Variant report

Variant	rs7526283
Chromosome Location	chr1:227446928-227446929
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227446907..227449535-chr1:227450206..227452004,2	K562	blood:
2	chr1:227442920..227447581-chr1:227503938..227508329,6	K562	blood:
3	chr1:227446023..227447555-chr1:227505720..227507442,2	K562	blood:
4	chr1:227445055..227447131-chr1:227475888..227477429,2	K562	blood:

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1015815	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1015816	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10495263	1.00[CEU][hapmap]
rs10916109	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10916114	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11799413	1.00[CEU][hapmap]
rs11801994	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11803590	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11803761	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11805298	0.91[EUR][1000 genomes]
rs11806511	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11806937	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11808928	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11810328	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11811358	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12402456	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12403650	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12403833	0.90[CEU][hapmap]
rs12403986	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12405363	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12405878	1.00[CEU][hapmap]
rs12408913	0.95[EUR][1000 genomes]
rs12410327	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12410337	1.00[CEU][hapmap]
rs12410460	1.00[CEU][hapmap]
rs12741049	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1464076	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1464077	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1513602	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1513603	0.91[EUR][1000 genomes]
rs1546557	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1606549	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16846972	1.00[CEU][hapmap]
rs16846985	1.00[CEU][hapmap]
rs16847014	1.00[CEU][hapmap]
rs16847035	1.00[CEU][hapmap]
rs16847098	1.00[CEU][hapmap]
rs16847107	1.00[CEU][hapmap]
rs16847492	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16847634	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17613166	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1877622	1.00[CEU][hapmap]
rs1888831	1.00[CEU][hapmap]
rs34263105	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34400564	0.91[EUR][1000 genomes]
rs41270149	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4255349	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4282782	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4300186	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4354510	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4434814	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4437846	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4518864	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4543764	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55805110	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55882852	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55946024	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57276421	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57758974	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58489467	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59116340	0.91[EUR][1000 genomes]
rs59121440	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59859849	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60068245	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60235610	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60742095	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60958272	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61081394	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61522132	0.91[EUR][1000 genomes]
rs6659506	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6668367	0.96[EUR][1000 genomes]
rs73088658	0.91[EUR][1000 genomes]
rs73090612	0.91[EUR][1000 genomes]
rs73094351	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73094393	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73094400	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73096317	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73096350	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73096353	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73096358	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73096374	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098390	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73098398	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102307	0.94[EUR][1000 genomes]
rs74140153	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7515739	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7519099	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7534286	0.91[EUR][1000 genomes]
rs7535010	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7539037	0.91[EUR][1000 genomes]
rs7539750	0.91[EUR][1000 genomes]
rs7542505	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544923	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7545775	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7551556	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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	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
4	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
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3489592	chr1:227443729-227450377	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3452712	chr1:227443929-227450027	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3489589	chr1:227444279-227450327	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3452714	chr1:227444845-227449424	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3452715	chr1:227444845-227449424	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3452713	chr1:227444880-227449414	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3489588	chr1:227444891-227449425	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3489590	chr1:227444908-227449372	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3489593	chr1:227444909-227449395	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3489591	chr1:227444941-227449364	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3489594	chr1:227444941-227449372	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv1804194	chr1:227445002-227448484	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv1809608	chr1:227445002-227448484	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv1809956	chr1:227445002-227448484	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv1812335	chr1:227445002-227448484	Flanking Active TSS Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv1814324	chr1:227445002-227448484	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv10821	chr1:227445029-227449266	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv522490	chr1:227446008-227450144	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227414000-227459200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:227414200-227453800	Weak transcription	HSMM	muscle
3	chr1:227415800-227456800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:227431600-227486200	Weak transcription	NHDF-Ad	bronchial
5	chr1:227432000-227459200	Weak transcription	Fetal Lung	lung
6	chr1:227432200-227455400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:227432600-227448000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:227432800-227455600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:227433000-227469000	Weak transcription	Aorta	Aorta
10	chr1:227433200-227452800	Weak transcription	Ovary	ovary
11	chr1:227434000-227447000	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:227434000-227453400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:227434200-227455400	Weak transcription	Left Ventricle	heart
14	chr1:227434200-227455400	Weak transcription	Right Ventricle	heart
15	chr1:227434200-227455800	Weak transcription	Adipose Nuclei	Adipose
16	chr1:227434600-227468800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:227434800-227458400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:227435000-227457000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:227435600-227453600	Weak transcription	Fetal Intestine Small	intestine
20	chr1:227438800-227448000	Weak transcription	Psoas Muscle	Psoas
21	chr1:227438800-227449400	Weak transcription	Right Atrium	heart
22	chr1:227440000-227456600	Weak transcription	HepG2	liver
23	chr1:227440200-227456800	Weak transcription	HUVEC	blood vessel
24	chr1:227441200-227450000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:227441800-227449600	Weak transcription	A549	lung
26	chr1:227441800-227452000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:227442400-227449600	Weak transcription	Brain Angular Gyrus	brain
28	chr1:227443400-227474000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:227445800-227448000	Weak transcription	Pancreas	Pancrea
30	chr1:227445800-227458400	Weak transcription	NHEK	skin
31	chr1:227446000-227447400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:227446000-227448600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:227446200-227448000	Enhancers	K562	blood
34	chr1:227446600-227447000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:227446600-227447200	Enhancers	Brain Substantia Nigra	brain
36	chr1:227446600-227448200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr1:227446600-227448600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:227446800-227447400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr1:227446800-227447400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:227446800-227447400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:227446800-227447400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr1:227446800-227447400	Enhancers	Brain Inferior Temporal Lobe	brain

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