Variant report

Variant	rs1859788
Chromosome Location	chr7:99971834-99971835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2405442	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][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	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1859788	PVRIG2P	cis	Adipose Subcutaneous	GTEx
rs1859788	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs1859788	PILRB	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99934000-99977600	Weak transcription	Fetal Brain Male	brain
2	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
3	chr7:99960200-99975400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:99960400-99984800	Weak transcription	Pancreas	Pancrea
5	chr7:99960600-99975600	Weak transcription	Brain Angular Gyrus	brain
6	chr7:99960600-99977600	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:99960600-99985200	Weak transcription	Aorta	Aorta
8	chr7:99960800-99976600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:99961400-99977400	Weak transcription	Brain Substantia Nigra	brain
10	chr7:99962400-100020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:99962800-99972800	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:99964800-99977600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:99965200-99976800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:99965200-99979200	Weak transcription	Right Ventricle	heart
15	chr7:99966000-99974000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:99966400-99998000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:99966600-99972000	Weak transcription	Liver	Liver
18	chr7:99966600-99972800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:99966600-99973600	Weak transcription	Ovary	ovary
20	chr7:99966800-99972600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr7:99967000-99972200	Weak transcription	Thymus	Thymus
22	chr7:99967400-99974600	Weak transcription	Fetal Brain Female	brain
23	chr7:99969200-99972000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr7:99969200-99973000	Enhancers	Fetal Thymus	thymus
25	chr7:99969400-99982600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:99969600-99972000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:99969800-99977000	Weak transcription	Brain Germinal Matrix	brain
28	chr7:99970000-99972400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:99970000-99972400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr7:99970200-99973000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:99970200-99978600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:99970400-99972000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:99970400-99972400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:99970400-99973600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:99970400-99982400	Weak transcription	Hela-S3	cervix
36	chr7:99970600-99972000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:99970600-99972200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:99970600-99972800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:99970600-99974000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr7:99970600-99978800	Weak transcription	Primary T cells from cord blood	blood
41	chr7:99970800-99981600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:99971000-99975400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:99971000-99975400	Weak transcription	Lung	lung
44	chr7:99971000-99977600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:99971000-99979600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr7:99971200-99972000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:99971200-99972200	Active TSS	Brain Anterior Caudate	brain
48	chr7:99971200-99972400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:99971200-99972600	Active TSS	Brain Hippocampus Middle	brain
50	chr7:99971400-99972000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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