Variant report

Variant	rs10269574
Chromosome Location	chr7:99846833-99846834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10246243	0.85[AFR][1000 genomes]
rs10269641	0.84[AFR][1000 genomes]
rs11771660	0.81[AFR][1000 genomes]
rs59248100	0.88[AFR][1000 genomes]
rs73399514	0.84[AFR][1000 genomes]
rs7801070	0.90[AFR][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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10269574	PILRB	cis	lung	GTEx
rs10269574	PILRB	cis	cerebellar cortex	BrainEAC
rs10269574	PILRA,PILRB	cis	brain	BrainEAC
rs10269574	PILRA,PILRB	cis	cerebellar cortex	BrainEAC
rs10269574	PILRB	cis	brain	BrainEAC
rs10269574	PILRA,PILRB	cis	occipital cortex	BrainEAC

Chromatin state (count:48 , 50 per page) page: 1

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	chr7:99821600-99867800	Weak transcription	Gastric	stomach
4	chr7:99823200-99862600	Weak transcription	Spleen	Spleen
5	chr7:99823800-99864200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:99829200-99860600	Weak transcription	Dnd41	blood
7	chr7:99831400-99864200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:99831800-99853000	Weak transcription	Fetal Brain Female	brain
9	chr7:99833000-99868600	Weak transcription	Primary T cells from cord blood	blood
10	chr7:99833200-99868600	Weak transcription	Thymus	Thymus
11	chr7:99840200-99863600	Weak transcription	Brain Anterior Caudate	brain
12	chr7:99841400-99847000	Enhancers	Fetal Muscle Leg	muscle
13	chr7:99841400-99864000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:99842000-99868400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:99842800-99858200	Weak transcription	Brain Substantia Nigra	brain
16	chr7:99844000-99847200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:99845200-99868200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:99845400-99853800	Weak transcription	Fetal Stomach	stomach
19	chr7:99845400-99858200	Weak transcription	Fetal Intestine Small	intestine
20	chr7:99845400-99860400	Weak transcription	Fetal Intestine Large	intestine
21	chr7:99845400-99863800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:99845400-99868200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:99845600-99847400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr7:99845800-99847000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:99846000-99847000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:99846000-99847200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:99846000-99847200	Enhancers	Psoas Muscle	Psoas
28	chr7:99846200-99847200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr7:99846200-99860400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:99846200-99867200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:99846200-99867400	Weak transcription	Fetal Thymus	thymus
32	chr7:99846400-99847000	Weak transcription	Brain Angular Gyrus	brain
33	chr7:99846400-99847000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr7:99846400-99847200	Enhancers	A549	lung
35	chr7:99846400-99847200	Enhancers	Hela-S3	cervix
36	chr7:99846400-99848000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:99846400-99850200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:99846400-99852400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:99846400-99861200	Weak transcription	Brain Germinal Matrix	brain
40	chr7:99846400-99861600	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:99846400-99863400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:99846400-99866800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr7:99846400-99867000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:99846400-99868800	Weak transcription	Right Ventricle	heart
45	chr7:99846600-99866800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:99846800-99847000	Enhancers	Ovary	ovary
47	chr7:99846800-99847200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:99846800-99847200	Enhancers	Stomach Mucosa	stomach

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