Variant report

Variant	rs4877796
Chromosome Location	chr9:86304008-86304009
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:86303158..86305549-chr9:86307402..86310035,3	K562	blood:
2	chr9:86300623..86303382-chr9:86303567..86306899,3	K562	blood:

Variant related genes	Relation type
ENSG00000135018	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10115799	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10119344	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs10125432	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs1035274	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs1044175	0.85[CHB][hapmap]
rs10512136	0.95[CEU][hapmap];0.86[CHB][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes]
rs10512137	0.95[CEU][hapmap];0.86[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1056073	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10746717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10746718	0.85[CHB][hapmap]
rs10746719	0.84[CHB][hapmap];0.82[ASN][1000 genomes]
rs10746720	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs10746721	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs10780616	0.87[AMR][1000 genomes]
rs10780617	0.88[AMR][1000 genomes]
rs10780618	0.95[CEU][hapmap];0.86[AMR][1000 genomes]
rs10780619	0.95[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs10780620	0.87[AMR][1000 genomes]
rs10780621	0.85[CHB][hapmap]
rs10780622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10780623	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10780624	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10780625	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10868035	0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10868036	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10868037	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10868038	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10868040	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs10868042	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10868043	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10868044	0.84[CHB][hapmap];0.82[ASN][1000 genomes]
rs10868045	0.85[CHB][hapmap]
rs11140198	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11140202	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11140209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140212	0.95[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11140221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11140223	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11791175	0.85[CHB][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12235741	0.83[AMR][1000 genomes]
rs1333861	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1333862	1.00[ASW][hapmap];0.95[CEU][hapmap];0.94[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1333863	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs1333865	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs1413293	0.85[CHB][hapmap]
rs1537502	0.95[CEU][hapmap];0.86[CHB][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes]
rs1537503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1572135	0.85[CHB][hapmap]
rs17080575	0.87[MEX][hapmap];0.83[AMR][1000 genomes]
rs1889260	0.85[CHB][hapmap]
rs1961941	0.95[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1968216	0.82[ASN][1000 genomes]
rs2042042	0.82[ASN][1000 genomes]
rs2058912	0.85[CHB][hapmap]
rs2282220	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes]
rs2542776	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs2542803	0.82[ASN][1000 genomes]
rs2780969	0.85[CHB][hapmap]
rs2780972	0.85[CHB][hapmap]
rs2780995	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs2781003	0.85[CHB][hapmap]
rs2811909	0.85[CHB][hapmap]
rs2811912	0.85[CHB][hapmap]
rs2811917	0.81[LWK][hapmap]
rs2811921	0.82[YRI][hapmap]
rs2811923	0.85[CHB][hapmap]
rs2811926	0.85[CHB][hapmap]
rs2811927	0.91[CHB][hapmap]
rs2811928	0.85[CHB][hapmap]
rs2811929	0.85[CHB][hapmap]
rs2811930	0.85[CHB][hapmap]
rs2811931	0.83[CHB][hapmap]
rs3750409	0.94[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs3750410	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3814505	1.00[ASW][hapmap];0.95[CEU][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3814507	0.88[MEX][hapmap];0.83[AMR][1000 genomes]
rs4146741	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs4242623	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs4454364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4877790	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4877791	0.95[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4877793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4877794	0.94[CEU][hapmap];0.86[CHB][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4877797	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4877798	0.82[ASN][1000 genomes]
rs4877799	1.00[ASW][hapmap];0.94[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4877800	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs6559737	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs6559739	0.80[ASN][1000 genomes]
rs7023082	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs7039019	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs7046388	0.87[AMR][1000 genomes]
rs72618136	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7850944	0.82[ASN][1000 genomes]
rs7860614	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7863266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7865296	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs7866234	1.00[ASW][hapmap];0.95[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7871055	0.95[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];0.92[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7874980	0.85[CHB][hapmap]
rs868917	0.95[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs944946	0.82[ASN][1000 genomes]
rs961807	0.85[CHB][hapmap];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	nsv893512	chr9:86022215-86323309	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1044639	chr9:86252505-86412041	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv893513	chr9:86298632-86433459	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4877796	UBQLN1	cis	lymphoblastoid	seeQTL
rs4877796	RP11-522I20.3	cis	Whole Blood	GTEx
rs4877796	RP11-522I20.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86280400-86307400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:86289000-86304200	Weak transcription	Ovary	ovary
3	chr9:86289000-86308200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr9:86289000-86321800	Weak transcription	Esophagus	oesophagus
5	chr9:86291400-86314400	Weak transcription	Fetal Heart	heart
6	chr9:86292800-86308600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr9:86293600-86304200	Weak transcription	Brain Hippocampus Middle	brain
8	chr9:86293600-86317000	Weak transcription	NHLF	lung
9	chr9:86294000-86321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:86294200-86305800	Weak transcription	Spleen	Spleen
11	chr9:86294200-86314200	Weak transcription	Gastric	stomach
12	chr9:86294200-86315600	Weak transcription	Right Ventricle	heart
13	chr9:86294200-86320000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:86295000-86308800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:86295000-86313600	Weak transcription	Lung	lung
16	chr9:86296000-86320800	Weak transcription	Fetal Brain Female	brain
17	chr9:86296200-86316800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr9:86296400-86304200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr9:86296800-86306400	Weak transcription	Colon Smooth Muscle	Colon
20	chr9:86296800-86314200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr9:86297000-86315600	Weak transcription	HMEC	breast
22	chr9:86297000-86315600	Weak transcription	HSMM	muscle
23	chr9:86297000-86320000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr9:86297200-86305400	Weak transcription	Psoas Muscle	Psoas
25	chr9:86297600-86305400	Weak transcription	Left Ventricle	heart
26	chr9:86297600-86305400	Weak transcription	Small Intestine	intestine
27	chr9:86297600-86310800	Weak transcription	Fetal Lung	lung
28	chr9:86297600-86314400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr9:86297600-86319800	Weak transcription	Fetal Muscle Leg	muscle
30	chr9:86297600-86321200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:86297800-86305000	Weak transcription	Osteobl	bone
32	chr9:86297800-86311600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:86297800-86314800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr9:86297800-86315800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:86298000-86305400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr9:86298000-86307800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr9:86298000-86308000	Weak transcription	Primary B cells from cord blood	blood
38	chr9:86298000-86308200	Weak transcription	K562	blood
39	chr9:86298000-86313600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:86298000-86314200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr9:86298000-86315400	Weak transcription	HepG2	liver
42	chr9:86298000-86315600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr9:86298000-86316600	Weak transcription	Thymus	Thymus
44	chr9:86298000-86316800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr9:86298000-86320400	Weak transcription	Fetal Intestine Large	intestine
46	chr9:86298200-86304600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:86298200-86311200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr9:86298200-86317000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr9:86298200-86317600	Weak transcription	Dnd41	blood
50	chr9:86298600-86320400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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