Variant report

Variant	rs182264570
Chromosome Location	chr7:12444376-12444377
allele	C/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	RCOR1	chr7:12443006-12444411	K562	blood:	n/a	n/a
2	POLR2A	chr7:12442976-12444516	K562	blood:	n/a	n/a
3	MYC	chr7:12442849-12444429	K562	blood:	n/a	chr7:12443233-12443242
4	POLR2A	chr7:12442849-12444540	K562	blood:	n/a	n/a
5	MAX	chr7:12442884-12444453	K562	blood:	n/a	chr7:12443233-12443242
6	POLR2A	chr7:12442875-12444428	K562	blood:	n/a	n/a
7	EP300	chr7:12444356-12444390	K562	blood:	n/a	n/a
8	POLR2A	chr7:12442779-12444617	K562	blood:	n/a	n/a
9	MAX	chr7:12442718-12444384	HCT-116	colon:	n/a	chr7:12443233-12443242
10	POLR2A	chr7:12442500-12444710	K562	blood:	n/a	n/a
11	MXI1	chr7:12442243-12444388	SK-N-SH	brain:	n/a	n/a
12	MYC	chr7:12442775-12444425	K562	blood:	n/a	chr7:12443233-12443242
13	POLR2A	chr7:12442749-12444633	K562	blood:	n/a	n/a
14	POLR2A	chr7:12442840-12444635	K562	blood:	n/a	n/a
15	POLR2A	chr7:12442556-12444467	K562	blood:	n/a	n/a
16	MAX	chr7:12442982-12444439	K562	blood:	n/a	chr7:12443233-12443242
17	E2F6	chr7:12443087-12444423	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12414352..12417133-chr7:12443944..12445537,2	K562	blood:

Variant related genes	Relation type
VWDE	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv1029941	chr7:12351595-12444490	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1034475	chr7:12352210-12444490	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv464373	chr7:12406826-12536336	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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
8	nsv606224	chr7:12406826-12536336	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv887635	chr7:12410112-12474635	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv887636	chr7:12424405-12498138	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv887637	chr7:12424405-12508894	Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv887638	chr7:12424405-12519212	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv464375	chr7:12428803-12505373	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	nsv606226	chr7:12428803-12505373	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	nsv464376	chr7:12429488-12526282	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
16	nsv606227	chr7:12429488-12526282	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	nsv971508	chr7:12431973-12446365	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv516511	chr7:12439672-12479584	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
19	esv3345043	chr7:12444366-12444758	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12438800-12445400	Active TSS	K562	blood
2	chr7:12439600-12444400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:12442400-12444400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:12443400-12444400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:12443600-12444400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:12443600-12444600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:12443600-12444600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:12443800-12444400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr7:12443800-12444400	Enhancers	Esophagus	oesophagus
10	chr7:12443800-12444400	Enhancers	Lung	lung
11	chr7:12443800-12444400	Active TSS	A549	lung
12	chr7:12443800-12444600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr7:12443800-12444600	Enhancers	Gastric	stomach
14	chr7:12444000-12444400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:12444000-12444400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr7:12444000-12444400	Enhancers	Placenta	Placenta
17	chr7:12444000-12444400	Bivalent Enhancer	HepG2	liver
18	chr7:12444000-12444400	Enhancers	HMEC	breast
19	chr7:12444000-12444400	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr7:12444000-12444600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:12444200-12444400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr7:12444200-12444400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
23	chr7:12444200-12444400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr7:12444200-12444400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr7:12444200-12444400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:12444200-12444400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:12444200-12444400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
28	chr7:12444200-12444600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:12444200-12444600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links