Variant report

Variant	rs2980636
Chromosome Location	chr8:110336672-110336673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:109900403..109904157-chr8:110335873..110340257,3	MCF-7	breast:
2	chr8:110332508..110334177-chr8:110336297..110338070,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10087444	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10108349	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1380096	0.87[JPT][hapmap]
rs1380097	0.87[JPT][hapmap]
rs1458915	0.87[JPT][hapmap]
rs1458916	0.87[JPT][hapmap]
rs1458917	0.87[JPT][hapmap]
rs1458923	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1531298	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1548082	0.86[JPT][hapmap]
rs1548083	0.87[JPT][hapmap]
rs1947629	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1993594	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2054257	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2125511	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2125513	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2168964	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2926195	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926196	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2926197	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926198	0.87[JPT][hapmap]
rs2926208	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926214	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926244	0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2926245	0.87[JPT][hapmap]
rs2926247	0.87[JPT][hapmap]
rs2926259	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2926263	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2926265	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2926269	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926277	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980565	0.87[JPT][hapmap]
rs2980589	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980591	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980602	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2980603	0.87[JPT][hapmap]
rs2980606	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2980611	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980618	0.82[JPT][hapmap]
rs2980619	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980620	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980621	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980623	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2980624	0.87[JPT][hapmap]
rs2980627	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2980628	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2980630	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2980632	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2980634	0.80[ASN][1000 genomes]
rs2980637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2980639	0.83[CEU][hapmap];0.81[JPT][hapmap]
rs3116095	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4734206	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4734208	0.81[EUR][1000 genomes]
rs4735117	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735119	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56247307	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6469248	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6469249	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7003376	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7003806	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7009169	0.84[ASN][1000 genomes]
rs7012304	0.84[ASN][1000 genomes]
rs720574	0.83[JPT][hapmap]
rs7819201	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7839867	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2980636	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110236600-110344200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:110284400-110344400	Weak transcription	Fetal Lung	lung
3	chr8:110288600-110344200	Weak transcription	Ovary	ovary
4	chr8:110293000-110343600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:110312000-110344000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:110312200-110342800	Weak transcription	Left Ventricle	heart
7	chr8:110312400-110344200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:110318400-110344000	Weak transcription	NHLF	lung
9	chr8:110318600-110342800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:110319400-110344200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:110322000-110344200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:110323200-110340000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:110324000-110345400	Weak transcription	Aorta	Aorta
14	chr8:110324200-110340400	Weak transcription	K562	blood
15	chr8:110324800-110344000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:110325200-110341400	Weak transcription	HSMM	muscle
17	chr8:110325200-110342000	Weak transcription	A549	lung
18	chr8:110325200-110344400	Weak transcription	Pancreas	Pancrea
19	chr8:110325200-110344400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:110325200-110344400	Weak transcription	Small Intestine	intestine
21	chr8:110325200-110344800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:110325400-110337400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:110325400-110344200	Weak transcription	Fetal Heart	heart
24	chr8:110325800-110337000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:110326600-110344000	Weak transcription	Osteobl	bone
26	chr8:110327800-110338600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:110328000-110344400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:110328200-110337800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:110328200-110339600	Weak transcription	HUVEC	blood vessel
30	chr8:110328200-110344200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:110328200-110345000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr8:110328800-110344200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:110329000-110343600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:110329400-110344200	Weak transcription	NHEK	skin
35	chr8:110330200-110342800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:110330600-110344400	Weak transcription	NH-A	brain
37	chr8:110330800-110344200	Weak transcription	NHDF-Ad	bronchial
38	chr8:110331400-110343800	Weak transcription	Fetal Stomach	stomach
39	chr8:110332000-110337800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr8:110332000-110344200	Weak transcription	Hela-S3	cervix
41	chr8:110332000-110344400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:110332000-110344400	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:110332000-110344600	Weak transcription	Primary B cells from cord blood	blood
44	chr8:110332200-110338000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:110332200-110344000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr8:110332200-110344400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr8:110332200-110344400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:110332600-110345400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr8:110332800-110344200	Weak transcription	Fetal Kidney	kidney
50	chr8:110333400-110344000	Weak transcription	Primary T cells from cord blood	blood

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