Variant report

Variant	rs4150944
Chromosome Location	chr8:86115897-86115898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:86114648..86116191-chr8:86127699..86130281,2	K562	blood:
2	chr8:86110776..86112998-chr8:86114103..86116301,2	MCF-7	breast:
3	chr8:86114516..86116575-chr8:86117898..86119407,2	K562	blood:
4	chr8:86115871..86119443-chr8:86120230..86123216,3	K562	blood:
5	chr8:86110821..86112603-chr8:86114542..86116819,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176731	Chromatin interaction
ENSG00000133740	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10088120	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10090196	0.86[JPT][hapmap]
rs10091577	0.80[ASN][1000 genomes]
rs10100442	0.95[JPT][hapmap]
rs10106970	0.87[ASN][1000 genomes]
rs1021583	0.84[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs11261468	0.91[JPT][hapmap]
rs11261469	0.81[ASN][1000 genomes]
rs11261471	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs12541445	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs12543256	0.84[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs12544332	0.86[JPT][hapmap]
rs12546106	0.83[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs12550160	0.83[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1303806	0.82[JPT][hapmap]
rs13259399	0.86[JPT][hapmap]
rs13269739	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs1390711	0.82[JPT][hapmap]
rs1496531	0.86[JPT][hapmap]
rs1496532	0.86[JPT][hapmap]
rs1553015	0.82[JPT][hapmap]
rs16913681	0.84[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs16913721	0.86[JPT][hapmap]
rs17740658	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1845891	0.82[ASN][1000 genomes]
rs1845892	0.85[ASN][1000 genomes]
rs1908762	0.83[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs1995057	0.91[JPT][hapmap]
rs1995058	0.82[JPT][hapmap]
rs2006767	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2132589	0.83[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2132590	0.83[ASN][1000 genomes]
rs2278459	0.91[JPT][hapmap]
rs2279701	0.80[CHB][hapmap];0.91[JPT][hapmap]
rs2291786	0.83[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2291787	0.91[JPT][hapmap]
rs2403083	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2403084	0.95[ASN][1000 genomes]
rs2403085	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2403086	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2403088	0.91[JPT][hapmap]
rs2403104	0.82[JPT][hapmap]
rs28377260	0.84[ASN][1000 genomes]
rs28439950	0.85[ASN][1000 genomes]
rs28564613	0.85[ASN][1000 genomes]
rs2896452	0.91[JPT][hapmap]
rs2896454	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs34103685	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs34527380	0.83[EUR][1000 genomes]
rs3779899	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs3779901	0.84[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs3808538	0.86[JPT][hapmap]
rs3808539	0.82[JPT][hapmap]
rs4150865	0.81[ASN][1000 genomes]
rs4150867	0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4150868	0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4150869	0.82[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4150884	0.83[ASN][1000 genomes]
rs4150893	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4150897	0.94[ASN][1000 genomes]
rs4150909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4150942	0.91[JPT][hapmap]
rs4150962	0.89[ASN][1000 genomes]
rs4150964	0.83[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4150974	0.83[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4150977	0.83[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4609189	0.84[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4617148	0.82[ASN][1000 genomes]
rs4739698	0.85[ASN][1000 genomes]
rs4739700	0.86[JPT][hapmap]
rs4740043	0.86[JPT][hapmap]
rs4740044	0.86[JPT][hapmap]
rs4740045	0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4740047	0.82[ASN][1000 genomes]
rs4740049	0.82[JPT][hapmap]
rs62527173	0.80[ASN][1000 genomes]
rs6605610	0.84[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs6605611	0.83[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs6605624	0.90[JPT][hapmap]
rs6990449	0.87[JPT][hapmap]
rs6993316	0.82[ASN][1000 genomes]
rs6993387	0.86[JPT][hapmap]
rs6994113	0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7001359	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs7008772	0.86[JPT][hapmap]
rs7011001	0.85[ASN][1000 genomes]
rs7011926	0.82[JPT][hapmap]
rs7015758	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7818163	0.86[JPT][hapmap]
rs7821629	0.86[ASN][1000 genomes]
rs7826589	0.86[JPT][hapmap]
rs7827175	0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7829050	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7829144	0.91[JPT][hapmap]
rs7829240	0.87[ASN][1000 genomes]
rs7839129	0.84[ASN][1000 genomes]
rs7841142	0.91[JPT][hapmap]
rs7842013	0.80[ASN][1000 genomes]
rs903895	0.82[JPT][hapmap]
rs903896	0.82[JPT][hapmap]
rs903897	0.82[JPT][hapmap]
rs9329908	0.80[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4150944	C8orf59	Cis_1M	lymphoblastoid	RTeQTL
rs4150944	LRRCC1	cis	Esophagus Mucosa	GTEx
rs4150944	LRRCC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86090800-86127800	Weak transcription	Aorta	Aorta
2	chr8:86091000-86127800	Weak transcription	HSMMtube	muscle
3	chr8:86091000-86132000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:86091200-86125200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:86091600-86124200	Weak transcription	Primary T cells from cord blood	blood
6	chr8:86091600-86126000	Weak transcription	Hela-S3	cervix
7	chr8:86091800-86124200	Weak transcription	HMEC	breast
8	chr8:86096200-86121400	Weak transcription	Fetal Lung	lung
9	chr8:86096400-86121400	Weak transcription	A549	lung
10	chr8:86096600-86120600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:86100400-86121400	Weak transcription	Fetal Intestine Large	intestine
12	chr8:86101000-86122600	Weak transcription	Fetal Intestine Small	intestine
13	chr8:86101000-86124600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:86101000-86127800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:86101200-86127800	Weak transcription	Spleen	Spleen
16	chr8:86101200-86131000	Weak transcription	HepG2	liver
17	chr8:86102600-86121000	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:86102600-86121600	Weak transcription	Dnd41	blood
19	chr8:86102600-86125000	Weak transcription	Fetal Stomach	stomach
20	chr8:86102600-86125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:86102600-86128200	Weak transcription	Fetal Brain Male	brain
22	chr8:86103200-86118400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:86103200-86120800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:86106000-86120800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:86108200-86121400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:86110400-86121000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:86110400-86128200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:86110600-86119200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:86110600-86126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:86111000-86121000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:86111000-86121000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:86111000-86128000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:86113000-86118400	Weak transcription	NH-A	brain
34	chr8:86113000-86127800	Weak transcription	Esophagus	oesophagus
35	chr8:86113200-86123000	Weak transcription	Fetal Brain Female	brain
36	chr8:86113200-86124200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:86113200-86124400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:86113200-86124400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:86113200-86124600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:86113200-86124800	Weak transcription	Brain Anterior Caudate	brain
41	chr8:86113200-86127600	Weak transcription	Right Ventricle	heart
42	chr8:86113200-86131200	Weak transcription	Fetal Heart	heart
43	chr8:86113400-86116000	Weak transcription	NHLF	lung
44	chr8:86113400-86120800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:86113400-86120800	Weak transcription	Fetal Thymus	thymus
46	chr8:86113400-86121600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr8:86113400-86123200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:86113400-86124000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr8:86113400-86124000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr8:86113400-86124000	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links