Variant report

Variant	rs2223428
Chromosome Location	chr6:144668194-144668195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144662894..144665141-chr6:144667747..144670464,2	K562	blood:
2	chr6:144666959..144669568-chr6:144687284..144689539,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11965745	1.00[ASN][1000 genomes]
rs11970041	0.83[YRI][hapmap];0.91[AMR][1000 genomes]
rs12178630	1.00[AMR][1000 genomes]
rs17073670	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2328570	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28737224	0.91[AMR][1000 genomes]
rs4546509	1.00[ASN][1000 genomes]
rs57580585	1.00[ASN][1000 genomes]
rs59893699	1.00[ASN][1000 genomes]
rs6570620	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs6570621	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6570631	1.00[MEX][hapmap]
rs6902637	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6910059	1.00[ASN][1000 genomes]
rs6932679	0.92[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6936691	1.00[ASN][1000 genomes]
rs7748278	1.00[ASN][1000 genomes]
rs7755700	1.00[ASN][1000 genomes]
rs7768531	0.92[ASW][hapmap];0.87[LWK][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs9321971	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9321973	1.00[ASN][1000 genomes]
rs9484865	1.00[MEX][hapmap]
rs9484866	1.00[AMR][1000 genomes]
rs9484868	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9484869	1.00[MEX][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes]
rs9484870	0.91[AMR][1000 genomes]
rs9484871	1.00[ASN][1000 genomes]
rs9484873	1.00[ASN][1000 genomes]
rs9496929	1.00[AMR][1000 genomes]
rs9496933	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496934	0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496939	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496940	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496941	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496942	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496943	0.82[AFR][1000 genomes]
rs9496945	0.86[AFR][1000 genomes]
rs9496946	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496947	0.91[AMR][1000 genomes]
rs9496951	1.00[ASN][1000 genomes]
rs9496952	1.00[ASN][1000 genomes]
rs9496953	1.00[ASN][1000 genomes]
rs9496954	1.00[ASN][1000 genomes]
rs9496961	1.00[ASN][1000 genomes]
rs9496965	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144648800-144672800	Weak transcription	Fetal Stomach	stomach
2	chr6:144652000-144668200	Weak transcription	Aorta	Aorta
3	chr6:144653200-144684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:144656000-144668400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:144656000-144670600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:144657000-144670800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:144658200-144668200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:144658400-144670400	Weak transcription	Fetal Lung	lung
9	chr6:144660400-144668200	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:144660400-144670800	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:144661600-144670400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:144661600-144670800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:144661800-144670800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:144663200-144668200	Weak transcription	Brain Anterior Caudate	brain
15	chr6:144663200-144685800	Weak transcription	Brain Substantia Nigra	brain
16	chr6:144663400-144668200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:144663400-144675200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:144663600-144668400	Weak transcription	Gastric	stomach
19	chr6:144664600-144668200	Weak transcription	Esophagus	oesophagus
20	chr6:144665200-144668200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:144665400-144696400	Weak transcription	Fetal Intestine Small	intestine
22	chr6:144665600-144668200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:144665600-144668200	Weak transcription	HSMM	muscle
24	chr6:144665600-144668400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:144665600-144668400	Weak transcription	Pancreas	Pancrea
26	chr6:144665600-144668400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr6:144665800-144668200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:144665800-144668200	Weak transcription	Psoas Muscle	Psoas
29	chr6:144665800-144668200	Weak transcription	Osteobl	bone
30	chr6:144665800-144668400	Weak transcription	Colonic Mucosa	Colon
31	chr6:144665800-144668400	Weak transcription	Small Intestine	intestine
32	chr6:144665800-144669200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr6:144665800-144670600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:144666000-144668200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:144666000-144668200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:144666000-144668200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:144666000-144668200	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:144666000-144668200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:144666000-144670400	Weak transcription	Liver	Liver
40	chr6:144666000-144670800	Weak transcription	Fetal Kidney	kidney
41	chr6:144666000-144671000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr6:144666200-144668200	Weak transcription	Right Ventricle	heart
43	chr6:144666200-144670600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:144666400-144668600	Enhancers	Duodenum Mucosa	Duodenum
45	chr6:144666400-144670400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr6:144666400-144670800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr6:144666600-144668200	Weak transcription	Stomach Mucosa	stomach
48	chr6:144666600-144668200	Enhancers	HepG2	liver
49	chr6:144666600-144669800	Enhancers	Fetal Thymus	thymus
50	chr6:144666800-144668400	Weak transcription	Rectal Mucosa Donor 29	rectum

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