Variant report

Variant	rs818582
Chromosome Location	chr7:16688146-16688147
allele	A/C
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	chr7:16688114-16688494	K562	blood:	n/a	n/a
2	EGR1	chr7:16688122-16688451	K562	blood:	n/a	n/a
3	POLR2A	chr7:16684272-16688414	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr7:16688073-16689297	MCF10A-Er-Src	breast:	n/a	chr7:16688982-16688993
5	STAT3	chr7:16687928-16689178	MCF10A-Er-Src	breast:	n/a	chr7:16688982-16688993
6	STAT3	chr7:16687911-16689178	MCF10A-Er-Src	breast:	n/a	chr7:16688982-16688993
7	POLR2A	chr7:16688136-16689057	K562	blood:	n/a	n/a
8	JUND	chr7:16687955-16688521	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:16687442..16689722-chr7:16734234..16736098,2	MCF-7	breast:
2	chr7:16687122..16688978-chr7:16834691..16836513,2	MCF-7	breast:
3	chr7:16685077..16688645-chr7:16790567..16794834,4	K562	blood:
4	chr7:16688097..16689727-chr7:16700872..16702625,2	MCF-7	breast:
5	chr7:16302428..16304569-chr7:16686662..16689057,2	K562	blood:
6	chr7:16686702..16688668-chr7:16746976..16749655,2	K562	blood:

Variant related genes	Relation type
ANKMY2	TF binding region
ENSG00000106537	Chromatin interaction
ENSG00000136261	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10228088	1.00[CEU][hapmap]
rs10228338	1.00[CEU][hapmap]
rs10260136	1.00[CEU][hapmap]
rs10273406	1.00[CEU][hapmap]
rs10282680	1.00[CEU][hapmap]
rs2177784	1.00[CEU][hapmap]
rs2691547	1.00[AMR][1000 genomes]
rs6968207	1.00[CEU][hapmap]
rs7777674	1.00[CEU][hapmap]
rs7802611	1.00[CEU][hapmap]
rs818492	1.00[CEU][hapmap]
rs818584	1.00[CEU][hapmap]
rs9690166	1.00[CEU][hapmap]

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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats 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	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16684400-16688200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr7:16684600-16688800	Active TSS	Placenta	Placenta
3	chr7:16686400-16689000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:16686600-16688400	Flanking Active TSS	Dnd41	blood
5	chr7:16686600-16688600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:16686600-16688800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr7:16686600-16689400	Flanking Active TSS	HUVEC	blood vessel
8	chr7:16686600-16691600	Weak transcription	Pancreas	Pancrea
9	chr7:16686600-16705800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:16686800-16688200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:16686800-16688600	Flanking Active TSS	NHEK	skin
12	chr7:16686800-16688800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:16686800-16688800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr7:16686800-16689000	Flanking Active TSS	Osteobl	bone
15	chr7:16686800-16689200	Enhancers	Small Intestine	intestine
16	chr7:16686800-16689200	Flanking Active TSS	A549	lung
17	chr7:16686800-16689200	Flanking Active TSS	Hela-S3	cervix
18	chr7:16686800-16690000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:16686800-16691600	Weak transcription	Esophagus	oesophagus
20	chr7:16686800-16697400	Weak transcription	Ovary	ovary
21	chr7:16686800-16700800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:16686800-16734400	Weak transcription	Lung	lung
23	chr7:16687000-16688200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr7:16687000-16688200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:16687000-16688400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:16687000-16688800	Enhancers	Stomach Mucosa	stomach
27	chr7:16687000-16689000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr7:16687000-16689400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:16687200-16688200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr7:16687200-16688400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr7:16687200-16689000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:16687200-16689000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:16687200-16689000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr7:16687200-16689200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:16687200-16689400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:16687200-16689400	Enhancers	Fetal Intestine Large	intestine
37	chr7:16687400-16688200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:16687400-16688200	Enhancers	Fetal Intestine Small	intestine
39	chr7:16687400-16688400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr7:16687400-16688800	Enhancers	Duodenum Mucosa	Duodenum
41	chr7:16687400-16689000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr7:16687400-16689000	Enhancers	Primary hematopoietic stem cells	blood
43	chr7:16687400-16689000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:16687400-16689000	Enhancers	Brain Hippocampus Middle	brain
45	chr7:16687400-16689200	Transcr. at gene 5' and 3'	K562	blood
46	chr7:16687400-16689400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr7:16687400-16690000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr7:16687400-16690000	Weak transcription	Right Atrium	heart
49	chr7:16687400-16690600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:16687600-16688200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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