Variant report

Variant	rs8191663
Chromosome Location	chr8:11643459-11643460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11629021..11631913-chr8:11640649..11643733,4	K562	blood:
2	chr8:11641389..11643325-chr8:11643341..11646162,4	K562	blood:
3	chr8:11640779..11643782-chr8:11659893..11662754,3	MCF-7	breast:
4	chr8:11625283..11628000-chr8:11640532..11643496,2	K562	blood:
5	chr8:11639903..11643106-chr8:11643341..11646162,3	K562	blood:
6	chr8:11628045..11631391-chr8:11641711..11643829,4	K562	blood:
7	chr8:11635191..11637008-chr8:11641548..11643752,2	K562	blood:

Variant related genes	Relation type
ENSG00000154328	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000255046	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10101195	0.91[GIH][hapmap];0.83[TSI][hapmap]
rs1534862	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17754589	0.91[GIH][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap]
rs7000800	0.82[AMR][1000 genomes]
rs7001819	0.82[LWK][hapmap]
rs804267	0.88[GIH][hapmap];0.86[MEX][hapmap]
rs8191604	1.00[GIH][hapmap];0.92[TSI][hapmap]
rs8191614	0.85[CHB][hapmap]
rs8191640	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs8191642	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8191649	0.88[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8191664	0.87[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8191663	PPP1R3B	cis	cerebellum	SCAN
rs8191663	NEIL2	Cis_1M	lymphoblastoid	RTeQTL
rs8191663	NEIL2	cis	lymphoblastoid	seeQTL
rs8191663	MFHAS1	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11628400-11647200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:11628400-11653000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:11628400-11656800	Weak transcription	Small Intestine	intestine
4	chr8:11628600-11647200	Weak transcription	Fetal Heart	heart
5	chr8:11628800-11646800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:11629200-11644200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:11629600-11645800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr8:11629800-11644200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:11634400-11645000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:11634600-11644400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:11634600-11645200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:11635200-11644800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:11635400-11645400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:11636000-11645600	Weak transcription	Hela-S3	cervix
15	chr8:11636400-11645600	Strong transcription	Fetal Stomach	stomach
16	chr8:11636600-11644600	Strong transcription	Stomach Smooth Muscle	stomach
17	chr8:11636600-11645000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:11636600-11645800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr8:11636800-11644200	Strong transcription	Dnd41	blood
20	chr8:11636800-11659400	Weak transcription	Thymus	Thymus
21	chr8:11637600-11645600	Strong transcription	Primary B cells from cord blood	blood
22	chr8:11639000-11645400	Weak transcription	HUVEC	blood vessel
23	chr8:11640000-11645000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:11640200-11643800	Strong transcription	Brain Angular Gyrus	brain
25	chr8:11640200-11643800	Strong transcription	Pancreas	Pancrea
26	chr8:11640200-11644400	Strong transcription	Brain Substantia Nigra	brain
27	chr8:11640200-11645600	Strong transcription	Fetal Muscle Leg	muscle
28	chr8:11640400-11643600	Strong transcription	Primary hematopoietic stem cells	blood
29	chr8:11640400-11643800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:11640400-11644400	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr8:11640400-11644400	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:11640400-11644600	Strong transcription	Spleen	Spleen
33	chr8:11640400-11644800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:11640400-11644800	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:11640400-11645000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:11640400-11645000	Strong transcription	Brain Anterior Caudate	brain
37	chr8:11640400-11645000	Strong transcription	Brain Cingulate Gyrus	brain
38	chr8:11640400-11645600	Strong transcription	HSMMtube	muscle
39	chr8:11640600-11644000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:11640600-11644000	Strong transcription	Adipose Nuclei	Adipose
41	chr8:11640600-11644400	Strong transcription	A549	lung
42	chr8:11640600-11644600	Strong transcription	Placenta	Placenta
43	chr8:11640600-11644800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:11640600-11644800	Strong transcription	Liver	Liver
45	chr8:11640600-11644800	Strong transcription	Brain Hippocampus Middle	brain
46	chr8:11640600-11644800	Strong transcription	HepG2	liver
47	chr8:11640600-11645800	Strong transcription	Fetal Intestine Small	intestine
48	chr8:11640800-11643600	Strong transcription	Ovary	ovary
49	chr8:11640800-11643800	Strong transcription	Aorta	Aorta
50	chr8:11640800-11643800	Strong transcription	Fetal Intestine Large	intestine

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