	liver:	n/a	n/a
29	MAZ	chr1:211499563-211501274	GM12878	blood:	n/a	chr1:211501187-211501197
30	POLR2A	chr1:211499540-211501451	GM12892	blood:	n/a	n/a
31	SMARCB1	chr1:211499616-211500771	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr1:211499617-211500812	Hela-S3	cervix:	n/a	n/a
33	MXI1	chr1:211499519-211500696	SK-N-SH	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211499136..211502907-chr1:211554932..211557555,4	K562	blood:
2	chr1:211429664..211435180-chr1:211498779..211503937,6	K562	blood:
3	chr1:211429664..211434083-chr1:211498779..211503937,6	K562	blood:

No data

Variant related genes	Relation type
TRAF5	TF binding region
ENSG00000117625	Chromatin interaction
ENSG00000153363	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3374121	chr1:211499154-211501702	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3347623	chr1:211499429-211501377	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211478600-211499800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:211486400-211500200	Weak transcription	Small Intestine	intestine
3	chr1:211487200-211499800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:211487200-211499800	Weak transcription	Aorta	Aorta
5	chr1:211487200-211499800	Weak transcription	Esophagus	oesophagus
6	chr1:211487200-211499800	Weak transcription	Ovary	ovary
7	chr1:211487200-211499800	Weak transcription	Right Ventricle	heart
8	chr1:211487200-211500200	Weak transcription	Spleen	Spleen
9	chr1:211487400-211499800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:211487400-211499800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:211487400-211499800	Weak transcription	HSMMtube	muscle
12	chr1:211499000-211500000	Flanking Active TSS	GM12878-XiMat	blood
13	chr1:211499200-211500000	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr1:211499400-211499800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr1:211499400-211499800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:211499400-211499800	Enhancers	Placenta	Placenta
17	chr1:211499400-211499800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:211499400-211499800	Enhancers	Stomach Mucosa	stomach
19	chr1:211499600-211499800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr1:211499600-211499800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:211499600-211499800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:211499600-211499800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:211499600-211499800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr1:211499600-211499800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
25	chr1:211499600-211499800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:211499600-211499800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:211499600-211499800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:211499600-211499800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:211499600-211499800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr1:211499600-211499800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr1:211499600-211499800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:211499600-211499800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:211499600-211499800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:211499600-211499800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:211499600-211499800	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr1:211499600-211499800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
37	chr1:211499600-211499800	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr1:211499600-211499800	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr1:211499600-211499800	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr1:211499600-211499800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr1:211499600-211499800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
42	chr1:211499600-211499800	Enhancers	Fetal Stomach	stomach
43	chr1:211499600-211499800	Enhancers	Gastric	stomach
44	chr1:211499600-211499800	Enhancers	Right Atrium	heart
45	chr1:211499600-211499800	Flanking Active TSS	A549	lung
46	chr1:211499600-211499800	Enhancers	HUVEC	blood vessel
47	chr1:211499600-211500000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr1:211499600-211500000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
49	chr1:211499600-211500000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
50	chr1:211499600-211500000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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