Variant report

Variant	rs7525352
Chromosome Location	chr1:227406154-227406155
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227367936..227369654-chr1:227404389..227406175,2	K562	blood:
2	chr1:227405924..227407789-chr1:227409135..227411231,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11799413	0.91[YRI][hapmap]
rs11800447	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11801994	0.81[AFR][1000 genomes]
rs11803590	0.80[AFR][1000 genomes]
rs11807094	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808962	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11811100	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12405878	0.91[YRI][hapmap]
rs12410337	0.92[YRI][hapmap]
rs12410460	0.92[YRI][hapmap]
rs1464077	0.96[YRI][hapmap]
rs16846855	0.91[YRI][hapmap]
rs16846972	0.92[YRI][hapmap]
rs16846985	0.91[YRI][hapmap]
rs16847014	0.92[YRI][hapmap]
rs16847035	0.92[YRI][hapmap]
rs16847098	0.90[YRI][hapmap]
rs16847107	0.91[YRI][hapmap]
rs16847249	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847634	0.95[YRI][hapmap]
rs1888830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1888831	0.91[YRI][hapmap]
rs41270149	0.81[AFR][1000 genomes]
rs4300186	0.95[YRI][hapmap]
rs56352806	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56389454	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57454791	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57752854	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58594824	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58912997	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59136460	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60483746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60958272	0.81[AFR][1000 genomes]
rs73086792	0.83[AFR][1000 genomes]
rs73089746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092520	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092602	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094331	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73096317	0.81[AFR][1000 genomes]
rs73096883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102918	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140155	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7519099	0.81[AFR][1000 genomes]
rs7545775	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs7551556	0.95[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830098	chr1:227295716-227422234	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227346800-227406800	Weak transcription	Fetal Kidney	kidney
2	chr1:227348200-227408400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:227348200-227412200	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:227370000-227413600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:227375600-227410800	Weak transcription	HepG2	liver
6	chr1:227376600-227412600	Weak transcription	Fetal Lung	lung
7	chr1:227380200-227421800	Weak transcription	Ovary	ovary
8	chr1:227380400-227406800	Weak transcription	NHDF-Ad	bronchial
9	chr1:227381600-227406600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:227382000-227414000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:227383600-227421800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:227386200-227433400	Weak transcription	Fetal Stomach	stomach
13	chr1:227386400-227413800	Weak transcription	Brain Anterior Caudate	brain
14	chr1:227386800-227406600	Weak transcription	Fetal Intestine Small	intestine
15	chr1:227387000-227413600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:227387400-227414000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:227390600-227413600	Weak transcription	Small Intestine	intestine
18	chr1:227396800-227413600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:227397000-227406800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:227398200-227413600	Weak transcription	NHLF	lung
21	chr1:227398600-227407000	Weak transcription	Lung	lung
22	chr1:227398800-227407000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:227398800-227411200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:227398800-227413800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:227399000-227406400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:227399000-227406400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:227399000-227408800	Weak transcription	Liver	Liver
28	chr1:227399200-227406800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:227399200-227407000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:227399400-227411200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:227399400-227415400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:227399600-227413200	Weak transcription	HSMM	muscle
33	chr1:227399800-227407000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:227399800-227411000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:227400400-227406600	Weak transcription	Fetal Intestine Large	intestine
36	chr1:227400400-227406600	Weak transcription	Right Ventricle	heart
37	chr1:227400400-227407600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:227400400-227408200	Weak transcription	K562	blood
39	chr1:227400400-227410800	Weak transcription	Brain Angular Gyrus	brain
40	chr1:227400400-227410800	Weak transcription	Brain Substantia Nigra	brain
41	chr1:227400400-227413000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:227400400-227413000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:227400400-227426800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:227400600-227413000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:227400600-227413000	Weak transcription	NHEK	skin
46	chr1:227400800-227412800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:227401400-227407000	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:227401600-227413400	Weak transcription	A549	lung
49	chr1:227401800-227406800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:227402400-227406600	Weak transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links