Variant report

Variant	rs2272592
Chromosome Location	chr6:31698352-31698353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:178)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:178 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TRIM28	chr6:31696949-31699148	K562	blood:	n/a	n/a
2	POLR2A	chr6:31697134-31698402	H1-neurons	neurons:	n/a	n/a
3	RAD21	chr6:31696640-31698493	SK-N-SH	brain:	n/a	n/a
4	MAX	chr6:31696965-31698353	MCF-7	breast:	n/a	chr6:31697426-31697436
5	POLR2A	chr6:31697171-31698404	H1-neurons	neurons:	n/a	n/a
6	TEAD4	chr6:31696522-31699163	K562	blood:	n/a	n/a
7	POLR2A	chr6:31695670-31699628	K562	blood:	n/a	n/a
8	POLR2A	chr6:31696967-31698995	PFSK-1	brain:	n/a	n/a
9	NR2F2	chr6:31694887-31699102	K562	blood:	n/a	n/a
10	SP1	chr6:31697874-31698838	H1-hESC	embryonic stem cell:	n/a	chr6:31698041-31698053 chr6:31698043-31698052 chr6:31698043-31698052 chr6:31698061-31698071 chr6:31698061-31698071 chr6:31698041-31698053 chr6:31698042-31698051
11	POLR2A	chr6:31697148-31699058	K562	blood:	n/a	n/a
12	STAT5A	chr6:31696873-31698965	K562	blood:	n/a	chr6:31698284-31698292
13	PML	chr6:31696928-31698517	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:31697110-31698388	HCT-116	colon:	n/a	n/a
15	POLR2A	chr6:31696886-31700880	HepG2	liver:	n/a	n/a
16	BCLAF1	chr6:31696366-31699221	K562	blood:	n/a	chr6:31697428-31697441
17	ZMIZ1	chr6:31696913-31698951	K562	blood:	n/a	n/a
18	RAD21	chr6:31697978-31698368	IMR90	lung:	n/a	n/a
19	POLR2A	chr6:31696544-31699049	GM12892	blood:	n/a	n/a
20	MAX	chr6:31697016-31698369	SK-N-SH	brain:	n/a	chr6:31697426-31697436
21	ZBTB7A	chr6:31696930-31698519	ECC-1	luminal epithelium:	n/a	chr6:31697805-31697813
22	BCL3	chr6:31697013-31698383	A549	lung:	n/a	chr6:31697428-31697441
23	POLR2A	chr6:31696976-31699046	GM12892	blood:	n/a	n/a
24	POLR2A	chr6:31696855-31699061	PANC-1	pancreas:	n/a	n/a
25	PBX3	chr6:31696952-31698474	SK-N-SH	brain:	n/a	chr6:31697534-31697554
26	ELK1	chr6:31697139-31698419	K562	blood:	n/a	n/a
27	POLR2A	chr6:31696328-31698372	K562	blood:	n/a	n/a
28	RAD21	chr6:31696753-31698368	HCT-116	colon:	n/a	n/a
29	EP300	chr6:31697129-31698921	K562	blood:	n/a	chr6:31697306-31697319
30	UBTF	chr6:31697157-31698357	K562	blood:	n/a	n/a
31	HEY1	chr6:31696989-31698986	K562	blood:	n/a	n/a
32	TEAD4	chr6:31697013-31698405	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr6:31696874-31699065	PANC-1	pancreas:	n/a	n/a
34	ARID3A	chr6:31697150-31698470	K562	blood:	n/a	n/a
35	POLR2A	chr6:31696990-31698366	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr6:31696966-31698538	MCF-7	breast:	n/a	n/a
37	JUND	chr6:31697534-31698367	A549	lung:	n/a	n/a
38	PML	chr6:31696520-31699193	K562	blood:	n/a	n/a
39	CEBPB	chr6:31698324-31698369	HepG2	liver:	n/a	n/a
40	CTCF	chr6:31698311-31698866	T-47D	breast:	n/a	n/a
41	POLR2A	chr6:31697054-31698954	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr6:31698063-31698436	GM12878	blood:	n/a	n/a
43	MAX	chr6:31697900-31698398	H1-hESC	embryonic stem cell:	n/a	n/a
44	NFIC	chr6:31697072-31698390	ECC-1	luminal epithelium:	n/a	n/a
45	NFATC1	chr6:31697102-31698446	GM12878	blood:	n/a	n/a
46	POLR2A	chr6:31696944-31699047	GM12878	blood:	n/a	n/a
47	POLR2A	chr6:31696453-31698886	HepG2	liver:	n/a	n/a
48	PBX3	chr6:31697130-31698433	A549	lung:	n/a	chr6:31697534-31697554
49	CBX3	chr6:31696849-31699021	K562	blood:	n/a	n/a
50	SIN3AK20	chr6:31697006-31698400	PANC-1	pancreas:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31694918..31699964-chr6:31826467..31832957,9	K562	blood:
2	chr6:31657436..31659534-chr6:31697774..31699736,2	MCF-7	breast:
3	chr6:31506561..31512642-chr6:31697539..31702106,5	K562	blood:
4	chr6:31632206..31634072-chr6:31697899..31700595,2	MCF-7	breast:
5	chr6:31646338..31652560-chr6:31697885..31704222,10	MCF-7	breast:
6	chr6:31659766..31662541-chr6:31697639..31700232,2	MCF-7	breast:
7	chr6:31697087..31699964-chr6:31831308..31832957,3	K562	blood:
8	chr6:31594249..31597266-chr6:31695833..31699351,4	MCF-7	breast:
9	chr6:31696408..31700150-chr6:31800226..31805691,5	MCF-7	breast:
10	chr6:31697326..31699677-chr6:31802341..31805046,2	MCF-7	breast:
11	chr6:31647431..31650863-chr6:31697294..31699656,3	MCF-7	breast:
12	chr6:31621359..31624108-chr6:31697605..31699324,2	MCF-7	breast:
13	chr6:31696116..31699055-chr6:31743914..31747307,3	MCF-7	breast:
14	chr6:31697592..31699245-chr6:31742808..31745377,2	MCF-7	breast:
15	chr6:31697890..31700450-chr6:31939330..31941948,2	K562	blood:
16	chr6:31668218..31672980-chr6:31695553..31699160,10	MCF-7	breast:

