Variant report

Variant	rs11866400
Chromosome Location	chr16:70565534-70565535
allele	C/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:
2	chr16:70556777..70558395-chr16:70565342..70566998,2	K562	blood:

Variant related genes	Relation type
ENSG00000189091	Chromatin interaction
ENSG00000157368	Chromatin interaction
ENSG00000103051	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10852465	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11075767	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11075768	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11075769	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11075770	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11075772	0.80[EUR][1000 genomes]
rs11640374	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs11641683	0.96[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11643344	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11643373	0.96[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11643823	0.91[EUR][1000 genomes]
rs11645092	0.91[EUR][1000 genomes]
rs11645214	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs11645287	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs11645437	0.96[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11645585	0.96[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11648402	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11649624	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11865527	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12447090	0.82[JPT][hapmap]
rs12597401	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12909	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12925729	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12931402	0.88[EUR][1000 genomes]
rs12933634	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2168606	0.96[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2288491	0.96[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2303792	0.89[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2303793	0.96[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs33910368	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34567847	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34890962	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3762171	0.96[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3859068	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs4277334	0.83[EUR][1000 genomes]
rs4284632	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4324119	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4436771	0.96[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4513092	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4592653	0.92[CEU][hapmap];0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs58963621	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6499320	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6499321	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71401814	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7189474	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs7192268	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs7194521	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7195030	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7197262	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7197840	0.95[EUR][1000 genomes]
rs7198317	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs7199859	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7200430	0.96[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7201750	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7204583	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs722579	0.96[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7919	0.87[JPT][hapmap]
rs8045651	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8046881	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8049641	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8049786	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8051506	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8052031	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8052125	0.96[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8053436	0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8057610	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8058224	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs8062178	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8062183	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs8063990	0.96[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8064013	0.96[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs936994	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs9635522	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9929904	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9934440	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs9936225	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11866400	RP11-296I10.6	cis	Nerve Tibial	GTEx
rs11866400	CLEC18A	cis	Whole Blood	GTEx
rs11866400	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs11866400	RP11-296I10.6	cis	Thyroid	GTEx
rs11866400	LOC283970	cis	multi-tissue	Pritchard
rs11866400	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx
rs11866400	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx
rs11866400	CLEC18A	cis	Artery Aorta	GTEx
rs11866400	RP11-296I10.6	cis	Muscle Skeletal	GTEx
rs11866400	RP11-296I10.6	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70559400-70606200	Strong transcription	Fetal Stomach	stomach
2	chr16:70559600-70571400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:70560400-70605200	Strong transcription	Fetal Muscle Trunk	muscle
4	chr16:70560400-70605600	Strong transcription	Placenta	Placenta
5	chr16:70560400-70607800	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr16:70560600-70568800	Strong transcription	Brain Substantia Nigra	brain
7	chr16:70560600-70598800	Strong transcription	Stomach Smooth Muscle	stomach
8	chr16:70560600-70609600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr16:70560800-70608800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr16:70561000-70569400	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr16:70561000-70569600	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:70561000-70605200	Strong transcription	Fetal Muscle Leg	muscle
13	chr16:70561000-70608800	Strong transcription	Fetal Thymus	thymus
14	chr16:70561000-70609000	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr16:70561000-70609400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr16:70561000-70610000	Strong transcription	Thymus	Thymus
17	chr16:70561200-70568000	Strong transcription	Fetal Kidney	kidney
18	chr16:70561200-70587200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
19	chr16:70561200-70602000	Strong transcription	Fetal Intestine Large	intestine
20	chr16:70561200-70609400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr16:70561200-70609600	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr16:70561400-70574800	Strong transcription	Fetal Intestine Small	intestine
23	chr16:70561400-70587200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr16:70561400-70605200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr16:70561400-70607600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr16:70561400-70609000	Strong transcription	Primary B cells from cord blood	blood
27	chr16:70561400-70610000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:70561600-70572000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr16:70561600-70609000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr16:70561600-70609200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr16:70561600-70609600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr16:70561600-70609800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr16:70561800-70566400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr16:70561800-70567600	Weak transcription	Psoas Muscle	Psoas
35	chr16:70561800-70580600	Strong transcription	Left Ventricle	heart
36	chr16:70562200-70568000	Strong transcription	Gastric	stomach
37	chr16:70562200-70609600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr16:70562400-70567200	Strong transcription	Ovary	ovary
39	chr16:70562400-70585200	Strong transcription	Spleen	Spleen
40	chr16:70562600-70594400	Strong transcription	Lung	lung
41	chr16:70562800-70580600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr16:70562800-70608800	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr16:70562800-70609000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:70563000-70590000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:70563000-70606400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:70563200-70565600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:70563200-70567600	Strong transcription	Colonic Mucosa	Colon
48	chr16:70563200-70568600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:70563200-70570400	Strong transcription	Brain Hippocampus Middle	brain
50	chr16:70563200-70574400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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