Variant report

Variant	rs8077338
Chromosome Location	chr17:17860546-17860547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17850477..17852579-chr17:17859985..17861970,2	MCF-7	breast:
2	chr17:17855039..17859683-chr17:17860221..17864104,5	MCF-7	breast:
3	chr17:17856070..17857670-chr17:17859137..17860816,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10048206	0.83[EUR][1000 genomes]
rs11078404	0.81[EUR][1000 genomes]
rs11078405	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078406	0.81[EUR][1000 genomes]
rs11078407	0.81[EUR][1000 genomes]
rs11650649	0.91[ASN][1000 genomes]
rs11650890	0.91[ASN][1000 genomes]
rs11656840	0.81[EUR][1000 genomes]
rs11657074	0.91[ASN][1000 genomes]
rs11869536	0.81[EUR][1000 genomes]
rs11871899	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452219	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452254	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12600546	0.81[EUR][1000 genomes]
rs12603148	0.83[EUR][1000 genomes]
rs12936037	0.91[ASN][1000 genomes]
rs12941039	0.91[ASN][1000 genomes]
rs12943500	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1889014	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28428991	0.81[EUR][1000 genomes]
rs2955382	0.81[EUR][1000 genomes]
rs4077198	0.81[EUR][1000 genomes]
rs4077828	0.81[EUR][1000 genomes]
rs4244602	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4257260	0.83[EUR][1000 genomes]
rs4321247	0.84[AMR][1000 genomes]
rs4341796	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4343339	0.82[EUR][1000 genomes]
rs4413022	0.83[EUR][1000 genomes]
rs4414547	0.83[EUR][1000 genomes]
rs4470201	0.81[EUR][1000 genomes]
rs4534911	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4553680	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616340	0.83[EUR][1000 genomes]
rs4925123	0.91[ASN][1000 genomes]
rs4925129	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925130	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5002487	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62064156	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62064158	0.81[EUR][1000 genomes]
rs6502619	0.91[ASN][1000 genomes]
rs6502622	0.81[EUR][1000 genomes]
rs6502624	0.81[EUR][1000 genomes]
rs6502625	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502626	0.82[EUR][1000 genomes]
rs6502627	0.82[EUR][1000 genomes]
rs6502629	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66531105	0.81[EUR][1000 genomes]
rs67253360	0.81[EUR][1000 genomes]
rs7207395	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7213225	0.83[EUR][1000 genomes]
rs7214002	0.82[EUR][1000 genomes]
rs7214536	0.82[EUR][1000 genomes]
rs7222480	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224815	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7503334	0.91[ASN][1000 genomes]
rs8065416	0.81[EUR][1000 genomes]
rs8065497	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8065563	0.91[ASN][1000 genomes]
rs8065970	0.83[EUR][1000 genomes]
rs8066982	0.82[EUR][1000 genomes]
rs8068820	0.81[EUR][1000 genomes]
rs8070128	0.91[ASN][1000 genomes]
rs8070624	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8070722	0.81[EUR][1000 genomes]
rs8070748	0.83[EUR][1000 genomes]
rs8073001	0.81[EUR][1000 genomes]
rs8078138	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078583	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8079418	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8080823	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs950966	0.91[ASN][1000 genomes]
rs9635697	0.83[EUR][1000 genomes]
rs9635698	0.82[EUR][1000 genomes]
rs9890341	0.81[EUR][1000 genomes]
rs9895750	0.91[ASN][1000 genomes]
rs9904163	0.81[EUR][1000 genomes]
rs9905284	0.83[EUR][1000 genomes]
rs9907246	0.83[ASN][1000 genomes]
rs9908299	0.91[ASN][1000 genomes]
rs9908832	0.82[EUR][1000 genomes]
rs9912895	0.81[EUR][1000 genomes]
rs9913724	0.81[EUR][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	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription 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 miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv510701	chr17:17850474-17955485	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8077338	SREBF1	cis	Whole Blood	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17828200-17861000	Weak transcription	Primary B cells from cord blood	blood
2	chr17:17844800-17861400	Weak transcription	Liver	Liver
3	chr17:17847200-17861400	Weak transcription	Fetal Kidney	kidney
4	chr17:17847400-17860600	Weak transcription	K562	blood
5	chr17:17847400-17861600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr17:17847400-17864000	Weak transcription	Aorta	Aorta
7	chr17:17848400-17861200	Weak transcription	Fetal Muscle Leg	muscle
8	chr17:17848400-17862200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr17:17848600-17860600	Weak transcription	Colon Smooth Muscle	Colon
10	chr17:17848600-17861400	Weak transcription	Brain Substantia Nigra	brain
11	chr17:17848600-17861600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr17:17848800-17863000	Weak transcription	Fetal Brain Female	brain
13	chr17:17849000-17861600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:17851800-17860600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:17851800-17860600	Weak transcription	NH-A	brain
16	chr17:17852400-17860600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:17852800-17862000	Weak transcription	Pancreas	Pancrea
18	chr17:17853000-17861600	Weak transcription	Brain Angular Gyrus	brain
19	chr17:17855200-17862000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:17855400-17860600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr17:17855400-17861400	Weak transcription	Brain Anterior Caudate	brain
22	chr17:17855600-17861200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr17:17855600-17861400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr17:17855600-17861400	Weak transcription	Fetal Lung	lung
25	chr17:17855800-17860600	Weak transcription	Osteobl	bone
26	chr17:17856200-17862400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr17:17856400-17861400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr17:17857000-17861800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr17:17857000-17861800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr17:17857200-17862000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr17:17857400-17862000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr17:17857600-17863000	Weak transcription	Ovary	ovary
33	chr17:17858000-17860600	Strong transcription	Fetal Intestine Small	intestine
34	chr17:17858200-17861600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr17:17858400-17860600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:17858400-17862800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr17:17858600-17860600	Weak transcription	Adipose Nuclei	Adipose
38	chr17:17858600-17860600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr17:17858600-17860600	Weak transcription	NHLF	lung
40	chr17:17858800-17860600	Weak transcription	HSMM	muscle
41	chr17:17859000-17860600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr17:17859000-17863000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr17:17859200-17860600	Weak transcription	HSMMtube	muscle
44	chr17:17859200-17861000	Weak transcription	Brain Hippocampus Middle	brain
45	chr17:17859200-17861400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr17:17859200-17861600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr17:17859400-17861200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:17859400-17862800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr17:17859600-17860600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr17:17859600-17861400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links