Variant report

Variant	rs533703128
Chromosome Location	chr7:66311307-66311308
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:66310418-66311445	K562	blood:	n/a	n/a
2	HEY1	chr7:66309393-66311646	K562	blood:	n/a	n/a
3	POLR2A	chr7:66309387-66311373	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:66308321-66312999	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:66309154-66311361	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr7:66309415-66311591	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:66308488-66312871	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:66310438-66311572	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr7:66309633-66311406	K562	blood:	n/a	n/a
10	POLR2A	chr7:66309512-66311478	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66310072..66311941-chr7:66328440..66331303,2	MCF-7	breast:
2	chr7:66309584..66311542-chr7:66458819..66461691,3	K562	blood:
3	chr7:66308221..66311838-chr7:66312285..66316374,5	K562	blood:
4	chr7:66305123..66307515-chr7:66310267..66312023,2	K562	blood:
5	chr7:66310160..66312004-chr7:66384558..66386513,2	K562	blood:
6	chr7:66309053..66311838-chr7:66313170..66315306,3	K562	blood:
7	chr7:66145800..66148420-chr7:66309175..66311369,3	MCF-7	breast:
8	chr7:66310807..66313244-chr7:66448820..66450934,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD7-2	chr7:66310014-66311344	NONHSAT121231

No data

Variant related genes	Relation type
GTF2IRD1P1	TF binding region
ENSG00000232546	TF binding region
ENSG00000154710	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000198874	Chromatin interaction
ENSG00000232546	Chromatin interaction
ENSG00000126524	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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 target site	116 gene(s)	inside rSNPs	diseases
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv981514	chr7:66310139-66366240	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66310400-66337000	Weak transcription	Small Intestine	intestine
2	chr7:66310600-66311400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:66310600-66311400	Enhancers	Gastric	stomach
4	chr7:66310600-66311600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:66310600-66311800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:66310600-66313000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:66310600-66329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:66310800-66311400	Flanking Active TSS	HepG2	liver
9	chr7:66310800-66311400	Flanking Active TSS	K562	blood
10	chr7:66310800-66311600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:66310800-66311800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:66310800-66312000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:66310800-66312200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:66310800-66312800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:66310800-66312800	Weak transcription	Primary B cells from cord blood	blood
16	chr7:66310800-66312800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:66310800-66313200	Weak transcription	NH-A	brain
18	chr7:66310800-66314600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:66310800-66324800	Weak transcription	Brain Substantia Nigra	brain
20	chr7:66310800-66331600	Weak transcription	Ovary	ovary
21	chr7:66311000-66311400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr7:66311000-66311400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:66311000-66311400	Enhancers	Fetal Thymus	thymus
24	chr7:66311000-66311400	Enhancers	GM12878-XiMat	blood
25	chr7:66311000-66311600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:66311000-66312200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:66311000-66312200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr7:66311000-66312200	Weak transcription	HUVEC	blood vessel
29	chr7:66311000-66312200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr7:66311000-66312800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:66311000-66313000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:66311000-66313000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:66311000-66313000	Weak transcription	Osteobl	bone
34	chr7:66311000-66313200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:66311000-66313200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:66311000-66313200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:66311000-66313400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr7:66311000-66313400	Weak transcription	A549	lung
39	chr7:66311000-66313800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:66311000-66314000	Weak transcription	Fetal Intestine Small	intestine
41	chr7:66311000-66322400	Weak transcription	Placenta	Placenta
42	chr7:66311000-66323400	Weak transcription	Lung	lung
43	chr7:66311000-66323600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:66311000-66323600	Weak transcription	Primary T cells from cord blood	blood
45	chr7:66311000-66324200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr7:66311000-66324400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr7:66311000-66324600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr7:66311000-66324600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:66311000-66324600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:66311000-66324600	Weak transcription	Left Ventricle	heart

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