Variant report

Variant	rs11942739
Chromosome Location	chr4:6926997-6926998
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6926884..6928623-chr4:6939746..6942582,2	MCF-7	breast:
2	chr4:6924422..6927283-chr4:6930396..6933115,3	K562	blood:
3	chr4:6917201..6921579-chr4:6924492..6930074,6	MCF-7	breast:
4	chr4:6909963..6912664-chr4:6925024..6930247,5	MCF-7	breast:
5	chr4:6926678..6929634-chr4:6988002..6989801,2	K562	blood:
6	chr4:6926678..6930436-chr4:6987384..6989801,3	K562	blood:
7	chr4:6922272..6924651-chr4:6925651..6927891,2	MCF-7	breast:
8	chr4:6863476..6866254-chr4:6925496..6927606,2	K562	blood:
9	chr4:6921707..6924021-chr4:6925903..6927996,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10012305	0.81[ASN][1000 genomes]
rs10019900	0.87[ASN][1000 genomes]
rs10804990	0.89[ASN][1000 genomes]
rs10937763	0.89[ASN][1000 genomes]
rs10937766	0.83[ASN][1000 genomes]
rs10937768	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10937770	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11723651	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11723719	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11728984	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11731639	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11732389	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11732887	0.84[ASN][1000 genomes]
rs11733522	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11736355	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11930747	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12499678	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12646620	0.83[ASN][1000 genomes]
rs12646621	0.83[ASN][1000 genomes]
rs13103361	0.83[ASN][1000 genomes]
rs13114976	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13149280	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28425595	0.83[ASN][1000 genomes]
rs28463777	0.83[ASN][1000 genomes]
rs28523495	0.83[ASN][1000 genomes]
rs28703753	0.85[ASN][1000 genomes]
rs35296019	0.82[ASN][1000 genomes]
rs4234787	0.81[ASN][1000 genomes]
rs4290891	0.82[ASN][1000 genomes]
rs4513567	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4608812	0.86[ASN][1000 genomes]
rs4689055	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4689057	0.80[ASN][1000 genomes]
rs4689562	0.83[ASN][1000 genomes]
rs61488923	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62291136	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62292202	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6446550	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6446551	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6446552	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6446553	0.85[ASN][1000 genomes]
rs6831590	0.85[ASN][1000 genomes]
rs6848114	0.82[EUR][1000 genomes]
rs6852468	0.83[ASN][1000 genomes]
rs7664348	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7668186	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7689337	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9291121	0.86[ASN][1000 genomes]
rs9291122	0.84[ASN][1000 genomes]
rs9291124	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9999025	0.81[EUR][1000 genomes];0.81[ASN][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	esv3400936	chr4:6925101-6927799	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6919000-6928000	Weak transcription	Fetal Kidney	kidney
2	chr4:6919600-6942200	Weak transcription	Hela-S3	cervix
3	chr4:6920200-6927600	Weak transcription	Right Atrium	heart
4	chr4:6920200-6939600	Weak transcription	HUVEC	blood vessel
5	chr4:6920400-6928600	Weak transcription	Psoas Muscle	Psoas
6	chr4:6920400-6931000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:6922400-6927400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:6923200-6930800	Weak transcription	Stomach Mucosa	stomach
9	chr4:6923800-6927000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:6923800-6927200	Strong transcription	Thymus	Thymus
11	chr4:6924200-6927000	Strong transcription	Primary T cells from cord blood	blood
12	chr4:6924200-6927800	Strong transcription	Fetal Intestine Small	intestine
13	chr4:6924400-6927200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:6924400-6930600	Weak transcription	Fetal Brain Male	brain
15	chr4:6924600-6927000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr4:6924600-6928600	Weak transcription	Osteobl	bone
17	chr4:6924600-6929000	Strong transcription	Fetal Stomach	stomach
18	chr4:6924800-6928000	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr4:6924800-6928200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:6924800-6928400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr4:6925000-6927000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:6925000-6927200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:6925000-6927200	Strong transcription	GM12878-XiMat	blood
24	chr4:6925000-6927600	Genic enhancers	Brain Anterior Caudate	brain
25	chr4:6925000-6927600	Strong transcription	Colonic Mucosa	Colon
26	chr4:6925000-6928000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:6925000-6928000	Strong transcription	Dnd41	blood
28	chr4:6925000-6928800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:6925200-6927000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:6925200-6927000	Strong transcription	Ovary	ovary
31	chr4:6925200-6927200	Strong transcription	Fetal Muscle Leg	muscle
32	chr4:6925200-6927400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:6925200-6927400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:6925200-6927400	Strong transcription	Brain Germinal Matrix	brain
35	chr4:6925200-6927400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr4:6925200-6927600	Strong transcription	Colon Smooth Muscle	Colon
37	chr4:6925200-6927600	Genic enhancers	Right Ventricle	heart
38	chr4:6925200-6927800	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr4:6925200-6927800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:6925200-6927800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:6925200-6927800	Strong transcription	Gastric	stomach
42	chr4:6925200-6927800	Strong transcription	Lung	lung
43	chr4:6925200-6928000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:6925200-6928000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:6925200-6928000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:6925200-6928000	Strong transcription	Aorta	Aorta
47	chr4:6925200-6928000	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:6925200-6928000	Strong transcription	Rectal Smooth Muscle	rectum
49	chr4:6925200-6928400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:6925400-6927000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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