Variant report

Variant	rs4731514
Chromosome Location	chr7:128393533-128393534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128378239..128380642-chr7:128392473..128394616,2	MCF-7	breast:
2	chr7:128351405..128353237-chr7:128393080..128396026,2	K562	blood:
3	chr7:128381135..128385277-chr7:128392130..128395484,6	K562	blood:
4	chr7:128390811..128393664-chr7:128407116..128411123,3	K562	blood:
5	chr7:128393367..128395925-chr7:128470292..128473553,3	K562	blood:
6	chr7:128377433..128379653-chr7:128391931..128393746,2	K562	blood:

Variant related genes	Relation type
ENSG00000128591	Chromatin interaction
ENSG00000128595	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1809083	1.00[AMR][1000 genomes]
rs9801680	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128380400-128394400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:128380400-128401200	Weak transcription	Esophagus	oesophagus
3	chr7:128381400-128414600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:128381600-128415000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:128383800-128394000	Strong transcription	HSMM	muscle
6	chr7:128384000-128397400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr7:128384000-128415000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:128385000-128394000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:128385000-128394000	Weak transcription	Spleen	Spleen
10	chr7:128385000-128415600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:128385200-128394400	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr7:128385400-128395800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:128387200-128402800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr7:128387200-128413600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:128387200-128414200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:128387200-128415000	Strong transcription	Dnd41	blood
17	chr7:128387400-128393600	Strong transcription	NHLF	lung
18	chr7:128387400-128397000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:128387400-128405800	Strong transcription	HUVEC	blood vessel
20	chr7:128387400-128406200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr7:128387400-128412800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:128387400-128413800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:128387400-128414000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:128387400-128415000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:128387400-128415600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:128387600-128402200	Strong transcription	Primary T cells from cord blood	blood
27	chr7:128387600-128404400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:128387600-128414000	Strong transcription	Placenta	Placenta
29	chr7:128387800-128395600	Strong transcription	Adipose Nuclei	Adipose
30	chr7:128387800-128396600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr7:128387800-128396800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr7:128387800-128397400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:128387800-128404400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:128387800-128405800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr7:128387800-128407200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:128387800-128412800	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr7:128387800-128413000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:128387800-128413200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:128387800-128413600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:128387800-128415200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:128388000-128394000	Weak transcription	Gastric	stomach
42	chr7:128388000-128394000	Weak transcription	Pancreas	Pancrea
43	chr7:128388000-128395000	Strong transcription	Fetal Lung	lung
44	chr7:128388000-128395200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:128388000-128396600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr7:128388000-128397200	Strong transcription	Liver	Liver
47	chr7:128388000-128398200	Weak transcription	Stomach Mucosa	stomach
48	chr7:128388000-128415200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr7:128388200-128395200	Strong transcription	NH-A	brain
50	chr7:128388200-128396200	Strong transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links