Variant report

Variant	rs11643926
Chromosome Location	chr16:69807282-69807283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr16:69807008-69807461	K562	blood:	n/a	n/a
2	HDAC2	chr16:69807109-69807410	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:69801326..69804144-chr16:69805460..69809751,5	K562	blood:
2	chr16:69787397..69789897-chr16:69805438..69807476,2	MCF-7	breast:
3	chr16:69795573..69798488-chr16:69807022..69810242,5	K562	blood:
4	chr16:69801430..69804144-chr16:69805898..69809751,3	K562	blood:
5	chr16:69807100..69810099-chr16:69813476..69816910,4	K562	blood:
6	chr16:69795131..69797441-chr16:69806211..69807716,2	MCF-7	breast:
7	chr16:69794457..69798184-chr16:69807022..69810693,5	K562	blood:
8	chr16:69804983..69807753-chr16:69808431..69810335,2	K562	blood:

No data

Variant related genes	Relation type
WWP2	TF binding region
ENSG00000198373	Chromatin interaction
ENSG00000141101	Chromatin interaction
ENSG00000252670	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10048108	0.84[EUR][1000 genomes]
rs10163235	0.84[EUR][1000 genomes]
rs10454066	0.83[EUR][1000 genomes]
rs11075733	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11075734	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1139178	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11641521	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11644838	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11644914	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11646884	0.80[EUR][1000 genomes]
rs12232410	0.82[EUR][1000 genomes]
rs12446201	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12447883	0.83[EUR][1000 genomes]
rs12595869	0.83[EUR][1000 genomes]
rs12596679	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12925371	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1437135	0.86[EUR][1000 genomes]
rs16959035	0.84[EUR][1000 genomes]
rs1800566	0.84[EUR][1000 genomes]
rs1865965	0.83[EUR][1000 genomes]
rs2196574	0.86[EUR][1000 genomes]
rs2361839	0.84[EUR][1000 genomes]
rs3743673	0.85[EUR][1000 genomes]
rs3811349	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4078387	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4464069	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4497676	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4580150	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4985518	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4985523	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55701476	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55863174	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55992518	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56282083	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56316408	0.80[EUR][1000 genomes]
rs57488237	0.84[EUR][1000 genomes]
rs57518557	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57565297	0.83[EUR][1000 genomes]
rs59295369	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60231938	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60472033	0.80[EUR][1000 genomes]
rs61426398	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6499253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6499255	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs689455	0.86[EUR][1000 genomes]
rs7186002	0.86[EUR][1000 genomes]
rs7189424	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7198242	0.80[EUR][1000 genomes]
rs73579458	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73579497	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74029403	0.82[EUR][1000 genomes]
rs8045142	0.80[EUR][1000 genomes]
rs8045682	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8046314	0.82[EUR][1000 genomes]
rs8047885	0.80[EUR][1000 genomes]
rs8052086	0.80[EUR][1000 genomes]
rs8054096	0.82[EUR][1000 genomes]
rs8059345	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8060588	0.80[EUR][1000 genomes]
rs9788837	0.80[EUR][1000 genomes]
rs9921045	0.84[EUR][1000 genomes]
rs9933526	0.85[EUR][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	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11643926	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69797200-69809800	Weak transcription	Small Intestine	intestine
2	chr16:69797400-69821200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr16:69797600-69808200	Weak transcription	Primary T cells from cord blood	blood
4	chr16:69797600-69816800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:69797600-69853400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:69797800-69809200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr16:69797800-69809200	Weak transcription	A549	lung
8	chr16:69797800-69809800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr16:69797800-69821200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr16:69798000-69809200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr16:69798000-69809400	Weak transcription	Dnd41	blood
12	chr16:69798000-69810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:69800600-69817200	Weak transcription	Fetal Stomach	stomach
14	chr16:69800600-69817600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:69802200-69809200	Weak transcription	Fetal Intestine Large	intestine
16	chr16:69802800-69808200	Weak transcription	Fetal Intestine Small	intestine
17	chr16:69802800-69821400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:69803000-69823400	Weak transcription	Right Ventricle	heart
19	chr16:69803400-69830200	Weak transcription	Fetal Heart	heart
20	chr16:69804200-69807800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr16:69804400-69808600	Enhancers	Primary B cells from peripheral blood	blood
22	chr16:69804600-69807600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr16:69804800-69814400	Weak transcription	Lung	lung
24	chr16:69805200-69807800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr16:69805600-69807600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr16:69806200-69807400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:69806200-69807800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr16:69806200-69808000	Enhancers	Brain Germinal Matrix	brain
29	chr16:69806200-69808600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr16:69806400-69807400	Enhancers	Ovary	ovary
31	chr16:69806400-69807400	Enhancers	HSMM	muscle
32	chr16:69806400-69807600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:69806400-69807800	Enhancers	Brain Hippocampus Middle	brain
34	chr16:69806400-69808000	Enhancers	Primary B cells from cord blood	blood
35	chr16:69806600-69807400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:69806600-69807600	Enhancers	Right Atrium	heart
37	chr16:69806600-69812200	Weak transcription	Fetal Thymus	thymus
38	chr16:69806800-69807400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr16:69806800-69807400	Enhancers	Fetal Muscle Leg	muscle
40	chr16:69806800-69807600	Weak transcription	Liver	Liver
41	chr16:69806800-69808200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr16:69806800-69809800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr16:69806800-69809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr16:69806800-69809800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr16:69806800-69817600	Weak transcription	Gastric	stomach
46	chr16:69806800-69821000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:69806800-69821200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr16:69806800-69830200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr16:69806800-69833000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr16:69807000-69807400	Enhancers	Fetal Muscle Trunk	muscle

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