Variant report

Variant	rs72607858
Chromosome Location	chr4:77905198-77905199
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:77905120-77905270	NHDF-neo	bronchial:	n/a	n/a
2	CTCF	chr4:77905120-77905270	GM12874	blood:	n/a	n/a
3	MXI1	chr4:77905055-77906673	IMR90	lung:	n/a	n/a
4	MTA3	chr4:77905132-77905878	GM12878	blood:	n/a	n/a
5	MXI1	chr4:77905049-77906817	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:77902465..77905363-chr4:77905756..77910495,7	K562	blood:
2	chr4:77868707..77872167-chr4:77902986..77905769,6	K562	blood:
3	chr4:77903235..77905605-chr4:77996534..77999278,2	K562	blood:
4	chr4:77889376..77894977-chr4:77900561..77905998,5	MCF-7	breast:
5	chr4:77869656..77871410-chr4:77904017..77905794,3	MCF-7	breast:
6	chr4:77869178..77872250-chr4:77903931..77909073,6	MCF-7	breast:
7	chr4:77870667..77872257-chr4:77902863..77905769,2	K562	blood:

No data

Variant related genes	Relation type
SEPT11	TF binding region
ENSG00000138758	Chromatin interaction
ENSG00000118816	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1532449	0.83[EUR][1000 genomes]
rs2645669	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2645671	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2645698	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2645702	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2703103	0.83[EUR][1000 genomes]
rs6822843	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72607857	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72607860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73826488	0.83[EUR][1000 genomes]
rs7696359	1.00[EUR][1000 genomes]
rs904045	1.00[EUR][1000 genomes]

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77876800-77906000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:77882200-77905200	Weak transcription	Fetal Intestine Large	intestine
3	chr4:77891200-77905600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:77891600-77907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:77891800-77905200	Weak transcription	Brain Substantia Nigra	brain
6	chr4:77893000-77906600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:77893200-77918800	Weak transcription	A549	lung
8	chr4:77895200-77905600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:77897800-77905400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:77899000-77908400	Enhancers	Adipose Nuclei	Adipose
11	chr4:77899200-77907600	Enhancers	Placenta	Placenta
12	chr4:77899600-77905600	Genic enhancers	HSMM	muscle
13	chr4:77899600-77917000	Weak transcription	Colonic Mucosa	Colon
14	chr4:77899800-77905800	Weak transcription	Aorta	Aorta
15	chr4:77899800-77906000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:77899800-77915200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:77900200-77905600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:77900200-77905600	Weak transcription	NHEK	skin
19	chr4:77900200-77906000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:77900400-77905800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:77900600-77905400	Weak transcription	Thymus	Thymus
22	chr4:77900600-77906000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:77900600-77909000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr4:77901400-77907000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:77901400-77908400	Enhancers	Fetal Muscle Leg	muscle
26	chr4:77901600-77908400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr4:77901800-77905400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr4:77901800-77905400	Genic enhancers	HSMMtube	muscle
29	chr4:77901800-77905600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:77901800-77905600	Enhancers	Fetal Lung	lung
31	chr4:77902000-77907200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:77902000-77908400	Enhancers	Duodenum Mucosa	Duodenum
33	chr4:77902200-77905600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:77902200-77906600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr4:77902400-77907000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr4:77902400-77910000	Enhancers	Primary T cells from cord blood	blood
37	chr4:77902600-77905600	Enhancers	NH-A	brain
38	chr4:77902600-77906200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr4:77902600-77906200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:77902600-77908800	Enhancers	Brain Germinal Matrix	brain
41	chr4:77902800-77905200	Weak transcription	Fetal Brain Female	brain
42	chr4:77902800-77905600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:77902800-77905800	Weak transcription	Fetal Brain Male	brain
44	chr4:77903000-77905200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:77903000-77906600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr4:77903000-77906600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr4:77903000-77906800	Enhancers	Primary T cells fromperipheralblood	blood
48	chr4:77903000-77906800	Enhancers	Fetal Thymus	thymus
49	chr4:77903200-77905200	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr4:77903200-77905400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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