Variant report

Variant	rs4714757
Chromosome Location	chr6:44113080-44113081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44112467..44115418-chr6:44279171..44281157,2	K562	blood:
2	chr6:44109910..44113195-chr6:44121591..44124104,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124608	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1041523	0.96[ASN][1000 genomes]
rs3734694	0.97[ASN][1000 genomes]
rs4714758	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6458370	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6911630	0.97[ASN][1000 genomes]
rs6934989	0.97[ASN][1000 genomes]
rs9296427	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9394987	0.87[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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44096600-44119400	Weak transcription	Right Atrium	heart
2	chr6:44096800-44119400	Weak transcription	HUVEC	blood vessel
3	chr6:44098000-44114800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr6:44098000-44119400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:44098000-44119400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr6:44100400-44119000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:44101200-44119400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:44101400-44119400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:44101600-44113600	Weak transcription	Hela-S3	cervix
10	chr6:44101600-44118400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:44101800-44119200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:44101800-44124000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:44102000-44113400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:44102000-44115200	Weak transcription	Small Intestine	intestine
15	chr6:44102000-44117600	Weak transcription	Fetal Heart	heart
16	chr6:44102000-44118600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:44102000-44119400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:44102200-44117800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:44102200-44118000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:44102200-44118400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:44102200-44119800	Strong transcription	Fetal Intestine Small	intestine
22	chr6:44102400-44113400	Weak transcription	Fetal Brain Male	brain
23	chr6:44102400-44118000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:44102400-44118000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr6:44102400-44118200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr6:44102400-44118200	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr6:44102400-44119400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:44102600-44119000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:44103000-44118600	Strong transcription	Fetal Intestine Large	intestine
30	chr6:44103600-44119200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:44103600-44119400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr6:44103600-44119400	Strong transcription	Fetal Muscle Leg	muscle
33	chr6:44103800-44124600	Strong transcription	Fetal Stomach	stomach
34	chr6:44104800-44118800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:44105400-44116400	Weak transcription	Fetal Kidney	kidney
36	chr6:44106400-44118600	Strong transcription	Stomach Smooth Muscle	stomach
37	chr6:44106800-44119400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:44107200-44117800	Strong transcription	Osteobl	bone
39	chr6:44107200-44119000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr6:44107400-44118200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:44108200-44113400	Weak transcription	GM12878-XiMat	blood
42	chr6:44108200-44114400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:44108600-44122600	Weak transcription	A549	lung
44	chr6:44109000-44113400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr6:44109000-44113400	Weak transcription	NHLF	lung
46	chr6:44109000-44113600	Weak transcription	Dnd41	blood
47	chr6:44109000-44114600	Weak transcription	Aorta	Aorta
48	chr6:44109000-44115200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr6:44109200-44113400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:44109200-44113600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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