Variant report

Variant	rs2959098
Chromosome Location	chr11:46010417-46010418
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45967819..45970756-chr11:46009123..46011676,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10769179	0.97[ASN][1000 genomes]
rs10838533	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10838535	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11038720	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11038723	0.88[ASN][1000 genomes]
rs11038745	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1125290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125291	0.99[ASN][1000 genomes]
rs12277800	0.92[ASN][1000 genomes]
rs2945997	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2945999	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2946001	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2946003	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2946004	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2959087	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2959090	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2959091	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2959099	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2959101	0.80[ASN][1000 genomes]
rs2959102	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4144718	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4237659	0.94[ASN][1000 genomes]
rs4237660	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6485654	0.97[ASN][1000 genomes]
rs7108028	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7108186	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7128184	0.93[ASN][1000 genomes]
rs7130281	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7350495	0.85[AMR][1000 genomes]
rs7926314	0.97[ASN][1000 genomes]
rs7935308	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7948502	0.97[ASN][1000 genomes]
rs7950336	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7950391	0.97[ASN][1000 genomes]
rs939107	0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523952	chr11:45983385-46028281	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2959098	PHF21A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45993000-46015000	Weak transcription	Psoas Muscle	Psoas
2	chr11:45993000-46017600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:46000400-46013000	Weak transcription	Fetal Intestine Large	intestine
4	chr11:46000800-46012400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:46001000-46015400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:46001400-46013200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:46001400-46013600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:46001400-46015200	Weak transcription	Pancreas	Pancrea
9	chr11:46001400-46016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:46001400-46070400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:46001600-46015200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:46001600-46015400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:46001600-46016400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:46001600-46021000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:46002000-46015000	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:46002000-46025000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:46002000-46042400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:46002000-46056200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:46002200-46024800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:46002200-46025000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr11:46002600-46012000	Weak transcription	GM12878-XiMat	blood
22	chr11:46002600-46023200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:46004600-46012400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:46004800-46011200	Weak transcription	HUVEC	blood vessel
25	chr11:46004800-46015000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:46005000-46012000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:46005000-46012000	Weak transcription	Ovary	ovary
28	chr11:46005000-46014400	Weak transcription	Fetal Stomach	stomach
29	chr11:46005200-46012000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:46005200-46014800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:46005200-46014800	Weak transcription	NHLF	lung
32	chr11:46005200-46015000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:46005400-46014400	Weak transcription	Aorta	Aorta
34	chr11:46005400-46014400	Weak transcription	Fetal Lung	lung
35	chr11:46005400-46014800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:46005400-46014800	Weak transcription	NH-A	brain
37	chr11:46005400-46015200	Weak transcription	Left Ventricle	heart
38	chr11:46005400-46015200	Weak transcription	Right Ventricle	heart
39	chr11:46005600-46012400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:46005600-46014600	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:46006000-46015200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:46006200-46012000	Weak transcription	Fetal Heart	heart
43	chr11:46006200-46014800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:46006200-46015400	Weak transcription	Primary T cells from cord blood	blood
45	chr11:46006200-46025200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr11:46006400-46010600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:46006800-46014200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:46006800-46014200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:46006800-46014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:46006800-46021400	Weak transcription	Primary B cells from cord blood	blood

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