Variant report

Variant	rs1175647
Chromosome Location	chr1:113008258-113008259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:113006438-113009689	U87	brain:	n/a	n/a
2	POLR2A	chr1:113007703-113009353	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:113007714-113009294	U87	brain:	n/a	n/a
4	POLR2A	chr1:113006420-113009752	U87	brain:	n/a	n/a
5	SMC3	chr1:113007634-113010291	SK-N-SH	brain:	n/a	chr1:113008925-113008939 chr1:113008925-113008935
6	MXI1	chr1:113007788-113009348	IMR90	lung:	n/a	n/a
7	POLR2A	chr1:113007911-113009333	ProgFib	skin:	n/a	n/a
8	POLR2A	chr1:113007647-113010099	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr1:113007871-113009242	GM12878	blood:	n/a	n/a
10	MXI1	chr1:113008097-113009748	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr1:113007714-113009340	U87	brain:	n/a	n/a
12	POLR2A	chr1:113007671-113008384	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr1:113006142-113009391	HUVEC	blood vessel:	n/a	n/a
14	MAX	chr1:113008231-113009111	Hela-S3	cervix:	n/a	chr1:113008830-113008840
15	POLR2A	chr1:113006630-113010006	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr1:113006829-113010068	HUVEC	blood vessel:	n/a	n/a
17	MYC	chr1:113008244-113009090	K562	blood:	n/a	chr1:113008830-113008840
18	POLR2A	chr1:113006410-113009200	Hela-S3	cervix:	n/a	n/a
19	MAZ	chr1:113007784-113009736	IMR90	lung:	n/a	n/a
20	POLR2A	chr1:113008164-113009258	SK-N-SH	brain:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:112936667..112940657-chr1:113004024..113011069,20	MCF-7	breast:
2	chr1:112938816..112939379-chr1:113008164..113008978,2	MCF-7	breast:
3	chr1:112970426..112972639-chr1:113007382..113009000,2	MCF-7	breast:
4	chr1:113005895..113008682-chr1:113248118..113250276,4	MCF-7	breast:
5	chr1:113002255..113010411-chr1:113160144..113164475,13	MCF-7	breast:
6	chr1:112935548..112944315-chr1:113002393..113010397,28	MCF-7	breast:
7	chr1:113005689..113009641-chr1:113216362..113218803,3	MCF-7	breast:
8	chr1:113007700..113008504-chr19:37708524..37709184,2	Hela-S3	cervix:
9	chr1:113003059..113010084-chr1:113159503..113164005,9	MCF-7	breast:
10	chr1:113006953..113008825-chr1:113243522..113245594,2	MCF-7	breast:
11	chr1:113000439..113002473-chr1:113006145..113008563,2	MCF-7	breast:
12	chr1:113006478..113010487-chr1:113159582..113162671,3	K562	blood:
13	chr1:112970749..112973658-chr1:113006314..113008591,2	K562	blood:
14	chr1:112930286..112934243-chr1:113005745..113008841,3	MCF-7	breast:
15	chr1:113006478..113009017-chr1:113160581..113162671,2	K562	blood:
16	chr1:112961598..112963663-chr1:113006569..113008667,2	MCF-7	breast:

No data

Variant related genes	Relation type
WNT2B	TF binding region
ENSG00000188283	Chromatin interaction
ENSG00000155363	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000155366	Chromatin interaction
ENSG00000245680	Chromatin interaction
ENSG00000143079	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1175627	0.82[AFR][1000 genomes]
rs1175638	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1175644	0.82[AFR][1000 genomes]
rs1759691	0.82[AFR][1000 genomes]
rs28634149	1.00[AMR][1000 genomes]
rs6690564	1.00[AMR][1000 genomes]

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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112988800-113008400	Weak transcription	A549	lung
2	chr1:112994600-113008800	Weak transcription	Psoas Muscle	Psoas
3	chr1:112994800-113008600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:113000000-113008400	Weak transcription	Pancreas	Pancrea
5	chr1:113000000-113008400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:113000000-113008400	Weak transcription	Dnd41	blood
7	chr1:113000200-113008600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:113000200-113009600	Weak transcription	Small Intestine	intestine
9	chr1:113000600-113008400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:113000800-113008400	Weak transcription	Right Ventricle	heart
11	chr1:113001200-113008600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:113001600-113008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:113001600-113008400	Weak transcription	Ovary	ovary
14	chr1:113001600-113008600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:113001600-113009000	Weak transcription	Aorta	Aorta
16	chr1:113002000-113008400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:113002800-113008600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:113004000-113009600	Enhancers	Placenta	Placenta
19	chr1:113004600-113008600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:113005000-113008400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:113005400-113008400	Enhancers	NHEK	skin
22	chr1:113005400-113008600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:113005600-113008600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:113006400-113008600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:113006400-113008600	Enhancers	Colonic Mucosa	Colon
26	chr1:113006400-113008800	Enhancers	Esophagus	oesophagus
27	chr1:113006400-113009400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:113006600-113008400	Enhancers	Brain Hippocampus Middle	brain
29	chr1:113006600-113008400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr1:113006600-113008400	Weak transcription	K562	blood
31	chr1:113006600-113008600	Enhancers	HMEC	breast
32	chr1:113006800-113008600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:113006800-113008600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:113006800-113008600	Weak transcription	Thymus	Thymus
35	chr1:113006800-113009400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:113007000-113008400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
37	chr1:113007000-113008600	Enhancers	Duodenum Mucosa	Duodenum
38	chr1:113007000-113008800	Enhancers	Lung	lung
39	chr1:113007000-113009000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:113007000-113009000	Enhancers	HUVEC	blood vessel
41	chr1:113007200-113008400	Enhancers	Brain Anterior Caudate	brain
42	chr1:113007200-113008400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:113007200-113008600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr1:113007200-113008800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:113007200-113008800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:113007200-113009800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:113007400-113008400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr1:113007400-113008400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:113007400-113008400	Enhancers	Brain Substantia Nigra	brain
50	chr1:113007400-113008400	Weak transcription	Fetal Intestine Small	intestine

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