Variant report

Variant	rs67573812
Chromosome Location	chr8:86131463-86131464
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:86131441-86131465	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:86131349-86131566	MCF-7	breast:	n/a	n/a
3	POLR2A	chr8:86130381-86131603	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr8:86129819-86133333	SK-N-MC	brain:	n/a	n/a
5	WRNIP1	chr8:86131303-86131546	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:86131048-86133285	SK-N-MC	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:86129179..86130942-chr8:86131106..86134281,3	MCF-7	breast:
2	chr8:86087523..86090287-chr8:86131220..86133061,4	K562	blood:
3	chr8:86130748..86132685-chr8:87519056..87520763,2	K562	blood:
4	chr8:86088150..86092119-chr8:86130217..86134794,5	K562	blood:
5	chr8:86130126..86132730-chr8:86156867..86158422,2	K562	blood:
6	chr8:86088315..86091850-chr8:86128947..86134706,9	MCF-7	breast:
7	chr8:86088356..86092364-chr8:86131123..86134666,8	MCF-7	breast:

No data

Variant related genes	Relation type
C8orf59	TF binding region
CA13	TF binding region
ENSG00000176731	Chromatin interaction
ENSG00000258256	Chromatin interaction
ENSG00000185015	Chromatin interaction
ENSG00000176623	Chromatin interaction
ENSG00000260493	Chromatin interaction
ENSG00000254208	Chromatin interaction
ENSG00000133740	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10090196	0.99[ASN][1000 genomes]
rs10106970	0.82[ASN][1000 genomes]
rs1014303	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1021583	0.81[ASN][1000 genomes]
rs11261472	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11989660	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12114575	0.81[ASN][1000 genomes]
rs12550160	0.82[ASN][1000 genomes]
rs1303806	0.81[EUR][1000 genomes]
rs1303807	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13259399	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1390711	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1553015	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16913681	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16913721	0.91[ASN][1000 genomes]
rs1995056	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2132589	0.82[ASN][1000 genomes]
rs2278459	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2291786	0.82[ASN][1000 genomes]
rs2403082	0.85[AMR][1000 genomes]
rs2403083	0.86[EUR][1000 genomes]
rs2403089	0.86[AMR][1000 genomes]
rs2403104	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28564613	0.80[ASN][1000 genomes]
rs28677919	0.94[ASN][1000 genomes]
rs2896452	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2896453	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35285802	0.82[ASN][1000 genomes]
rs3779901	0.80[ASN][1000 genomes]
rs3808538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4150942	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4150962	0.80[ASN][1000 genomes]
rs4150964	0.80[ASN][1000 genomes]
rs4150974	0.82[ASN][1000 genomes]
rs4150977	0.82[ASN][1000 genomes]
rs4739700	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4739702	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4740044	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4740045	0.80[ASN][1000 genomes]
rs4740048	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4740049	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62527225	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6605624	0.81[AMR][1000 genomes]
rs6605625	0.85[AMR][1000 genomes]
rs6987641	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6990449	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990452	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993387	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6994113	0.80[ASN][1000 genomes]
rs7004871	0.86[ASN][1000 genomes]
rs7007304	0.83[AMR][1000 genomes]
rs7011001	0.80[ASN][1000 genomes]
rs7011926	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7818163	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7821629	0.81[ASN][1000 genomes]
rs7827175	0.80[ASN][1000 genomes]
rs7829240	0.82[ASN][1000 genomes]
rs7833737	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7835303	0.81[ASN][1000 genomes]
rs7835882	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7837275	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7838900	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs903896	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs903897	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67573812	LRRCC1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86091000-86132000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:86113400-86132000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:86121600-86132200	Weak transcription	Gastric	stomach
4	chr8:86122000-86131800	Weak transcription	Right Atrium	heart
5	chr8:86126800-86131600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:86126800-86131600	Weak transcription	NHLF	lung
7	chr8:86127200-86132000	Weak transcription	Stomach Mucosa	stomach
8	chr8:86127400-86132000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:86128000-86131800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:86128600-86131600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:86128600-86131800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:86128600-86131800	Weak transcription	Lung	lung
13	chr8:86128600-86131800	Weak transcription	Ovary	ovary
14	chr8:86128600-86131800	Weak transcription	Psoas Muscle	Psoas
15	chr8:86128600-86132000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:86128600-86132000	Weak transcription	HSMMtube	muscle
17	chr8:86128600-86132200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:86128600-86132200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:86128800-86131600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:86128800-86131600	Weak transcription	Brain Germinal Matrix	brain
21	chr8:86128800-86131600	Weak transcription	Left Ventricle	heart
22	chr8:86128800-86131600	Weak transcription	Spleen	Spleen
23	chr8:86128800-86131800	Weak transcription	Aorta	Aorta
24	chr8:86128800-86131800	Weak transcription	Colonic Mucosa	Colon
25	chr8:86128800-86131800	Weak transcription	Right Ventricle	heart
26	chr8:86128800-86131800	Weak transcription	Thymus	Thymus
27	chr8:86128800-86132000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:86128800-86132000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:86128800-86132200	Weak transcription	Esophagus	oesophagus
30	chr8:86128800-86132200	Weak transcription	Small Intestine	intestine
31	chr8:86129000-86131600	Weak transcription	Brain Anterior Caudate	brain
32	chr8:86129000-86131600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:86129000-86131800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:86129000-86132000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:86129000-86132000	Weak transcription	Fetal Kidney	kidney
36	chr8:86129000-86132200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:86129200-86131800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:86129400-86131600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:86129400-86132000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr8:86129800-86131600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr8:86129800-86132000	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:86130000-86131600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr8:86130000-86132000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:86130200-86131600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr8:86130200-86132000	Weak transcription	NHDF-Ad	bronchial
46	chr8:86130800-86131600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:86130800-86131600	Enhancers	Fetal Intestine Large	intestine
48	chr8:86130800-86131600	Weak transcription	Placenta	Placenta
49	chr8:86130800-86131600	Enhancers	Pancreas	Pancrea
50	chr8:86130800-86131800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links