No data

Variant related genes	Relation type
DDAH2	TF binding region
ENSG00000204344	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000204385	Chromatin interaction
ENSG00000204348	Chromatin interaction
ENSG00000263020	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000201754	Chromatin interaction
ENSG00000204438	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000204427	Chromatin interaction
ENSG00000204428	Chromatin interaction
ENSG00000204444	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000204396	Chromatin interaction
ENSG00000204435	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000266776	Chromatin interaction
ENSG00000204394	Chromatin interaction
ENSG00000201555	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs2227956	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2295663	0.84[ASN][1000 genomes]
rs3117572	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3131384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7451017	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9267577	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9267649	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9378164	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
10	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
11	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
12	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
13	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
14	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
15	nsv884425	chr6:31688518-31698544	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2272592	DDAH2	cis	multi-tissue	Pritchard
rs2272592	MICB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31694800-31698800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:31695000-31699000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:31695400-31698400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:31695600-31698400	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr6:31695600-31698400	Active TSS	Fetal Kidney	kidney
6	chr6:31696000-31698400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:31696000-31698400	Active TSS	Aorta	Aorta
8	chr6:31696200-31698400	Active TSS	Colon Smooth Muscle	Colon
9	chr6:31696400-31698400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:31696400-31698400	Flanking Active TSS	Fetal Thymus	thymus
11	chr6:31696400-31698400	Active TSS	HSMMtube	muscle
12	chr6:31696600-31698400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:31696600-31698400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:31696800-31698400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:31696800-31698400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr6:31696800-31698400	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr6:31696800-31698400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr6:31696800-31698400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:31696800-31698400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr6:31696800-31698400	Active TSS	Ovary	ovary
21	chr6:31696800-31698400	Active TSS	Psoas Muscle	Psoas
22	chr6:31696800-31698400	Active TSS	Right Ventricle	heart
23	chr6:31696800-31698400	Flanking Active TSS	HepG2	liver
24	chr6:31696800-31698600	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr6:31696800-31698600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:31696800-31698600	Active TSS	HSMM	muscle
27	chr6:31697000-31698400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:31697000-31698400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:31697000-31698400	Active TSS	Fetal Lung	lung
30	chr6:31697000-31698400	Active TSS	Fetal Stomach	stomach
31	chr6:31697000-31698400	Active TSS	Left Ventricle	heart
32	chr6:31697000-31698600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:31697000-31698600	Active TSS	Fetal Brain Female	brain
34	chr6:31697200-31698400	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr6:31697200-31698400	Active TSS	Brain Cingulate Gyrus	brain
36	chr6:31697200-31698400	Active TSS	Brain Substantia Nigra	brain
37	chr6:31697200-31698400	Active TSS	Fetal Brain Male	brain
38	chr6:31697200-31698400	Active TSS	Hela-S3	cervix
39	chr6:31697400-31698400	Transcr. at gene 5' and 3'	Right Atrium	heart
40	chr6:31697600-31698800	Active TSS	Primary T cells from cord blood	blood
41	chr6:31697800-31698400	Flanking Active TSS	Placenta	Placenta
42	chr6:31698000-31698400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:31698000-31698400	Active TSS	Brain Germinal Matrix	brain
44	chr6:31698000-31698400	Active TSS	Colonic Mucosa	Colon
45	chr6:31698000-31698400	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr6:31698000-31698400	Flanking Active TSS	Gastric	stomach
47	chr6:31698000-31698400	Transcr. at gene 5' and 3'	Sigmoid Colon	Sigmoid Colon
48	chr6:31698000-31698400	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr6:31698000-31698400	Flanking Active TSS	Thymus	Thymus
50	chr6:31698000-31698400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links