Variant report

Variant	rs4715261
Chromosome Location	chr6:13398390-13398391
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13398336..13400389-chr6:13402109..13404070,2	K562	blood:
2	chr6:13396129..13398707-chr6:13570124..13572077,2	MCF-7	breast:
3	chr6:13396704..13399515-chr6:13413657..13416189,2	K562	blood:
4	chr6:13397579..13400126-chr6:13573111..13574727,2	MCF-7	breast:
5	chr6:13354231..13355859-chr6:13396144..13399097,2	K562	blood:
6	chr6:13397740..13400586-chr6:13613823..13615794,2	K562	blood:

Variant related genes	Relation type
ENSG00000225921	Chromatin interaction
ENSG00000261071	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1345031	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1345032	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1550520	0.83[EUR][1000 genomes]
rs1550521	0.83[EUR][1000 genomes]
rs2119481	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2119484	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165419	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4454121	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715251	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs476138	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs478630	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs478804	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs480648	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs485804	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs488885	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs490443	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs494026	0.89[ASN][1000 genomes]
rs500197	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs500293	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503117	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs508153	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs513613	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs519657	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519890	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs520828	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs536916	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs536998	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs544639	0.83[EUR][1000 genomes]
rs546507	0.94[ASN][1000 genomes]
rs550403	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs558126	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs558242	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs559565	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs559612	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs563424	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563662	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs564361	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566320	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386724	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6458814	0.82[EUR][1000 genomes]
rs6458815	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6910652	0.82[EUR][1000 genomes]
rs7742086	0.89[ASN][1000 genomes]
rs821298	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs821299	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821300	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9370104	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9395768	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9474117	0.89[ASN][1000 genomes]

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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13368000-13404600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:13394600-13399000	Enhancers	Primary B cells from peripheral blood	blood
3	chr6:13395000-13399000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr6:13395200-13398600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:13395200-13398800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr6:13395200-13398800	Enhancers	Stomach Mucosa	stomach
7	chr6:13395200-13399000	Enhancers	Primary hematopoietic stem cells	blood
8	chr6:13395200-13399200	Enhancers	Adipose Nuclei	Adipose
9	chr6:13395400-13398400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr6:13395400-13398400	Enhancers	Right Atrium	heart
11	chr6:13395400-13398600	Enhancers	Primary B cells from cord blood	blood
12	chr6:13395400-13398600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr6:13395400-13399000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:13395400-13399000	Enhancers	Spleen	Spleen
15	chr6:13395400-13399200	Enhancers	Psoas Muscle	Psoas
16	chr6:13395400-13399200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr6:13395400-13399200	Enhancers	A549	lung
18	chr6:13395400-13399400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:13395400-13399400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr6:13395400-13399600	Enhancers	Left Ventricle	heart
21	chr6:13395600-13399400	Enhancers	Right Ventricle	heart
22	chr6:13395600-13402800	Enhancers	Fetal Heart	heart
23	chr6:13396000-13398400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:13396000-13404400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:13396200-13398400	Enhancers	HUVEC	blood vessel
26	chr6:13396200-13399400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:13396200-13407000	Weak transcription	Gastric	stomach
28	chr6:13396400-13404400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:13396600-13405800	Weak transcription	HepG2	liver
30	chr6:13396800-13398600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr6:13396800-13404400	Weak transcription	NHLF	lung
32	chr6:13397000-13398800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:13397000-13399000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:13397000-13399000	Enhancers	HMEC	breast
35	chr6:13397000-13399400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:13397000-13404600	Weak transcription	Aorta	Aorta
37	chr6:13397200-13399200	Enhancers	HSMMtube	muscle
38	chr6:13397200-13399800	Enhancers	Brain Cingulate Gyrus	brain
39	chr6:13397200-13400000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:13397400-13398400	Weak transcription	Brain Angular Gyrus	brain
41	chr6:13397400-13398400	Weak transcription	Brain Anterior Caudate	brain
42	chr6:13397400-13398800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr6:13397400-13398800	Weak transcription	Brain Substantia Nigra	brain
44	chr6:13397400-13398800	Enhancers	Fetal Muscle Trunk	muscle
45	chr6:13397600-13398400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:13397600-13398400	Enhancers	HSMM	muscle
47	chr6:13397600-13399000	Enhancers	Colon Smooth Muscle	Colon
48	chr6:13397600-13399400	Enhancers	Brain Hippocampus Middle	brain
49	chr6:13397800-13398400	Enhancers	Placenta	Placenta
50	chr6:13397800-13399000	Enhancers	Fetal Stomach	stomach

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