Variant report

Variant	rs548648571
Chromosome Location	chr7:97496255-97496256
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	POLR2A	chr7:97494478-97496557	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:97495552-97496525	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:97496202-97496389	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:97495940-97496311	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:97495491-97496525	K562	blood:	n/a	n/a
6	POLR2A	chr7:97495628-97496571	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr7:97480607-97497455	K562	blood:	n/a	n/a
8	POLR2A	chr7:97496008-97496343	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97494814..97497659-chr7:97498780..97501384,2	MCF-7	breast:
2	chr7:97495363..97496869-chr8:47517938..47519464,2	K562	blood:

Variant related genes	Relation type
ENSG00000226744	TF binding region
ENSG00000226744	Chromatin interaction
ENSG00000070669	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv428178	chr7:97402756-97648029	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758124	chr7:97476284-97648029	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759546	chr7:97476284-97648029	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv970554	chr7:97489362-97500692	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3507291	chr7:97495616-97497664	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3477399	chr7:97496198-97496777	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3368841	chr7:97496216-97496747	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3507289	chr7:97496222-97496777	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3507288	chr7:97496245-97496704	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3477400	chr7:97496254-97496743	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97477600-97500600	Weak transcription	Thymus	Thymus
2	chr7:97479000-97501000	Weak transcription	Fetal Intestine Large	intestine
3	chr7:97479200-97500800	Weak transcription	Right Ventricle	heart
4	chr7:97479400-97501000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:97479400-97501000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:97479600-97501000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:97479800-97500200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:97480200-97500600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:97480600-97498200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:97480600-97498200	Strong transcription	K562	blood
11	chr7:97480600-97498600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:97480800-97498400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:97481000-97500600	Weak transcription	NHDF-Ad	bronchial
14	chr7:97481200-97498000	Weak transcription	Fetal Brain Male	brain
15	chr7:97481400-97500600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:97481400-97500600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:97481400-97500600	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:97481400-97501000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:97481800-97500800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:97481800-97501000	Weak transcription	Fetal Intestine Small	intestine
21	chr7:97481800-97501000	Weak transcription	Gastric	stomach
22	chr7:97481800-97501000	Weak transcription	Pancreas	Pancrea
23	chr7:97481800-97501000	Weak transcription	Spleen	Spleen
24	chr7:97482000-97498200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:97482200-97497800	Weak transcription	HMEC	breast
26	chr7:97482800-97500800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:97483600-97500600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:97483600-97500800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:97483800-97500800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:97484000-97500400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:97484200-97500600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:97484200-97501000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr7:97484600-97501000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:97485800-97497000	Weak transcription	Hela-S3	cervix
35	chr7:97486200-97500800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:97486200-97501000	Weak transcription	Fetal Lung	lung
37	chr7:97486600-97501000	Weak transcription	Small Intestine	intestine
38	chr7:97487200-97500800	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:97487600-97497800	Weak transcription	Brain Anterior Caudate	brain
40	chr7:97487800-97498000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:97487800-97499400	Weak transcription	Brain Hippocampus Middle	brain
42	chr7:97487800-97499800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr7:97487800-97500200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr7:97487800-97500400	Weak transcription	Brain Angular Gyrus	brain
45	chr7:97487800-97500600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr7:97487800-97500600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr7:97487800-97500600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:97487800-97500800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:97487800-97500800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:97487800-97500800	Weak transcription	Adipose Nuclei	Adipose

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