Variant report

Variant	rs8030074
Chromosome Location	chr15:77654232-77654233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10152181	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1022172	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11072653	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11632966	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633054	0.95[ASN][1000 genomes]
rs11636554	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11852471	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11857294	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11857450	0.87[ASN][1000 genomes]
rs11858641	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1191196	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324627	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12904938	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12905951	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12906708	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12909924	0.82[ASN][1000 genomes]
rs12910361	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12910480	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12911371	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12912050	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12913233	0.81[ASN][1000 genomes]
rs12914345	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1389436	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473922	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493700	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565756	0.94[ASN][1000 genomes]
rs1565757	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1602925	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2055901	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2175941	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28584877	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34591043	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4886515	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4886858	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4886862	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886866	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4886869	0.89[ASN][1000 genomes]
rs59153558	0.84[ASN][1000 genomes]
rs62007299	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62008452	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6495237	0.80[ASN][1000 genomes]
rs6495240	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7166927	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7167794	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7175674	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7176302	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7178572	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8024485	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8034133	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8037426	0.80[ASN][1000 genomes]
rs8037561	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs952471	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs952472	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs965480	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
3	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
4	esv1832234	chr15:77451350-77694607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1051744	chr15:77511489-77679160	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv1830237	chr15:77535785-77694607	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv482689	chr15:77576396-77731559	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1040430	chr15:77584375-77676957	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1836778	chr15:77608747-77694607	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv1795063	chr15:77628696-77697976	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77627400-77657400	Weak transcription	Aorta	Aorta
2	chr15:77628200-77655400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:77628200-77655600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:77632200-77654800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:77635000-77655400	Weak transcription	HSMM	muscle
6	chr15:77635000-77657400	Weak transcription	Fetal Intestine Large	intestine
7	chr15:77635200-77655600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:77636800-77658400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr15:77637200-77666800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:77639200-77659000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr15:77639600-77655600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:77639600-77657800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr15:77639600-77658800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:77639600-77664400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:77639800-77656800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr15:77639800-77657200	Weak transcription	Dnd41	blood
17	chr15:77639800-77657800	Weak transcription	Small Intestine	intestine
18	chr15:77639800-77687000	Weak transcription	Primary B cells from cord blood	blood
19	chr15:77640400-77662200	Weak transcription	HepG2	liver
20	chr15:77642600-77664000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:77642600-77664800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:77642800-77657800	Weak transcription	Lung	lung
23	chr15:77644000-77658000	Weak transcription	Spleen	Spleen
24	chr15:77645600-77656600	Weak transcription	HSMMtube	muscle
25	chr15:77645800-77655400	Weak transcription	Fetal Muscle Leg	muscle
26	chr15:77645800-77655600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:77645800-77655600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:77645800-77655800	Weak transcription	Placenta	Placenta
29	chr15:77645800-77662800	Weak transcription	Brain Angular Gyrus	brain
30	chr15:77645800-77664200	Weak transcription	Brain Anterior Caudate	brain
31	chr15:77645800-77665800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:77645800-77665800	Weak transcription	Pancreas	Pancrea
33	chr15:77645800-77674000	Weak transcription	Ovary	ovary
34	chr15:77645800-77677000	Weak transcription	Right Ventricle	heart
35	chr15:77646000-77655600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr15:77646600-77661000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr15:77646600-77661400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:77646800-77655800	Weak transcription	Adipose Nuclei	Adipose
39	chr15:77646800-77666000	Weak transcription	Stomach Mucosa	stomach
40	chr15:77647000-77655600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:77647000-77655600	Weak transcription	NHDF-Ad	bronchial
42	chr15:77647000-77657600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr15:77647000-77687200	Weak transcription	A549	lung
44	chr15:77648600-77685800	Weak transcription	Gastric	stomach
45	chr15:77649800-77655600	Weak transcription	Fetal Stomach	stomach
46	chr15:77649800-77661200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:77650000-77655800	Weak transcription	Fetal Intestine Small	intestine
48	chr15:77650600-77655600	Weak transcription	Right Atrium	heart
49	chr15:77651600-77657600	Weak transcription	K562	blood
50	chr15:77651600-77660600	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links