Variant report

Variant	rs33997653
Chromosome Location	chr6:76332934-76332935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:76327800..76329805-chr6:76331383..76333611,2	K562	blood:
2	chr6:76310252..76312972-chr6:76331195..76334683,3	MCF-7	breast:
3	chr6:76330148..76333811-chr6:76341672..76344273,3	K562	blood:

Variant related genes	Relation type
ENSG00000112701	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10806047	0.88[ASN][1000 genomes]
rs10943277	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943278	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943279	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943287	0.88[ASN][1000 genomes]
rs10943294	0.88[ASN][1000 genomes]
rs10943295	0.88[ASN][1000 genomes]
rs12153964	0.88[ASN][1000 genomes]
rs12192223	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196105	0.88[ASN][1000 genomes]
rs12197993	0.88[ASN][1000 genomes]
rs12199494	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12201305	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12203091	0.88[ASN][1000 genomes]
rs12203148	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203461	0.88[ASN][1000 genomes]
rs12205818	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208368	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12209039	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12210386	0.88[ASN][1000 genomes]
rs12210963	0.88[ASN][1000 genomes]
rs12211167	0.88[ASN][1000 genomes]
rs12211173	0.88[ASN][1000 genomes]
rs12211735	0.88[ASN][1000 genomes]
rs12212123	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12212171	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212604	0.84[ASN][1000 genomes]
rs12213476	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12214738	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215914	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216518	0.88[ASN][1000 genomes]
rs13196164	0.88[ASN][1000 genomes]
rs13205073	0.88[ASN][1000 genomes]
rs17792773	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28480026	0.92[ASN][1000 genomes]
rs34636573	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35973114	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798440	0.88[ASN][1000 genomes]
rs3798441	0.88[ASN][1000 genomes]
rs3798442	0.88[ASN][1000 genomes]
rs3798455	0.88[ASN][1000 genomes]
rs57268793	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58570618	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66632417	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67016585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71561434	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71561437	0.96[ASN][1000 genomes]
rs71561438	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72886845	1.00[ASN][1000 genomes]
rs9341531	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9341534	0.88[ASN][1000 genomes]
rs9341535	0.84[ASN][1000 genomes]
rs9343315	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9343320	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9350596	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9352224	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9352228	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9352229	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9352231	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9352232	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9352241	0.88[ASN][1000 genomes]
rs9359133	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9359135	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9360924	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9360926	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9360930	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9360932	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9360939	0.81[ASN][1000 genomes]
rs9360942	0.88[ASN][1000 genomes]
rs9447540	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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
19	nsv886183	chr6:76320846-76399539	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv886184	chr6:76320846-76462711	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
21	nsv886185	chr6:76320846-76498109	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS 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	21 gene(s)	inside rSNPs	diseases
22	nsv886186	chr6:76328955-76469115	Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76314000-76343200	Weak transcription	Fetal Kidney	kidney
2	chr6:76314400-76334800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:76314400-76336800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:76318200-76334800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:76319800-76333400	Weak transcription	HMEC	breast
6	chr6:76319800-76348400	Weak transcription	NHEK	skin
7	chr6:76320200-76333200	Weak transcription	NH-A	brain
8	chr6:76320200-76351800	Weak transcription	HSMMtube	muscle
9	chr6:76320200-76391600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:76320800-76334400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:76321200-76348400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:76321600-76334000	Weak transcription	HSMM	muscle
13	chr6:76321600-76339400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:76321800-76370400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:76322000-76341600	Weak transcription	NHLF	lung
16	chr6:76322600-76361000	Weak transcription	Thymus	Thymus
17	chr6:76322800-76333800	Weak transcription	Placenta	Placenta
18	chr6:76323800-76334000	Weak transcription	Hela-S3	cervix
19	chr6:76323800-76334200	Weak transcription	HepG2	liver
20	chr6:76325000-76334800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:76327600-76333800	Enhancers	Liver	Liver
22	chr6:76328000-76334200	Weak transcription	A549	lung
23	chr6:76328400-76334600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:76328400-76334800	Weak transcription	Fetal Intestine Small	intestine
25	chr6:76328600-76334800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:76328800-76333200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:76328800-76339400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:76329400-76333200	Weak transcription	Fetal Brain Male	brain
29	chr6:76329400-76343400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr6:76329800-76336800	Weak transcription	Lung	lung
31	chr6:76329800-76341600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:76330200-76333600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:76330200-76334000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr6:76330200-76334800	Weak transcription	Fetal Stomach	stomach
35	chr6:76330400-76333200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:76330400-76333400	Weak transcription	GM12878-XiMat	blood
37	chr6:76330400-76334000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:76330400-76349600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:76330400-76349800	Weak transcription	Colonic Mucosa	Colon
40	chr6:76330400-76361000	Weak transcription	Esophagus	oesophagus
41	chr6:76330600-76333000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:76330600-76333000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr6:76330600-76333000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:76330600-76333400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:76330600-76333400	Weak transcription	Fetal Thymus	thymus
46	chr6:76330600-76333600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr6:76330600-76333800	Weak transcription	NHDF-Ad	bronchial
48	chr6:76330600-76334000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr6:76330600-76334200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr6:76330600-76334600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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