Variant report

Variant	rs11865527
Chromosome Location	chr16:70565088-70565089
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70564833..70567767-chr16:70680619..70683338,2	K562	blood:

Variant related genes	Relation type
ENSG00000157368	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10852465	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11075767	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11075768	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11075769	0.90[ASN][1000 genomes]
rs11075770	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11641683	0.88[ASN][1000 genomes]
rs11643344	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11643373	0.87[ASN][1000 genomes]
rs11645437	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11645585	0.88[ASN][1000 genomes]
rs11648402	0.99[ASN][1000 genomes]
rs11649624	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11866400	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12597401	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12909	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12925729	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12933634	0.85[ASN][1000 genomes]
rs2168606	0.84[ASN][1000 genomes]
rs2288491	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2303792	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2303793	0.88[ASN][1000 genomes]
rs33910368	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34567847	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34890962	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3762171	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4284632	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4324119	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4436771	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4513092	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs58963621	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6499320	0.99[ASN][1000 genomes]
rs6499321	0.99[ASN][1000 genomes]
rs71401814	0.99[ASN][1000 genomes]
rs7194521	0.87[ASN][1000 genomes]
rs7195030	0.89[ASN][1000 genomes]
rs7197262	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7199859	0.88[ASN][1000 genomes]
rs7200430	0.88[ASN][1000 genomes]
rs7201750	0.99[ASN][1000 genomes]
rs7204583	0.97[ASN][1000 genomes]
rs722579	0.88[ASN][1000 genomes]
rs8045651	0.88[ASN][1000 genomes]
rs8046881	1.00[ASN][1000 genomes]
rs8049641	0.96[ASN][1000 genomes]
rs8049786	0.94[ASN][1000 genomes]
rs8051506	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8052031	0.87[ASN][1000 genomes]
rs8052125	0.88[ASN][1000 genomes]
rs8053436	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8057610	0.96[ASN][1000 genomes]
rs8062178	0.94[ASN][1000 genomes]
rs8063990	0.88[ASN][1000 genomes]
rs8064013	0.88[ASN][1000 genomes]
rs9635522	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9929904	0.88[ASN][1000 genomes]
rs9936225	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs11865527	RP11-296I10.6	cis	Thyroid	GTEx
rs11865527	EXOSC6	Cis_1M	lymphoblastoid	RTeQTL
rs11865527	IL34	cis	Nerve Tibial	GTEx
rs11865527	EXOSC6	cis	Heart Left Ventricle	GTEx
rs11865527	RP11-296I10.6	cis	Muscle Skeletal	GTEx
rs11865527	PDXDC2P	cis	Muscle Skeletal	GTEx
rs11865527	RP11-296I10.6	cis	Skin Sun Exposed Lower leg	GTEx
rs11865527	RP11-296I10.6	cis	Artery Tibial	GTEx
rs11865527	RP11-296I10.6	cis	Nerve Tibial	GTEx
rs11865527	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs11865527	RP11-296I10.6	cis	Esophagus Muscularis	GTEx
rs11865527	RP11-296I10.6	cis	lung	GTEx
rs11865527	RP11-296I10.6	cis	Heart Left Ventricle	GTEx
rs11865527	CLEC18A	cis	Whole Blood	GTEx
rs11865527	EXOSC6	cis	Muscle Skeletal	GTEx
rs11865527	EXOSC6	cis	Adipose Subcutaneous	GTEx
rs11865527	RP11-296I10.6	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70558800-70565200	Weak transcription	Aorta	Aorta
2	chr16:70559400-70606200	Strong transcription	Fetal Stomach	stomach
3	chr16:70559600-70571400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:70560400-70565200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:70560400-70605200	Strong transcription	Fetal Muscle Trunk	muscle
6	chr16:70560400-70605600	Strong transcription	Placenta	Placenta
7	chr16:70560400-70607800	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr16:70560600-70568800	Strong transcription	Brain Substantia Nigra	brain
9	chr16:70560600-70598800	Strong transcription	Stomach Smooth Muscle	stomach
10	chr16:70560600-70609600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:70560800-70608800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr16:70561000-70569400	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr16:70561000-70569600	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr16:70561000-70605200	Strong transcription	Fetal Muscle Leg	muscle
15	chr16:70561000-70608800	Strong transcription	Fetal Thymus	thymus
16	chr16:70561000-70609000	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr16:70561000-70609400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr16:70561000-70610000	Strong transcription	Thymus	Thymus
19	chr16:70561200-70568000	Strong transcription	Fetal Kidney	kidney
20	chr16:70561200-70587200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
21	chr16:70561200-70602000	Strong transcription	Fetal Intestine Large	intestine
22	chr16:70561200-70609400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr16:70561200-70609600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr16:70561400-70574800	Strong transcription	Fetal Intestine Small	intestine
25	chr16:70561400-70587200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr16:70561400-70605200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr16:70561400-70607600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr16:70561400-70609000	Strong transcription	Primary B cells from cord blood	blood
29	chr16:70561400-70610000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:70561600-70572000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr16:70561600-70609000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr16:70561600-70609200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr16:70561600-70609600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr16:70561600-70609800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr16:70561800-70566400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:70561800-70567600	Weak transcription	Psoas Muscle	Psoas
37	chr16:70561800-70580600	Strong transcription	Left Ventricle	heart
38	chr16:70562200-70568000	Strong transcription	Gastric	stomach
39	chr16:70562200-70609600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr16:70562400-70567200	Strong transcription	Ovary	ovary
41	chr16:70562400-70585200	Strong transcription	Spleen	Spleen
42	chr16:70562600-70594400	Strong transcription	Lung	lung
43	chr16:70562800-70580600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr16:70562800-70608800	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr16:70562800-70609000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:70563000-70590000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:70563000-70606400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr16:70563200-70565600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:70563200-70567600	Strong transcription	Colonic Mucosa	Colon
50	chr16:70563200-70568600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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