Variant report

Variant	rs557983448
Chromosome Location	chr7:150973182-150973183
allele	G/T
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	ZNF263	chr7:150972799-150975095	HEK293-T-REx	kidney:	n/a	chr7:150973492-150973501 chr7:150973635-150973644

No.	Distal block	Cell Line	Cell type
1	chr7:150971574..150973333-chr7:151038730..151040359,2	K562	blood:
2	chr7:150972599..150974856-chr7:151038814..151040776,2	MCF-7	breast:
3	chr7:150971574..150974411-chr7:151038667..151040359,3	K562	blood:
4	chr7:150941689..150943266-chr7:150971664..150974365,2	K562	blood:
5	chr7:150944159..150946342-chr7:150972887..150975150,2	MCF-7	breast:
6	chr7:150922541..150925891-chr7:150969834..150974111,4	K562	blood:
7	chr7:150809552..150813512-chr7:150971172..150974114,3	MCF-7	breast:

Variant related genes	Relation type
SMARCD3	TF binding region
ENSG00000082014	Chromatin interaction
ENSG00000033050	Chromatin interaction
ENSG00000013374	Chromatin interaction
ENSG00000133612	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
3	nsv465216	chr7:150951819-150991795	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv609036	chr7:150951819-150991795	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1023436	chr7:150967147-150997692	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv1022782	chr7:150970748-150992935	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv3403100	chr7:150972819-150975817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150950400-150973400	Weak transcription	Brain Substantia Nigra	brain
2	chr7:150960200-150973200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:150968000-150974000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:150968200-150973800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr7:150968400-150973200	Weak transcription	Brain Angular Gyrus	brain
6	chr7:150969000-150973400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:150969200-150973200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:150969600-150973200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:150969600-150973200	Weak transcription	Hela-S3	cervix
10	chr7:150970000-150973200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:150970000-150973400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:150970000-150974200	Weak transcription	Primary T cells from cord blood	blood
13	chr7:150970200-150973400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:150970400-150973400	Weak transcription	Adipose Nuclei	Adipose
15	chr7:150970600-150974000	Weak transcription	Left Ventricle	heart
16	chr7:150970800-150975000	Enhancers	Spleen	Spleen
17	chr7:150971400-150973200	Weak transcription	Fetal Heart	heart
18	chr7:150971600-150973200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:150971600-150973200	Enhancers	Pancreas	Pancrea
20	chr7:150971600-150973800	Weak transcription	Right Atrium	heart
21	chr7:150972000-150973400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:150972200-150973200	Enhancers	Stomach Smooth Muscle	stomach
23	chr7:150972200-150973600	Flanking Active TSS	Fetal Brain Female	brain
24	chr7:150972400-150973200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:150972400-150973400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:150972400-150973800	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr7:150972600-150973200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:150972600-150973200	Enhancers	Liver	Liver
29	chr7:150972600-150973200	Enhancers	Brain Hippocampus Middle	brain
30	chr7:150972600-150973200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
31	chr7:150972600-150973400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr7:150972600-150973400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr7:150972600-150973600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:150972600-150973600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:150972600-150973800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:150972600-150974000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:150972600-150974200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr7:150972800-150973200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:150972800-150973200	Bivalent Enhancer	NHEK	skin
40	chr7:150972800-150973400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:150972800-150973400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr7:150972800-150973400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr7:150972800-150973400	Enhancers	Esophagus	oesophagus
44	chr7:150972800-150973400	Enhancers	Fetal Lung	lung
45	chr7:150972800-150973600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
46	chr7:150972800-150973600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:150972800-150973600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr7:150972800-150973600	Enhancers	Colon Smooth Muscle	Colon
49	chr7:150972800-150973600	Enhancers	Ovary	ovary
50	chr7:150972800-150973800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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