Variant report

Variant	rs7230346
Chromosome Location	chr18:11989373-11989374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11987852..11990240-chr18:11991809..11994085,2	K562	blood:
2	chr18:11978630..11983643-chr18:11987662..11991726,6	MCF-7	breast:
3	chr18:11949879..11951567-chr18:11988401..11991255,2	K562	blood:
4	chr18:11980570..11987752-chr18:11988318..11993643,9	K562	blood:

Variant related genes	Relation type
ENSG00000141401	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11545506	0.82[JPT][hapmap]
rs11660567	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs16976887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28475846	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28499558	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28509217	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28548932	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4239304	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56364728	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57967783	0.98[ASN][1000 genomes]
rs58556096	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59796048	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59889312	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604420	0.94[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs61383190	0.90[ASN][1000 genomes]
rs6505700	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505701	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs653073	0.85[ASN][1000 genomes]
rs653074	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs663591	0.94[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs67450563	0.85[ASN][1000 genomes]
rs67932171	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7244678	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs72871698	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72871700	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72871702	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72873509	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72873510	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72873549	0.88[ASN][1000 genomes]
rs7407928	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7407929	0.86[EUR][1000 genomes]
rs7506045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8095694	0.94[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs873085	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs9973177	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv909388	chr18:11987988-12141372	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv909389	chr18:11987988-12141625	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv909390	chr18:11987988-12155371	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11982400-12005000	Weak transcription	Aorta	Aorta
2	chr18:11982600-11995600	Weak transcription	Primary T cells from cord blood	blood
3	chr18:11982600-11995800	Weak transcription	Thymus	Thymus
4	chr18:11982600-12028600	Weak transcription	Small Intestine	intestine
5	chr18:11983400-11989600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:11983400-11994000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:11983600-11989400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:11984200-11989800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr18:11984200-11993600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:11984200-11994600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:11984400-11989400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr18:11984400-11989600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr18:11984400-11990000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:11984400-11990400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr18:11984400-11993400	Weak transcription	Lung	lung
16	chr18:11984400-11994200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:11984400-11994200	Weak transcription	NHEK	skin
18	chr18:11984400-11995000	Weak transcription	GM12878-XiMat	blood
19	chr18:11984600-11989800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr18:11985200-11991200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr18:11986000-11990400	Weak transcription	Fetal Kidney	kidney
22	chr18:11986000-11995600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr18:11986400-11990000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr18:11986400-11994600	Weak transcription	Liver	Liver
25	chr18:11986600-11989400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr18:11986600-11990800	Weak transcription	Ovary	ovary
27	chr18:11986800-11990200	Enhancers	A549	lung
28	chr18:11986800-11992800	Enhancers	Fetal Muscle Trunk	muscle
29	chr18:11987200-11989600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr18:11987200-11990400	Genic enhancers	Hela-S3	cervix
31	chr18:11987200-11994800	Weak transcription	Right Atrium	heart
32	chr18:11987400-11991200	Enhancers	Fetal Lung	lung
33	chr18:11987600-11989400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr18:11987600-11992400	Enhancers	Fetal Muscle Leg	muscle
35	chr18:11987800-11991400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr18:11988000-11991800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr18:11988000-11995600	Weak transcription	K562	blood
38	chr18:11988200-11989400	Genic enhancers	HepG2	liver
39	chr18:11988200-11990200	Enhancers	Duodenum Mucosa	Duodenum
40	chr18:11988200-11991600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr18:11988400-11989400	Enhancers	Pancreas	Pancrea
42	chr18:11988400-11989600	Enhancers	HSMMtube	muscle
43	chr18:11988400-11989800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr18:11988400-11990600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr18:11988400-11990800	Enhancers	Stomach Mucosa	stomach
46	chr18:11988400-11991600	Enhancers	Esophagus	oesophagus
47	chr18:11988400-11991600	Enhancers	Psoas Muscle	Psoas
48	chr18:11988600-11989800	Enhancers	Left Ventricle	heart
49	chr18:11988600-11990600	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr18:11988600-11991800	Enhancers	HUES6 Cell Line	embryonic stem cell

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