Variant report

Variant	rs1660735
Chromosome Location	chr1:9945538-9945539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9944042..9945752-chr1:9947659..9949631,2	K562	blood:
2	chr1:9942393..9946053-chr1:9949993..9953105,3	K562	blood:
3	chr1:9941978..9943694-chr1:9945295..9946902,2	K562	blood:
4	chr1:9944846..9946989-chr1:9947780..9950695,2	MCF-7	breast:
5	chr1:9944553..9946142-chr1:9950207..9953105,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1220381	0.84[EUR][1000 genomes]
rs1220382	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1220383	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1220384	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1220391	0.89[ASN][1000 genomes]
rs1220392	0.86[EUR][1000 genomes]
rs1220393	0.86[EUR][1000 genomes]
rs1220394	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1220395	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1220396	0.86[EUR][1000 genomes]
rs1220404	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1220405	0.88[EUR][1000 genomes]
rs1220406	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1220409	1.00[ASN][1000 genomes]
rs1220411	0.90[EUR][1000 genomes]
rs1220412	0.90[EUR][1000 genomes]
rs1220413	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1220418	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1372106	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470160	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083577	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2379108	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2486084	0.88[EUR][1000 genomes]
rs2582980	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582981	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3120822	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7225	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs935073	0.88[EUR][1000 genomes]
rs935074	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935075	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs946275	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv871146	chr1:9897001-9951288	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv545380	chr1:9918183-9987007	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9904800-9946000	Weak transcription	Fetal Kidney	kidney
2	chr1:9930800-9949600	Weak transcription	Fetal Lung	lung
3	chr1:9932600-9960200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:9933000-9946000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:9935400-9948800	Weak transcription	Primary B cells from cord blood	blood
6	chr1:9935600-9948600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:9935600-9949200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr1:9935600-9949400	Weak transcription	HUVEC	blood vessel
9	chr1:9935600-9950200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:9935600-9960800	Weak transcription	Fetal Intestine Large	intestine
11	chr1:9935800-9946200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:9935800-9946600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:9935800-9950800	Weak transcription	Aorta	Aorta
14	chr1:9936000-9946200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:9936000-9948800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:9936000-9950000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:9936000-9950000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:9936200-9949800	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:9936400-9960200	Weak transcription	Liver	Liver
20	chr1:9937200-9950000	Weak transcription	Fetal Brain Male	brain
21	chr1:9938400-9950000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:9938600-9948800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:9938600-9949000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:9938600-9952800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:9938800-9949600	Weak transcription	Stomach Mucosa	stomach
26	chr1:9940800-9952400	Strong transcription	Fetal Intestine Small	intestine
27	chr1:9942000-9946800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
28	chr1:9942000-9947400	Genic enhancers	Fetal Muscle Leg	muscle
29	chr1:9942000-9947400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:9942000-9948800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:9942200-9945600	Strong transcription	Brain Germinal Matrix	brain
32	chr1:9942400-9945600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:9942400-9945600	Enhancers	Left Ventricle	heart
34	chr1:9942400-9947400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:9942400-9947400	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr1:9942400-9950000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:9942400-9950600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:9942600-9949800	Weak transcription	Osteobl	bone
39	chr1:9942600-9950000	Weak transcription	HepG2	liver
40	chr1:9942800-9947400	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr1:9942800-9949200	Weak transcription	NHLF	lung
42	chr1:9943000-9947600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:9943000-9948200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:9943000-9948800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:9943000-9949800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:9943000-9960200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:9943200-9946200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:9943200-9946400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:9943200-9961600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:9943400-9946600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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