Variant report

Variant	rs34379427
Chromosome Location	chr4:6931846-6931847
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6928082..6930342-chr4:6930567..6933330,2	MCF-7	breast:
2	chr4:6931441..6933195-chr4:6934119..6937117,3	K562	blood:
3	chr4:6720666..6722228-chr4:6930174..6933123,2	K562	blood:
4	chr4:6924422..6927283-chr4:6930396..6933115,3	K562	blood:
5	chr4:6931441..6933069-chr4:6934898..6937117,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11938701	0.84[AMR][1000 genomes]
rs12503027	0.84[AMR][1000 genomes]
rs12512484	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13108082	0.80[ASN][1000 genomes]
rs13111887	0.80[ASN][1000 genomes]
rs13115245	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13122119	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13141777	0.84[AMR][1000 genomes]
rs13144485	0.82[AMR][1000 genomes]
rs13148395	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13149411	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13149923	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2301818	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2301819	0.86[ASN][1000 genomes]
rs34221933	0.90[EUR][1000 genomes]
rs34335938	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34463709	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34481892	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34860182	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34953654	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34959511	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34990775	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35170004	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35680216	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3894945	0.84[AMR][1000 genomes]
rs4234788	0.80[ASN][1000 genomes]
rs4234791	0.86[ASN][1000 genomes]
rs4544710	0.84[EUR][1000 genomes]
rs4689056	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689560	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689563	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4689564	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4689565	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62289166	0.86[AMR][1000 genomes]
rs6446559	0.80[ASN][1000 genomes]
rs66530709	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66640699	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs66841627	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66931928	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs66992702	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6811496	0.84[AMR][1000 genomes]
rs6816660	0.80[ASN][1000 genomes]
rs6818744	0.84[AMR][1000 genomes]
rs6840780	0.89[EUR][1000 genomes]
rs7655773	0.90[EUR][1000 genomes]
rs7661952	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv980396	chr4:6929613-6942211	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 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	chr4:6919600-6942200	Weak transcription	Hela-S3	cervix
2	chr4:6920200-6939600	Weak transcription	HUVEC	blood vessel
3	chr4:6926200-6942000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:6926200-6942600	Weak transcription	NHEK	skin
5	chr4:6926200-6943200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:6926600-6932200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:6926600-6933400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:6926600-6935000	Enhancers	Liver	Liver
9	chr4:6926600-6939200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:6926800-6932200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr4:6927200-6932200	Enhancers	Adipose Nuclei	Adipose
12	chr4:6927200-6932200	Genic enhancers	Thymus	Thymus
13	chr4:6927600-6932200	Enhancers	Placenta	Placenta
14	chr4:6928000-6932000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr4:6928000-6932200	Enhancers	Brain Anterior Caudate	brain
16	chr4:6928000-6932200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr4:6928000-6932400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:6928000-6932400	Enhancers	Fetal Thymus	thymus
19	chr4:6928000-6933200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:6928000-6934600	Weak transcription	Esophagus	oesophagus
21	chr4:6928000-6937400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:6928000-6939200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:6928000-6942000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:6928000-6969600	Weak transcription	Aorta	Aorta
25	chr4:6928600-6932200	Enhancers	Fetal Muscle Leg	muscle
26	chr4:6928600-6932200	Enhancers	Left Ventricle	heart
27	chr4:6928600-6932400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr4:6928800-6932200	Enhancers	Brain Substantia Nigra	brain
29	chr4:6928800-6933000	Enhancers	Fetal Intestine Large	intestine
30	chr4:6929000-6932200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr4:6929000-6932400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr4:6929000-6934200	Weak transcription	Fetal Stomach	stomach
33	chr4:6929000-6936800	Weak transcription	A549	lung
34	chr4:6929000-6942000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:6929000-6942200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:6929200-6942000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr4:6929400-6932000	Enhancers	Fetal Heart	heart
38	chr4:6929400-6932200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:6929400-6932200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr4:6929400-6942400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:6929600-6932000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr4:6929600-6933400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr4:6929600-6934200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:6929600-6934400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:6929600-6942400	Weak transcription	Small Intestine	intestine
46	chr4:6929800-6932400	Enhancers	Psoas Muscle	Psoas
47	chr4:6929800-6934400	Weak transcription	GM12878-XiMat	blood
48	chr4:6929800-6939200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:6929800-6943200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:6930000-6940400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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