Variant report

Variant	rs11723651
Chromosome Location	chr4:6941745-6941746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6908111..6910785-chr4:6941101..6945265,3	MCF-7	breast:
2	chr4:6926884..6928623-chr4:6939746..6942582,2	MCF-7	breast:
3	chr4:6935997..6938458-chr4:6940561..6943507,2	K562	blood:
4	chr4:6940421..6944056-chr4:6949146..6952385,3	K562	blood:
5	chr4:6927079..6929497-chr4:6940863..6942665,2	K562	blood:
6	chr4:6927079..6929042-chr4:6940771..6942363,2	K562	blood:
7	chr4:6678052..6680236-chr4:6940954..6942752,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10009332	0.86[ASN][1000 genomes]
rs10013211	1.00[JPT][hapmap]
rs10015163	1.00[JPT][hapmap]
rs10019900	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10804990	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs10937762	0.95[JPT][hapmap]
rs10937763	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs10937768	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10937769	0.89[ASN][1000 genomes]
rs10937770	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10937771	0.86[ASN][1000 genomes]
rs11723686	0.87[ASN][1000 genomes]
rs11723719	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731681	0.85[ASN][1000 genomes]
rs11732389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11732887	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11733522	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11736355	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11930747	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11942739	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12499678	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13114976	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13149280	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13435015	0.86[JPT][hapmap]
rs17742611	0.86[JPT][hapmap]
rs2301820	0.86[JPT][hapmap]
rs28392702	0.88[ASN][1000 genomes]
rs28425595	0.97[ASN][1000 genomes]
rs35490604	0.83[ASN][1000 genomes]
rs3857170	0.82[JPT][hapmap]
rs3892976	0.80[ASN][1000 genomes]
rs41516949	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4234790	0.87[ASN][1000 genomes]
rs4261987	0.85[ASN][1000 genomes]
rs4315786	1.00[JPT][hapmap]
rs4346651	0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4432749	0.86[JPT][hapmap]
rs4484301	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4513567	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4608812	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4689055	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4689057	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4689558	0.95[JPT][hapmap]
rs4689562	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs58935653	0.85[ASN][1000 genomes]
rs61488923	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62291136	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62292202	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446550	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6446551	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6446552	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6446553	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6831368	0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6831590	0.98[ASN][1000 genomes]
rs6834007	0.82[ASN][1000 genomes]
rs6848114	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7664348	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7668186	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7668673	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs7689337	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9291121	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs9291123	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9291124	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9790586	0.83[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9999025	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9999127	0.86[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	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:110 , 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	chr4:6926200-6942000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr4:6926200-6942600	Weak transcription	NHEK	skin
4	chr4:6926200-6943200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:6928000-6942000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:6928000-6969600	Weak transcription	Aorta	Aorta
7	chr4:6929000-6942000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:6929000-6942200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:6929200-6942000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:6929400-6942400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:6929600-6942400	Weak transcription	Small Intestine	intestine
12	chr4:6929800-6943200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:6931400-6943200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:6931600-6942000	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:6932000-6942000	Weak transcription	Stomach Mucosa	stomach
16	chr4:6932000-6943400	Weak transcription	Fetal Brain Female	brain
17	chr4:6932000-6943400	Weak transcription	Fetal Kidney	kidney
18	chr4:6932200-6943200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:6933400-6942200	Weak transcription	Psoas Muscle	Psoas
20	chr4:6934400-6946400	Enhancers	Placenta	Placenta
21	chr4:6935400-6943200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:6936000-6943200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:6937400-6941800	Weak transcription	A549	lung
24	chr4:6937400-6942400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:6939000-6945600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:6939000-6946800	Enhancers	Adipose Nuclei	Adipose
27	chr4:6939200-6942000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr4:6939200-6942400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:6939200-6942400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:6939200-6942400	Enhancers	Right Ventricle	heart
31	chr4:6939200-6942600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:6939200-6943200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr4:6939200-6943200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:6939200-6943400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:6939200-6943400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr4:6939200-6943800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:6939200-6946200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:6939200-6947000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:6939200-6947200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr4:6939200-6948000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr4:6939400-6941800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:6939400-6941800	Enhancers	Pancreas	Pancrea
43	chr4:6939400-6943400	Enhancers	Primary B cells from cord blood	blood
44	chr4:6939400-6943600	Enhancers	Primary hematopoietic stem cells	blood
45	chr4:6939400-6943800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr4:6939400-6944200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr4:6939400-6945600	Enhancers	Primary B cells from peripheral blood	blood
48	chr4:6939600-6947000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:6939800-6945000	Enhancers	Brain Cingulate Gyrus	brain
50	chr4:6940000-6941800	Genic enhancers	Thymus	Thymus

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