Variant report

Variant	rs3824000
Chromosome Location	chr7:127502961-127502962
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127495466..127498009-chr7:127499722..127503312,3	K562	blood:
2	chr7:127501679..127503363-chr7:127520843..127522345,2	MCF-7	breast:
3	chr7:127502110..127504704-chr7:127507082..127510314,3	K562	blood:
4	chr7:127489666..127491385-chr7:127502476..127504208,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10215276	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251423	0.92[ASN][1000 genomes]
rs10255861	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10260037	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1029927	0.92[ASN][1000 genomes]
rs1075206	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10954163	0.89[ASN][1000 genomes]
rs11521053	0.89[ASN][1000 genomes]
rs1193334	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1193337	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11971935	0.89[ASN][1000 genomes]
rs11972774	0.89[ASN][1000 genomes]
rs11976946	1.00[JPT][hapmap]
rs11977012	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11977915	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11980318	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12531440	0.89[ASN][1000 genomes]
rs12533846	0.89[ASN][1000 genomes]
rs12539728	0.89[ASN][1000 genomes]
rs12540865	0.89[ASN][1000 genomes]
rs13236900	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13237048	0.89[ASN][1000 genomes]
rs1362267	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1362268	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1362897	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs141450	0.89[ASN][1000 genomes]
rs1419969	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17151241	0.89[ASN][1000 genomes]
rs17151270	0.89[ASN][1000 genomes]
rs17676908	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17676986	0.93[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs17716738	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17718395	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17733988	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1833147	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1860934	0.92[ASN][1000 genomes]
rs1881084	0.83[ASN][1000 genomes]
rs2014583	0.83[ASN][1000 genomes]
rs325440	0.89[ASN][1000 genomes]
rs325442	0.92[ASN][1000 genomes]
rs325444	0.92[ASN][1000 genomes]
rs325445	0.92[ASN][1000 genomes]
rs325446	0.92[ASN][1000 genomes]
rs325447	0.92[ASN][1000 genomes]
rs325451	0.92[ASN][1000 genomes]
rs35121681	0.85[ASN][1000 genomes]
rs35971861	0.89[ASN][1000 genomes]
rs3757757	0.85[EUR][1000 genomes]
rs3757767	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3779529	0.92[ASN][1000 genomes]
rs3779530	0.92[ASN][1000 genomes]
rs3808057	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs3808058	1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs3808073	0.94[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3808084	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3808087	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808092	0.85[ASN][1000 genomes]
rs3808093	0.89[ASN][1000 genomes]
rs3808095	0.89[ASN][1000 genomes]
rs3808097	0.89[ASN][1000 genomes]
rs3808105	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3808106	1.00[JPT][hapmap]
rs4728077	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55694225	0.83[ASN][1000 genomes]
rs58583807	0.89[ASN][1000 genomes]
rs6948493	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6961381	0.89[ASN][1000 genomes]
rs6963455	0.89[ASN][1000 genomes]
rs6963614	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6968199	0.89[ASN][1000 genomes]
rs712716	0.91[JPT][hapmap]
rs717944	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs720300	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73234861	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73234862	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73234876	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73234880	0.83[ASN][1000 genomes]
rs73234882	0.83[ASN][1000 genomes]
rs73234897	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73238074	0.81[EUR][1000 genomes]
rs741599	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs759056	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs759843	0.83[ASN][1000 genomes]
rs7786041	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797663	0.85[ASN][1000 genomes]
rs887745	0.94[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs917831	0.94[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs917832	0.92[ASN][1000 genomes]
rs918793	0.89[ASN][1000 genomes]
rs972088	1.00[JPT][hapmap]
rs972090	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127482600-127503200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:127485000-127512000	Weak transcription	Aorta	Aorta
3	chr7:127485200-127505000	Weak transcription	HUVEC	blood vessel
4	chr7:127485200-127527800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:127485600-127522000	Weak transcription	Placenta	Placenta
6	chr7:127485800-127515200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:127488200-127516400	Weak transcription	HMEC	breast
8	chr7:127488400-127506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:127488600-127504800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:127488600-127510000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr7:127488600-127515400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:127489600-127508000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:127490200-127512200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:127490400-127506600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:127490600-127505400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:127491200-127504800	Weak transcription	HepG2	liver
17	chr7:127491200-127505000	Weak transcription	Primary B cells from cord blood	blood
18	chr7:127491200-127512200	Weak transcription	A549	lung
19	chr7:127491400-127504400	Weak transcription	NHDF-Ad	bronchial
20	chr7:127491400-127505200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:127491400-127515400	Weak transcription	NH-A	brain
22	chr7:127491400-127527800	Weak transcription	Liver	Liver
23	chr7:127491600-127504800	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:127491600-127504800	Weak transcription	Osteobl	bone
25	chr7:127491600-127505000	Weak transcription	NHLF	lung
26	chr7:127492000-127504800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:127492000-127505200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:127492000-127505200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:127492000-127507400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:127494000-127515400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:127496600-127503200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:127496600-127505000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:127496600-127519400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:127497000-127506000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:127497200-127504600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:127498000-127505000	Weak transcription	Spleen	Spleen
37	chr7:127498400-127509000	Weak transcription	Left Ventricle	heart
38	chr7:127498600-127504200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:127498600-127505600	Weak transcription	Lung	lung
40	chr7:127498600-127525000	Weak transcription	Fetal Intestine Small	intestine
41	chr7:127498800-127504800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:127498800-127504800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:127498800-127505000	Weak transcription	NHEK	skin
44	chr7:127498800-127506000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:127498800-127509200	Weak transcription	Right Ventricle	heart
46	chr7:127498800-127513400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:127498800-127519400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:127498800-127521800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:127498800-127524600	Weak transcription	Gastric	stomach
50	chr7:127498800-127525600	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links