Variant report

Variant	rs359658
Chromosome Location	chr7:127982333-127982334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr7:127982284-127983287	K562	blood:	n/a	n/a
2	MAX	chr7:127982324-127983133	K562	blood:	n/a	chr7:127982921-127982931
3	MXI1	chr7:127982002-127984736	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:127857539..127859442-chr7:127980846..127983357,2	K562	blood:
2	chr7:127980838..127984024-chr7:128045373..128047689,4	K562	blood:
3	chr7:127981986..127985324-chr7:128043786..128047324,3	K562	blood:
4	chr7:127981006..127985181-chr7:128044302..128047781,3	MCF-7	breast:
5	chr7:127982050..127985267-chr7:128038524..128041227,4	K562	blood:
6	chr7:127982196..127985036-chr7:128048348..128051893,5	MCF-7	breast:
7	chr7:127981540..127985237-chr7:128094279..128097407,4	K562	blood:
8	chr7:127973213..127977895-chr7:127980902..127985287,5	MCF-7	breast:

No data

Variant related genes	Relation type
RNU7-27P	TF binding region
ENSG00000240758	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000106348	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3750035	0.87[ASN][1000 genomes]
rs57744343	0.80[ASN][1000 genomes]
rs6967469	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127953800-127982600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:127955800-127982800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:127976000-127982800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:127976600-127982400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:127977000-127982400	Weak transcription	Colonic Mucosa	Colon
6	chr7:127977200-127982800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:127977400-127982400	Weak transcription	Esophagus	oesophagus
8	chr7:127977400-127982400	Weak transcription	Spleen	Spleen
9	chr7:127977600-127983200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:127978000-127982400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:127978600-127982400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:127978800-127982400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:127978800-127982600	Weak transcription	NH-A	brain
14	chr7:127979000-127982400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:127979200-127982600	Weak transcription	Brain Anterior Caudate	brain
16	chr7:127979400-127982400	Weak transcription	NHDF-Ad	bronchial
17	chr7:127979800-127982400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:127979800-127982400	Weak transcription	Fetal Intestine Large	intestine
19	chr7:127979800-127982600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:127980000-127982400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:127980000-127982400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:127980000-127982400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:127980000-127982400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:127980000-127982400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:127980000-127982600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:127980200-127982600	Weak transcription	Placenta	Placenta
27	chr7:127980600-127982600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr7:127980800-127982400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:127980800-127982600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr7:127980800-127982800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr7:127981000-127982600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:127981200-127982400	Genic enhancers	NHEK	skin
33	chr7:127981200-127982800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr7:127981200-127982800	Enhancers	Liver	Liver
35	chr7:127981200-127982800	Enhancers	Brain Angular Gyrus	brain
36	chr7:127981200-127983200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:127981400-127982400	Enhancers	Aorta	Aorta
38	chr7:127981400-127982400	Enhancers	HMEC	breast
39	chr7:127981400-127982600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:127981400-127982600	Genic enhancers	Primary hematopoietic stem cells	blood
41	chr7:127981400-127982600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:127981400-127982600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr7:127981400-127982600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr7:127981400-127982600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr7:127981400-127982600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr7:127981400-127982800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr7:127981400-127982800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr7:127981400-127982800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:127981600-127982400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:127981600-127982400	Enhancers	Primary T cells from cord blood	blood

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