Variant report

Variant	rs10097300
Chromosome Location	chr8:96173292-96173293
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96161791..96169135-chr8:96169356..96174766,9	MCF-7	breast:
2	chr8:96170992..96173678-chr8:96173856..96175498,2	K562	blood:
3	chr8:96154262..96156511-chr8:96173163..96174743,2	MCF-7	breast:
4	chr8:96171498..96173321-chr8:96177174..96178804,2	K562	blood:
5	chr8:96170558..96173425-chr8:96180616..96182555,2	K562	blood:
6	chr8:96173200..96176100-chr8:96203502..96205695,2	MCF-7	breast:
7	chr8:96163910..96166560-chr8:96171762..96173400,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13263827	0.81[EUR][1000 genomes]
rs13275945	0.81[EUR][1000 genomes]
rs13278942	0.81[EUR][1000 genomes]
rs13280952	0.81[EUR][1000 genomes]
rs62524807	0.81[EUR][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv819397	chr8:96168255-96177678	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10097300	PLEKHF2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96150400-96179200	Weak transcription	Fetal Lung	lung
2	chr8:96162400-96178800	Weak transcription	NH-A	brain
3	chr8:96163200-96175400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:96164600-96174800	Weak transcription	HUVEC	blood vessel
5	chr8:96164800-96175000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:96165000-96174600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:96165200-96174400	Weak transcription	Dnd41	blood
8	chr8:96165600-96174600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:96165800-96175000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:96166000-96175000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr8:96166800-96173800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:96167200-96174800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:96167200-96178600	Weak transcription	Right Ventricle	heart
14	chr8:96167200-96179200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:96167200-96179400	Weak transcription	Brain Angular Gyrus	brain
16	chr8:96167200-96179600	Weak transcription	Brain Anterior Caudate	brain
17	chr8:96167200-96179600	Weak transcription	Left Ventricle	heart
18	chr8:96167200-96181600	Weak transcription	Small Intestine	intestine
19	chr8:96167400-96174800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:96167400-96175000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:96167400-96179600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:96167600-96174400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:96167600-96180600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:96167600-96181400	Weak transcription	Liver	Liver
25	chr8:96169400-96181000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:96169600-96174200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:96169600-96176000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr8:96169800-96175800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr8:96169800-96175800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr8:96170000-96180200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:96170200-96179600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:96170200-96181000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr8:96171000-96175000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:96171800-96179400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:96172200-96173400	Weak transcription	Adipose Nuclei	Adipose
36	chr8:96172200-96174600	Weak transcription	GM12878-XiMat	blood
37	chr8:96172200-96182600	Enhancers	Primary B cells from peripheral blood	blood
38	chr8:96172400-96174200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:96172400-96174600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:96172400-96174600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:96172400-96178200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:96172400-96179200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:96172400-96179200	Weak transcription	Fetal Brain Female	brain
44	chr8:96172400-96180600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:96172400-96181600	Weak transcription	Lung	lung
46	chr8:96172600-96173800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:96172600-96174200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:96172600-96174200	Weak transcription	Fetal Thymus	thymus
49	chr8:96172600-96174400	Weak transcription	Primary T cells from cord blood	blood
50	chr8:96172600-96174400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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