Variant report

Variant	rs73399514
Chromosome Location	chr7:99836685-99836686
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10246243	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10269574	0.84[AFR][1000 genomes]
rs10269641	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11531577	0.95[EUR][1000 genomes]
rs11762932	0.94[EUR][1000 genomes]
rs11771660	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12056000	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2056726	0.95[EUR][1000 genomes]
rs2272343	0.95[EUR][1000 genomes]
rs56089143	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59248100	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6943160	0.86[EUR][1000 genomes]
rs6947033	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6953580	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7782305	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7786505	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7789890	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7801070	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs941288	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
2	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
3	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	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
5	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv8182	chr7:99799816-99879781	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv888774	chr7:99807265-99951315	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	esv16057	chr7:99809377-99937347	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv3379367	chr7:99811760-99938687	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3379649	chr7:99812207-99939196	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	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
13	esv3358931	chr7:99816130-99943645	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	esv3405423	chr7:99816156-99943860	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	esv3508070	chr7:99816206-99943813	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	esv3508071	chr7:99816206-99943813	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
17	nsv981558	chr7:99836239-99870051	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs73399514	PILRB	cis	Nerve Tibial	GTEx
rs73399514	PILRB	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99807200-99847000	Weak transcription	Fetal Kidney	kidney
2	chr7:99810600-99864000	Weak transcription	Right Atrium	heart
3	chr7:99812400-99839600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:99813800-99838800	Weak transcription	Fetal Brain Male	brain
5	chr7:99813800-99841200	Weak transcription	Left Ventricle	heart
6	chr7:99813800-99846800	Weak transcription	Ovary	ovary
7	chr7:99815600-99844800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:99815800-99839600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:99821600-99844000	Weak transcription	Esophagus	oesophagus
10	chr7:99821600-99867800	Weak transcription	Gastric	stomach
11	chr7:99821800-99839800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:99822600-99839800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:99822800-99844000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:99823200-99862600	Weak transcription	Spleen	Spleen
15	chr7:99823600-99841400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:99823800-99864200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:99824000-99841200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:99825600-99840200	Weak transcription	K562	blood
19	chr7:99829200-99841000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:99829200-99860600	Weak transcription	Dnd41	blood
21	chr7:99829400-99838800	Weak transcription	Brain Substantia Nigra	brain
22	chr7:99829400-99841000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:99829400-99841000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:99829600-99838000	Weak transcription	HepG2	liver
25	chr7:99829600-99844800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:99829800-99839600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:99831000-99842600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:99831000-99845200	Weak transcription	Right Ventricle	heart
29	chr7:99831200-99837200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:99831200-99842600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:99831400-99841600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:99831400-99864200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:99831600-99841000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:99831600-99846000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:99831800-99853000	Weak transcription	Fetal Brain Female	brain
36	chr7:99832000-99838800	Weak transcription	Pancreas	Pancrea
37	chr7:99832000-99841200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:99832000-99842600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:99832000-99844800	Weak transcription	Fetal Intestine Small	intestine
40	chr7:99832200-99837400	Weak transcription	Fetal Thymus	thymus
41	chr7:99832200-99841200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:99832200-99842000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:99832200-99846000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:99832400-99839200	Weak transcription	Brain Germinal Matrix	brain
45	chr7:99833000-99868600	Weak transcription	Primary T cells from cord blood	blood
46	chr7:99833200-99868600	Weak transcription	Thymus	Thymus
47	chr7:99833800-99839800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:99835000-99837600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:99835200-99838600	Weak transcription	Brain Angular Gyrus	brain
50	chr7:99835400-99839400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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