Variant report

Variant	rs570313992
Chromosome Location	chr1:224393380-224393381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224368986..224373517-chr1:224390991..224394171,5	MCF-7	breast:
2	chr1:224374669..224377400-chr1:224391823..224393961,2	K562	blood:
3	chr1:224386204..224388936-chr1:224390782..224393478,2	K562	blood:
4	chr1:224370663..224372600-chr1:224391702..224393896,2	K562	blood:
5	chr1:224392062..224394809-chr1:224425403..224428282,2	K562	blood:
6	chr1:224392534..224394870-chr1:224515641..224518461,2	K562	blood:
7	chr1:224391205..224393756-chr1:224397640..224399675,2	MCF-7	breast:
8	chr1:224387475..224389159-chr1:224391292..224393986,3	MCF-7	breast:
9	chr1:224392784..224394708-chr20:49347702..49350093,2	MCF-7	breast:
10	chr1:224391151..224394255-chr1:224397647..224399379,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232628	Chromatin interaction
ENSG00000143753	Chromatin interaction
ENSG00000143748	Chromatin interaction
ENSG00000124171	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS 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	30 gene(s)	inside rSNPs	diseases
4	esv3394698	chr1:224392129-224394152	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	esv7156	chr1:224392624-224393400	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	esv3339077	chr1:224392629-224393677	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224381600-224393400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:224389600-224414400	Weak transcription	Fetal Brain Female	brain
3	chr1:224390600-224393800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:224390600-224393800	Enhancers	Fetal Stomach	stomach
5	chr1:224390600-224394400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:224390800-224393400	Enhancers	Brain Germinal Matrix	brain
7	chr1:224390800-224393600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:224390800-224393600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:224390800-224393600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:224390800-224393800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:224390800-224393800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:224390800-224393800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:224390800-224393800	Enhancers	Placenta	Placenta
14	chr1:224390800-224394000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:224391000-224394000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:224391000-224394600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:224391400-224393400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:224391400-224393800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:224391600-224393400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:224391600-224394200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:224391600-224400000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:224391600-224400200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:224391600-224407000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:224391800-224393600	Enhancers	Left Ventricle	heart
25	chr1:224392000-224393400	Enhancers	Fetal Brain Male	brain
26	chr1:224392000-224393600	Enhancers	Lung	lung
27	chr1:224392000-224393600	Flanking Active TSS	Dnd41	blood
28	chr1:224392000-224393800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr1:224392200-224393400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:224392200-224393600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:224392200-224393600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:224392200-224393600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:224392200-224393600	Enhancers	Brain Hippocampus Middle	brain
34	chr1:224392200-224393800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:224392200-224393800	Enhancers	Fetal Thymus	thymus
36	chr1:224392200-224393800	Enhancers	HSMMtube	muscle
37	chr1:224392200-224394400	Enhancers	Fetal Intestine Small	intestine
38	chr1:224392200-224394400	Enhancers	Stomach Mucosa	stomach
39	chr1:224392400-224393400	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr1:224392400-224393400	Active TSS	Stomach Smooth Muscle	stomach
41	chr1:224392400-224393400	Active TSS	NHDF-Ad	bronchial
42	chr1:224392400-224393600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr1:224392400-224393600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr1:224392400-224393600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:224392400-224393600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:224392400-224393600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr1:224392400-224393600	Enhancers	Esophagus	oesophagus
48	chr1:224392400-224393600	Enhancers	Ovary	ovary
49	chr1:224392400-224393600	Enhancers	Pancreas	Pancrea
50	chr1:224392400-224393600	Enhancers	Sigmoid Colon	Sigmoid Colon

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