Variant report

Variant	rs73768532
Chromosome Location	chr6:119034352-119034353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr6:119034020-119034524	SK-N-SH	brain:	n/a	n/a
2	FOS	chr6:119034136-119034494	MCF10A-Er-Src	breast:	n/a	n/a
3	TCF12	chr6:119034006-119034643	SK-N-SH	brain:	n/a	n/a
4	FOSL2	chr6:119034057-119034635	SK-N-SH	brain:	n/a	n/a
5	NFIC	chr6:119034078-119034685	SK-N-SH	brain:	n/a	n/a
6	FOS	chr6:119034121-119034482	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr6:119034174-119034470	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr6:119034048-119034514	SK-N-SH_RA	brain:	n/a	n/a
9	JUND	chr6:119034065-119034652	SK-N-SH	brain:	n/a	n/a
10	EP300	chr6:119034062-119034504	SK-N-SH_RA	brain:	n/a	n/a
11	STAT3	chr6:119034151-119034353	MCF10A-Er-Src	breast:	n/a	n/a
12	PBX3	chr6:119034058-119034614	SK-N-SH	brain:	n/a	n/a
13	MYC	chr6:119034214-119034414	MCF10A-Er-Src	breast:	n/a	n/a
14	PBX3	chr6:119033973-119034603	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119033951..119036534-chr6:119040434..119042277,2	K562	blood:
2	chr6:118970545..118972377-chr6:119033430..119035366,2	K562	blood:

Variant related genes	Relation type
CEP85L	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs55761377	1.00[AMR][1000 genomes]
rs55968023	1.00[AMR][1000 genomes]
rs56007878	1.00[AMR][1000 genomes]
rs56057396	1.00[AMR][1000 genomes]
rs56242764	1.00[AMR][1000 genomes]
rs56259947	1.00[AMR][1000 genomes]
rs57161631	1.00[AMR][1000 genomes]
rs57622287	1.00[AMR][1000 genomes]
rs58070035	1.00[AMR][1000 genomes]
rs58510356	1.00[AMR][1000 genomes]
rs59685154	1.00[AMR][1000 genomes]
rs60606021	1.00[AMR][1000 genomes]
rs60630459	1.00[AMR][1000 genomes]
rs73766536	1.00[AMR][1000 genomes]
rs73766541	1.00[AMR][1000 genomes]
rs73766547	1.00[AMR][1000 genomes]
rs73766558	1.00[AMR][1000 genomes]
rs73766561	1.00[AMR][1000 genomes]
rs73766562	1.00[AMR][1000 genomes]
rs73766563	1.00[AMR][1000 genomes]
rs73766564	1.00[AMR][1000 genomes]
rs73766571	1.00[AMR][1000 genomes]
rs73766572	1.00[AMR][1000 genomes]
rs73766575	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766576	1.00[AMR][1000 genomes]
rs73766579	1.00[AMR][1000 genomes]
rs73766582	1.00[AMR][1000 genomes]
rs73766587	1.00[AMR][1000 genomes]
rs73766588	1.00[AMR][1000 genomes]
rs73766589	1.00[AMR][1000 genomes]
rs73766591	1.00[AMR][1000 genomes]
rs73766593	1.00[AMR][1000 genomes]
rs73766602	1.00[AMR][1000 genomes]
rs73768508	1.00[AMR][1000 genomes]
rs73768523	1.00[AMR][1000 genomes]
rs73768526	1.00[AMR][1000 genomes]
rs73768534	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768543	1.00[AMR][1000 genomes]
rs73768544	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768545	1.00[AMR][1000 genomes]
rs73768546	1.00[AMR][1000 genomes]
rs73768547	1.00[AMR][1000 genomes]
rs73768548	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119028400-119040600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:119031400-119035400	Enhancers	Fetal Thymus	thymus
3	chr6:119031600-119034600	Enhancers	Primary T cells fromperipheralblood	blood
4	chr6:119031600-119034600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:119031600-119035000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr6:119031600-119036200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:119031600-119039200	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:119031600-119040200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:119031600-119040400	Weak transcription	Psoas Muscle	Psoas
10	chr6:119031600-119044400	Weak transcription	Fetal Heart	heart
11	chr6:119031600-119045600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:119031800-119034600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:119031800-119036400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr6:119032000-119034800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr6:119032000-119037000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:119032000-119040000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:119032200-119034400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:119032200-119034800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr6:119032200-119035000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:119032200-119035200	Enhancers	Primary T cells from cord blood	blood
21	chr6:119032200-119035600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:119032200-119035800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:119032400-119036400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:119033000-119035400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr6:119033200-119039400	Weak transcription	Dnd41	blood
26	chr6:119033200-119039400	Weak transcription	K562	blood
27	chr6:119033200-119039800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:119033600-119034800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:119033800-119034600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:119033800-119034600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:119033800-119034800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:119033800-119034800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr6:119033800-119034800	Enhancers	NH-A	brain
34	chr6:119033800-119034800	Enhancers	NHEK	skin
35	chr6:119033800-119035000	Enhancers	NHDF-Ad	bronchial
36	chr6:119033800-119035200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:119033800-119035200	Enhancers	HMEC	breast
38	chr6:119033800-119035200	Enhancers	Osteobl	bone
39	chr6:119034000-119034400	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr6:119034000-119034600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:119034000-119034600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:119034000-119034600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:119034000-119034600	Enhancers	Brain Angular Gyrus	brain
44	chr6:119034000-119034800	Enhancers	Brain Cingulate Gyrus	brain
45	chr6:119034000-119035200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:119034000-119035200	Enhancers	HSMMtube	muscle
47	chr6:119034200-119034600	Enhancers	Duodenum Mucosa	Duodenum
48	chr6:119034200-119034600	Enhancers	NHLF	lung
49	chr6:119034200-119034800	Enhancers	Brain Anterior Caudate	brain
50	chr6:119034200-119034800	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links