Variant report

Variant	rs7148572
Chromosome Location	chr14:39829611-39829612
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10083310	0.93[CHB][hapmap];0.94[YRI][hapmap];0.84[AMR][1000 genomes]
rs10136852	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[MEX][hapmap];0.94[YRI][hapmap];0.84[AMR][1000 genomes]
rs10139612	1.00[CHB][hapmap];0.94[YRI][hapmap];0.84[AMR][1000 genomes]
rs10142724	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10145518	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes]
rs10146966	0.81[AMR][1000 genomes]
rs10148141	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10149896	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10483537	0.81[AMR][1000 genomes]
rs10872918	0.86[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap]
rs11157068	0.81[AMR][1000 genomes]
rs11629406	0.81[AMR][1000 genomes]
rs17109068	0.93[CEU][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.83[TSI][hapmap]
rs17109118	0.93[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17693410	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs2274397	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28689476	0.80[AMR][1000 genomes]
rs28718785	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28776502	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28839914	0.84[AMR][1000 genomes]
rs4328353	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4393482	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs4636812	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899200	0.81[JPT][hapmap]
rs4902520	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4902542	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902601	0.93[CHB][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes]
rs4902657	0.84[AMR][1000 genomes]
rs4902668	0.80[AMR][1000 genomes]
rs56126634	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61398943	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62000689	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62000717	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62015709	0.81[AMR][1000 genomes]
rs6571920	0.80[ASW][hapmap];0.93[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.80[MKK][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7141921	0.80[ASW][hapmap];0.93[CEU][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap]
rs7145382	0.84[AMR][1000 genomes]
rs7149197	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7150685	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8016293	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8017650	0.93[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.83[TSI][hapmap]
rs8018486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8019758	0.93[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8022515	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7148572	BRMS1L	cis	parietal	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
3	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
4	chr14:39792800-39841600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:39794400-39843200	Weak transcription	HUVEC	blood vessel
6	chr14:39797000-39837400	Weak transcription	Brain Substantia Nigra	brain
7	chr14:39802000-39835600	Weak transcription	Esophagus	oesophagus
8	chr14:39802000-39841200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:39802600-39835400	Weak transcription	Psoas Muscle	Psoas
10	chr14:39802800-39835400	Weak transcription	Gastric	stomach
11	chr14:39802800-39839400	Weak transcription	Aorta	Aorta
12	chr14:39803000-39835400	Weak transcription	Right Ventricle	heart
13	chr14:39803000-39845800	Weak transcription	NHEK	skin
14	chr14:39803200-39833000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:39803200-39838400	Weak transcription	Thymus	Thymus
16	chr14:39803200-39843400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:39803200-39845800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:39803400-39843800	Weak transcription	HMEC	breast
19	chr14:39807400-39836000	Weak transcription	Brain Anterior Caudate	brain
20	chr14:39808400-39841200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:39809600-39832800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:39810000-39835200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:39812200-39845800	Weak transcription	Stomach Mucosa	stomach
24	chr14:39812400-39832800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:39812400-39833600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr14:39815600-39832800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:39816800-39836600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:39816800-39843200	Weak transcription	Hela-S3	cervix
29	chr14:39816800-39850200	Weak transcription	Fetal Kidney	kidney
30	chr14:39817200-39835400	Weak transcription	Fetal Stomach	stomach
31	chr14:39817400-39835400	Weak transcription	Left Ventricle	heart
32	chr14:39817400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:39817600-39833400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:39818200-39832600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:39818200-39833200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:39818200-39833600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:39818200-39837200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:39818200-39839400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr14:39818800-39831200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr14:39818800-39845200	Weak transcription	Placenta	Placenta
41	chr14:39818800-39867200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr14:39819200-39833600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:39821600-39832800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr14:39822600-39833400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr14:39822800-39831200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:39822800-39832800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:39823000-39832600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr14:39823000-39832800	Weak transcription	Primary B cells from cord blood	blood
49	chr14:39823000-39834400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr14:39823000-39834600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links