Variant report

Variant	rs751747
Chromosome Location	chr1:227920218-227920219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:227910908-227920562	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:227914982-227921463	K562	blood:	n/a	n/a
3	POLR2A	chr1:227910941-227920625	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr1:227920138-227920282	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:227920018-227920602	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr1:227918934-227920392	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr1:227920048-227920802	GM12892	blood:	n/a	n/a
8	HMGN3	chr1:227920051-227920227	K562	blood:	n/a	n/a
9	POLR2A	chr1:227915658-227920836	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:227914462-227920881	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:227914027-227920701	GM12891	blood:	n/a	n/a
12	POLR2A	chr1:227916211-227920587	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr1:227915700-227921841	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:227914208-227920934	K562	blood:	n/a	n/a
15	POLR2A	chr1:227915624-227920666	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr1:227916775-227920355	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr1:227916242-227920809	GM12892	blood:	n/a	n/a
18	POLR2A	chr1:227915660-227921896	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:227916264-227920310	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:227915672-227920956	HEK293	kidney:	n/a	n/a
21	POLR2A	chr1:227920083-227920238	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:227916255-227921984	K562	blood:	n/a	n/a
23	POLR2A	chr1:227916827-227921915	GM12878	blood:	n/a	n/a
24	POLR2A	chr1:227916248-227922017	SK-N-MC	brain:	n/a	n/a
25	POLR2A	chr1:227920210-227920529	K562	blood:	n/a	n/a
26	POLR2A	chr1:227915744-227920847	GM18505	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227917727..227921370-chr1:227944241..227947517,4	MCF-7	breast:
2	chr1:227918805..227924684-chr1:227929963..227939883,12	K562	blood:
3	chr1:227919572..227920424-chr3:50273473..50274015,2	NB4	blood:
4	chr1:227754198..227755750-chr1:227920040..227921876,2	K562	blood:
5	chr1:227917861..227920741-chr1:228675887..228677861,2	MCF-7	breast:
6	chr1:227672982..227674850-chr1:227918666..227921281,2	MCF-7	breast:
7	chr1:227919994..227921711-chr6:43019722..43021797,2	MCF-7	breast:
8	chr1:227916221..227923035-chr1:228131852..228141791,18	MCF-7	breast:

No data

Variant related genes	Relation type
SNAP47	TF binding region
ENSG00000114353	Chromatin interaction
ENSG00000168159	Chromatin interaction
ENSG00000230005	Chromatin interaction
ENSG00000143816	Chromatin interaction
ENSG00000143740	Chromatin interaction
ENSG00000044090	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12118505	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv515496	chr1:227912474-227967938	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv3387540	chr1:227919379-227922177	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	n/a
9	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr1:227916800-227921600	Weak transcription	HUVEC	blood vessel
2	chr1:227917000-227921000	Weak transcription	Hela-S3	cervix
3	chr1:227917000-227921800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:227917000-227921800	Weak transcription	Psoas Muscle	Psoas
5	chr1:227917200-227920400	Genic enhancers	Spleen	Spleen
6	chr1:227917200-227921400	Weak transcription	Fetal Brain Male	brain
7	chr1:227917200-227921400	Weak transcription	NH-A	brain
8	chr1:227917200-227921600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:227917200-227921600	Weak transcription	Stomach Mucosa	stomach
10	chr1:227917200-227922000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:227917400-227921400	Weak transcription	Primary B cells from cord blood	blood
12	chr1:227917400-227921400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:227917600-227921400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:227917800-227921400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:227918000-227921600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:227918200-227921200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:227918200-227921800	Genic enhancers	Fetal Muscle Leg	muscle
18	chr1:227918400-227921000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:227918400-227921200	Strong transcription	Fetal Stomach	stomach
20	chr1:227918400-227921200	Strong transcription	Thymus	Thymus
21	chr1:227918400-227921800	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr1:227918400-227922000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:227918600-227920400	Weak transcription	NHDF-Ad	bronchial
24	chr1:227918600-227920600	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:227918600-227921000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:227918600-227921000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:227918600-227921000	Strong transcription	Esophagus	oesophagus
28	chr1:227918600-227921200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:227918600-227921200	Strong transcription	HSMMtube	muscle
30	chr1:227918600-227921200	Strong transcription	NHEK	skin
31	chr1:227918600-227921400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:227918600-227921400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:227918600-227921400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:227918600-227921400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:227918600-227921400	Strong transcription	K562	blood
36	chr1:227918600-227921400	Strong transcription	NHLF	lung
37	chr1:227918600-227921600	Weak transcription	Right Atrium	heart
38	chr1:227918600-227921600	Strong transcription	A549	lung
39	chr1:227918600-227921600	Weak transcription	HSMM	muscle
40	chr1:227918600-227922000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:227918600-227922000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr1:227918800-227920400	Strong transcription	Right Ventricle	heart
43	chr1:227918800-227920600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:227918800-227920600	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr1:227918800-227920600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:227918800-227920800	Strong transcription	Gastric	stomach
47	chr1:227918800-227921000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:227918800-227921000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:227918800-227921000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:227918800-227921000	Strong transcription	Adipose Nuclei	Adipose

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