Variant report

Variant	rs1991645
Chromosome Location	chr7:128902983-128902984
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128858187..128860723-chr7:128902918..128905516,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10215998	1.00[EUR][1000 genomes]
rs10235589	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10255583	0.86[AFR][1000 genomes]
rs10264209	0.87[AMR][1000 genomes]
rs10269495	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10281269	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12533108	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13240723	1.00[EUR][1000 genomes]
rs1405475	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1469554	1.00[EUR][1000 genomes]
rs1526898	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1526899	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1549788	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1609043	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2052962	0.87[AMR][1000 genomes]
rs2402946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2402947	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2463096	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2566875	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2566881	1.00[EUR][1000 genomes]
rs2566882	1.00[EUR][1000 genomes]
rs2694570	0.88[AFR][1000 genomes]
rs2694575	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694576	1.00[EUR][1000 genomes]
rs2694577	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694583	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694591	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718085	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718090	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718091	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718092	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718097	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718100	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28399138	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28437865	0.87[AMR][1000 genomes]
rs28475451	0.87[AMR][1000 genomes]
rs28864519	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2896414	0.95[AFR][1000 genomes]
rs4731567	1.00[EUR][1000 genomes]
rs6467234	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467236	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6949882	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6950279	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6950496	0.90[AFR][1000 genomes]
rs6970267	0.97[AFR][1000 genomes]
rs71529418	0.90[AFR][1000 genomes]
rs71577870	0.90[AFR][1000 genomes]
rs7805353	0.87[AMR][1000 genomes]
rs9641847	1.00[EUR][1000 genomes]
rs9641848	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1031284	chr7:128866118-128910506	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3349195	chr7:128887559-128918489	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv516498	chr7:128901429-129072024	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128867200-128909800	Weak transcription	Primary B cells from cord blood	blood
2	chr7:128892600-128914200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:128897400-128914200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:128897400-128919400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:128898800-128905200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:128898800-128919600	Weak transcription	Right Ventricle	heart
7	chr7:128899000-128911600	Weak transcription	Brain Anterior Caudate	brain
8	chr7:128899200-128909800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:128899400-128913600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:128899600-128903000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:128899800-128903800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:128900000-128925000	Weak transcription	Psoas Muscle	Psoas
13	chr7:128901200-128903400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:128901400-128906000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:128901600-128903000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:128901600-128903600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:128901600-128903600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:128901800-128903200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr7:128902000-128903000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr7:128902000-128903200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr7:128902000-128903200	Enhancers	GM12878-XiMat	blood
22	chr7:128902000-128903400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:128902000-128903400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:128902200-128903000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:128902200-128903000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr7:128902200-128903000	Enhancers	Small Intestine	intestine
27	chr7:128902200-128903200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr7:128902200-128903200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:128902200-128903400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr7:128902200-128903400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr7:128902200-128913600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:128902400-128903200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:128902400-128905400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:128902400-128906800	Enhancers	NHEK	skin
35	chr7:128902600-128903000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:128902600-128903000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:128902600-128903000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr7:128902600-128903200	Enhancers	HMEC	breast
39	chr7:128902600-128904200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:128902600-128904400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:128902600-128911800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:128902600-128914200	Weak transcription	Esophagus	oesophagus
43	chr7:128902600-128914200	Weak transcription	Gastric	stomach
44	chr7:128902600-128934000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr7:128902800-128903000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:128902800-128903200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:128902800-128914000	Weak transcription	Primary T cells from cord blood	blood
48	chr7:128902800-128928600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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