Variant report

Variant	rs2959100
Chromosome Location	chr11:46015138-46015139
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45966883..45969814-chr11:46013235..46015702,2	K562	blood:
2	chr11:45905426..45907240-chr11:46014639..46017352,2	MCF-7	breast:
3	chr11:46013966..46016594-chr11:46138214..46140856,2	K562	blood:
4	chr11:46014298..46016604-chr11:46031314..46033806,2	K562	blood:
5	chr11:45991620..45994024-chr11:46013347..46016192,3	K562	blood:
6	chr11:45926761..45929094-chr11:46013316..46015853,2	MCF-7	breast:
7	chr11:46000949..46006706-chr11:46011674..46018213,17	K562	blood:
8	chr11:45988485..45990717-chr11:46014188..46017080,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255498	Chromatin interaction
ENSG00000234776	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000121653	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10769187	1.00[YRI][hapmap]
rs11600515	1.00[YRI][hapmap]
rs12418498	1.00[YRI][hapmap]
rs2959101	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4505038	1.00[YRI][hapmap]
rs7112677	1.00[YRI][hapmap]

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
rs2959100	PHF21A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45993000-46017600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:46001000-46015400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:46001400-46015200	Weak transcription	Pancreas	Pancrea
4	chr11:46001400-46016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:46001400-46070400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:46001600-46015200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:46001600-46015400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:46001600-46016400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:46001600-46021000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:46002000-46025000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:46002000-46042400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:46002000-46056200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:46002200-46024800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:46002200-46025000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr11:46002600-46023200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:46005400-46015200	Weak transcription	Left Ventricle	heart
17	chr11:46005400-46015200	Weak transcription	Right Ventricle	heart
18	chr11:46006000-46015200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:46006200-46015400	Weak transcription	Primary T cells from cord blood	blood
20	chr11:46006200-46025200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr11:46006800-46021400	Weak transcription	Primary B cells from cord blood	blood
22	chr11:46007600-46015400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:46008000-46016400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:46009600-46016200	Weak transcription	Fetal Kidney	kidney
25	chr11:46010400-46015400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:46012000-46015600	Enhancers	Fetal Heart	heart
27	chr11:46012000-46018400	Enhancers	Fetal Brain Male	brain
28	chr11:46012200-46015200	Enhancers	Fetal Brain Female	brain
29	chr11:46012200-46015200	Weak transcription	Ovary	ovary
30	chr11:46012200-46015600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:46012400-46015400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:46012800-46015200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:46012800-46015200	Weak transcription	Right Atrium	heart
34	chr11:46012800-46031000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:46012800-46062800	Weak transcription	GM12878-XiMat	blood
36	chr11:46013000-46015400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:46013200-46015200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:46013400-46021200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:46013600-46015600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:46014200-46015800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr11:46014200-46017000	Enhancers	Liver	Liver
42	chr11:46014200-46018200	Enhancers	Brain Germinal Matrix	brain
43	chr11:46014400-46015200	Enhancers	Stomach Smooth Muscle	stomach
44	chr11:46014400-46016400	Enhancers	Brain Substantia Nigra	brain
45	chr11:46014400-46016600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:46014400-46016600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:46014400-46016800	Enhancers	Aorta	Aorta
48	chr11:46014400-46017000	Enhancers	Brain Angular Gyrus	brain
49	chr11:46014400-46017000	Enhancers	Rectal Smooth Muscle	rectum
50	chr11:46014400-46017200	Enhancers	Brain Hippocampus Middle	brain

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