Variant report

Variant	rs614065
Chromosome Location	chr6:76315633-76315634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:75973426..75975778-chr6:76313491..76316125,2	K562	blood:
2	chr6:76314474..76317070-chr6:76320904..76323712,3	MCF-7	breast:
3	chr6:76313605..76316318-chr6:76324603..76327531,2	MCF-7	breast:
4	chr6:76314618..76316766-chr6:76326972..76330457,3	K562	blood:
5	chr6:76306113..76308673-chr6:76313720..76315996,2	K562	blood:

Variant related genes	Relation type
ENSG00000112701	Chromatin interaction
ENSG00000217488	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs276684	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs276685	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs276686	0.85[EUR][1000 genomes]
rs276687	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs485906	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs494940	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs504446	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs523465	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs529383	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs567903	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs569731	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs602873	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs618239	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6453829	0.82[ASN][1000 genomes]
rs659807	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs661229	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs675681	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs688398	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6903124	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6931578	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72884926	0.80[ASN][1000 genomes]
rs775059	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs775060	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs775072	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs775075	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7755068	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7765254	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7770824	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9341532	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9343316	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9343319	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9352236	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9352239	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9359132	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9360933	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
5	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
6	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1019328	chr6:76154751-76604197	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
8	nsv538314	chr6:76154751-76604197	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv1023331	chr6:76238459-76482117	Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv538315	chr6:76238459-76482117	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1017542	chr6:76238459-76537447	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv1031745	chr6:76257913-76493355	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
13	nsv538316	chr6:76257913-76493355	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
14	nsv533100	chr6:76257914-76493354	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
15	nsv1023749	chr6:76287578-76482117	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv538317	chr6:76287578-76482117	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
17	nsv1021090	chr6:76306100-76759397	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
18	nsv538318	chr6:76306100-76759397	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs614065	SENP6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76310800-76317600	Active TSS	GM12878-XiMat	blood
2	chr6:76313600-76320200	Weak transcription	Stomach Mucosa	stomach
3	chr6:76313800-76316000	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr6:76313800-76316600	Weak transcription	Psoas Muscle	Psoas
5	chr6:76313800-76317200	Enhancers	Small Intestine	intestine
6	chr6:76313800-76317400	Weak transcription	Brain Substantia Nigra	brain
7	chr6:76313800-76318800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr6:76313800-76320200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:76313800-76320200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:76313800-76322200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr6:76313800-76322200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr6:76313800-76325400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:76313800-76331600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:76314000-76315800	Enhancers	Fetal Heart	heart
15	chr6:76314000-76316200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:76314000-76316200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:76314000-76316600	Weak transcription	Brain Angular Gyrus	brain
18	chr6:76314000-76317400	Weak transcription	Brain Anterior Caudate	brain
19	chr6:76314000-76320200	Weak transcription	Aorta	Aorta
20	chr6:76314000-76321800	Weak transcription	Fetal Intestine Large	intestine
21	chr6:76314000-76323400	Enhancers	Primary T cells from cord blood	blood
22	chr6:76314000-76324600	Weak transcription	Fetal Stomach	stomach
23	chr6:76314000-76325600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:76314000-76325800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr6:76314000-76326000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr6:76314000-76343200	Weak transcription	Fetal Kidney	kidney
27	chr6:76314200-76316000	Enhancers	Colon Smooth Muscle	Colon
28	chr6:76314200-76316000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:76314200-76316200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:76314200-76316600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:76314200-76316800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:76314200-76317000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:76314200-76317000	Weak transcription	Fetal Brain Female	brain
34	chr6:76314200-76317800	Weak transcription	HUVEC	blood vessel
35	chr6:76314200-76318000	Weak transcription	NHDF-Ad	bronchial
36	chr6:76314200-76318200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:76314200-76318200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr6:76314200-76318200	Weak transcription	Fetal Lung	lung
39	chr6:76314200-76318600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:76314200-76318600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:76314200-76318800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:76314200-76318800	Weak transcription	Osteobl	bone
43	chr6:76314200-76319000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:76314200-76319000	Weak transcription	NHLF	lung
45	chr6:76314200-76319800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:76314200-76320800	Weak transcription	HSMM	muscle
47	chr6:76314200-76321000	Weak transcription	Thymus	Thymus
48	chr6:76314200-76321800	Weak transcription	Fetal Thymus	thymus
49	chr6:76314200-76322000	Weak transcription	Placenta	Placenta
50	chr6:76314200-76322200	Weak transcription	Fetal Muscle Leg	muscle

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