Variant report

Variant	rs12048670
Chromosome Location	chr1:151244986-151244987
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151242645..151245054-chr1:151254249..151256700,2	K562	blood:
2	chr1:151241271..151243134-chr1:151244958..151246812,2	K562	blood:
3	chr1:151243060..151245513-chr1:151253043..151256313,3	MCF-7	breast:
4	chr1:151243975..151245526-chr1:151395493..151398010,2	MCF-7	breast:
5	chr1:151244636..151246334-chr1:151253644..151256632,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143442	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000232671	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10749660	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10788803	0.90[ASN][1000 genomes]
rs10888408	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10888409	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10888410	0.86[ASN][1000 genomes]
rs10888411	0.80[ASN][1000 genomes]
rs11204791	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11204795	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12022732	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12040384	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12062719	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12080778	0.90[EUR][1000 genomes]
rs12407426	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16827941	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16833079	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1892196	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2275900	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41302131	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4246525	0.84[ASN][1000 genomes]
rs4291501	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4520422	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4522000	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4970944	0.81[EUR][1000 genomes]
rs4970948	0.86[ASN][1000 genomes]
rs4971013	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4971015	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4971016	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4971021	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4971023	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4971025	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4971026	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4971027	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4971030	0.86[ASN][1000 genomes]
rs4971032	0.86[ASN][1000 genomes]
rs58323986	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61817972	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6587559	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6587562	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6681071	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6681163	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6683396	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6686402	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6695344	0.88[ASN][1000 genomes]
rs6701325	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7518924	0.86[ASN][1000 genomes]
rs7521064	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7527032	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7532935	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7539584	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7544947	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs943637	0.86[ASN][1000 genomes]

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	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers 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 target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
4	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151228400-151253400	Weak transcription	Fetal Brain Male	brain
2	chr1:151234000-151245000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:151234200-151245000	Strong transcription	Fetal Intestine Small	intestine
4	chr1:151234600-151246800	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:151235000-151253400	Weak transcription	Stomach Mucosa	stomach
6	chr1:151237600-151253200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:151239000-151253200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:151239400-151253400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:151239800-151245000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:151239800-151245400	Strong transcription	Liver	Liver
11	chr1:151240200-151253400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:151240400-151247800	Weak transcription	Primary B cells from cord blood	blood
13	chr1:151240400-151249000	Weak transcription	GM12878-XiMat	blood
14	chr1:151240400-151253200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:151240400-151253200	Weak transcription	Hela-S3	cervix
16	chr1:151240400-151253400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:151240600-151245800	Weak transcription	Gastric	stomach
18	chr1:151240600-151246000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:151240600-151246200	Weak transcription	A549	lung
20	chr1:151240600-151246400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:151240600-151246600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:151240600-151249000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:151240600-151249200	Weak transcription	Spleen	Spleen
24	chr1:151240600-151250200	Weak transcription	HepG2	liver
25	chr1:151240600-151253200	Weak transcription	Primary T cells from cord blood	blood
26	chr1:151240600-151253200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:151240600-151253200	Weak transcription	Right Ventricle	heart
28	chr1:151240600-151253200	Weak transcription	Dnd41	blood
29	chr1:151240600-151253400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:151240600-151253400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:151240600-151253400	Weak transcription	Brain Substantia Nigra	brain
32	chr1:151240600-151253400	Weak transcription	Colonic Mucosa	Colon
33	chr1:151240600-151253400	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:151240600-151253400	Weak transcription	Esophagus	oesophagus
35	chr1:151240600-151253400	Weak transcription	Fetal Kidney	kidney
36	chr1:151240600-151253400	Weak transcription	Fetal Lung	lung
37	chr1:151240600-151253400	Weak transcription	Pancreas	Pancrea
38	chr1:151240600-151253400	Weak transcription	Psoas Muscle	Psoas
39	chr1:151240600-151253400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:151240600-151253400	Weak transcription	HMEC	breast
41	chr1:151240600-151253400	Weak transcription	NHLF	lung
42	chr1:151240600-151254000	Weak transcription	Aorta	Aorta
43	chr1:151240800-151246200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:151240800-151246600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:151240800-151247400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:151240800-151249200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:151240800-151253400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:151240800-151253400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:151240800-151253400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:151240800-151253400	Weak transcription	Fetal Intestine Large	intestine

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