Variant report

Variant	rs80248252
Chromosome Location	chr7:149411062-149411063
allele	C/G
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	SETDB1	chr7:149410362-149411829	K562	blood:	n/a	chr7:149411590-149411614
2	E2F6	chr7:149410854-149411771	H1-hESC	embryonic stem cell:	n/a	chr7:149410926-149410933 chr7:149411480-149411489 chr7:149410988-149410997
3	MAX	chr7:149411025-149412523	GM12878	blood:	n/a	chr7:149411976-149411986
4	MXI1	chr7:149410868-149412535	IMR90	lung:	n/a	n/a
5	HMGN3	chr7:149410882-149412361	K562	blood:	n/a	n/a
6	CBX3	chr7:149411059-149411911	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:149410803..149414471-chr7:149419495..149421257,3	K562	blood:
2	chr7:149409957..149411791-chr7:149503300..149505720,2	K562	blood:
3	chr7:149319988..149323136-chr7:149410219..149413557,5	MCF-7	breast:
4	chr7:149320427..149322240-chr7:149410795..149412793,2	MCF-7	breast:
5	chr7:149404563..149406665-chr7:149410046..149411714,2	MCF-7	breast:
6	chr7:149395110..149397446-chr7:149409565..149411278,3	K562	blood:
7	chr7:149395351..149398006-chr7:149410098..149411759,2	MCF-7	breast:

Variant related genes	Relation type
KRBA1	TF binding region
ENSG00000133624	Chromatin interaction
ENSG00000133619	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021849	chr7:149230929-149422239	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv465199	chr7:149398065-149462621	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv608979	chr7:149398065-149462621	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3359659	chr7:149410544-149413392	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
12	esv3424364	chr7:149410869-149412967	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149409200-149411200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:149410400-149411200	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr7:149410400-149412200	Enhancers	Fetal Brain Male	brain
4	chr7:149410600-149411200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:149410600-149411400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:149410800-149411200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr7:149410800-149411200	Enhancers	Primary B cells from cord blood	blood
8	chr7:149410800-149411200	Enhancers	Primary B cells from peripheral blood	blood
9	chr7:149410800-149411200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:149410800-149411200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:149410800-149411200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr7:149410800-149411200	Enhancers	Right Atrium	heart
13	chr7:149410800-149411400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr7:149410800-149411400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr7:149410800-149411400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:149410800-149411400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:149410800-149411400	Enhancers	Lung	lung
18	chr7:149410800-149411600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr7:149410800-149411600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr7:149410800-149411600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:149410800-149411600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:149410800-149411600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:149410800-149411800	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr7:149410800-149412600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr7:149410800-149412600	Active TSS	Brain Substantia Nigra	brain
26	chr7:149410800-149413000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr7:149411000-149411200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:149411000-149411200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:149411000-149411200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:149411000-149411200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:149411000-149411200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
32	chr7:149411000-149411200	Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr7:149411000-149411200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:149411000-149411200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr7:149411000-149411200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:149411000-149411200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:149411000-149411200	Enhancers	Colonic Mucosa	Colon
38	chr7:149411000-149411200	Enhancers	Esophagus	oesophagus
39	chr7:149411000-149411200	Enhancers	Fetal Lung	lung
40	chr7:149411000-149411200	Bivalent Enhancer	Fetal Stomach	stomach
41	chr7:149411000-149411200	Bivalent Enhancer	Fetal Thymus	thymus
42	chr7:149411000-149411200	Enhancers	Left Ventricle	heart
43	chr7:149411000-149411200	Enhancers	Pancreas	Pancrea
44	chr7:149411000-149411200	Enhancers	Spleen	Spleen
45	chr7:149411000-149411200	Enhancers	GM12878-XiMat	blood
46	chr7:149411000-149411200	Enhancers	HepG2	liver
47	chr7:149411000-149411200	Enhancers	HMEC	breast
48	chr7:149411000-149411200	Enhancers	K562	blood
49	chr7:149411000-149411200	Enhancers	NHEK	skin
50	chr7:149411000-149411200	Active TSS	Osteobl	bone

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