Variant report

Variant	rs7935308
Chromosome Location	chr11:46024355-46024356
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46021583..46025208-chr11:46025456..46028440,3	K562	blood:
2	chr11:46022169..46024500-chr11:46257893..46260465,2	K562	blood:

Variant related genes	Relation type
ENSG00000254639	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10769179	0.96[ASN][1000 genomes]
rs10838533	0.89[AMR][1000 genomes]
rs10838535	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11038720	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11038723	0.83[ASN][1000 genomes]
rs11038745	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1125290	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1125291	0.94[ASN][1000 genomes]
rs12277800	0.91[ASN][1000 genomes]
rs2945997	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2945999	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2946001	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2946003	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2946004	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2959087	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2959090	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2959091	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2959098	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2959099	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2959102	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4144718	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4237659	0.99[ASN][1000 genomes]
rs4237660	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6485654	0.96[ASN][1000 genomes]
rs7108028	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7108186	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7128184	0.88[ASN][1000 genomes]
rs7130281	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7350495	0.83[EUR][1000 genomes]
rs7926314	0.96[ASN][1000 genomes]
rs7948502	0.96[ASN][1000 genomes]
rs7950336	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7950391	0.96[ASN][1000 genomes]
rs939107	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	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
2	nsv522527	chr11:46024183-46033104	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7935308	PHF21A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46001400-46070400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:46002000-46025000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:46002000-46042400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:46002000-46056200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr11:46002200-46024800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:46002200-46025000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:46006200-46025200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:46012800-46031000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:46012800-46062800	Weak transcription	GM12878-XiMat	blood
10	chr11:46015600-46026400	Weak transcription	Stomach Mucosa	stomach
11	chr11:46016200-46048200	Weak transcription	Esophagus	oesophagus
12	chr11:46016400-46025200	Weak transcription	Right Atrium	heart
13	chr11:46016800-46025200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:46016800-46044000	Weak transcription	Primary T cells from cord blood	blood
15	chr11:46017000-46032000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:46017400-46024800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:46019800-46025000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:46019800-46025200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:46020600-46024800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:46020600-46026800	Enhancers	Fetal Brain Male	brain
21	chr11:46021600-46025600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:46022000-46026200	Weak transcription	K562	blood
23	chr11:46022000-46033600	Weak transcription	Primary B cells from cord blood	blood
24	chr11:46022000-46074600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:46022400-46025400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:46022600-46024400	Enhancers	Fetal Stomach	stomach
27	chr11:46022600-46024600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr11:46022600-46025400	Enhancers	NHDF-Ad	bronchial
29	chr11:46022600-46025400	Enhancers	NHLF	lung
30	chr11:46022600-46026000	Enhancers	Osteobl	bone
31	chr11:46022600-46026400	Enhancers	HSMM	muscle
32	chr11:46022600-46028200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:46022800-46026400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr11:46022800-46026600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:46023000-46026000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:46023000-46028000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr11:46023000-46029000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:46023200-46025200	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:46023200-46025600	Enhancers	HSMMtube	muscle
40	chr11:46023200-46026400	Enhancers	Fetal Brain Female	brain
41	chr11:46023400-46024400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:46023400-46024400	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:46023400-46024600	Weak transcription	Brain Germinal Matrix	brain
44	chr11:46023400-46024800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:46023400-46025000	Weak transcription	Fetal Lung	lung
46	chr11:46023400-46025200	Weak transcription	Brain Substantia Nigra	brain
47	chr11:46023400-46025200	Weak transcription	Fetal Heart	heart
48	chr11:46023400-46026400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr11:46023400-46027600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:46023400-46038200	Weak transcription	A549	lung

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