Variant report

Variant	rs9919526
Chromosome Location	chr11:47451623-47451624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:47451468-47451811	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47451623-47451673	Hela-S3	cervix:	n/a
2	chr11:47451623-47451673	ProgFib	skin:	n/a
3	chr11:47451623-47451673	CMK	blood:	n/a
4	chr11:47451623-47451673	AG04449	skin:	fetal
5	chr11:47451623-47451673	HPAEpiC	pulmonary alveolar:	n/a
6	chr11:47451623-47451673	NHDF-neo	bronchial:	n/a
7	chr11:47451623-47451673	AoSMC	blood vessel:	n/a
8	chr11:47451623-47451673	SK-N-SH_RA	brain:	n/a
9	chr11:47451623-47451673	GM19239	blood:	n/a
10	chr11:47451623-47451673	NHBE	bronchial:	n/a
11	chr11:47451623-47451673	PrEC	prostate:	n/a
12	chr11:47451623-47451673	T-47D	breast:	n/a
13	chr11:47451623-47451673	LNCaP	prostate:	n/a
14	chr11:47451623-47451673	HUVEC	blood vessel:	n/a
15	chr11:47451623-47451673	HRCEpiC	kidney:	n/a
16	chr11:47451623-47451673	HNPCEpiC	eye:	n/a
17	chr11:47451623-47451673	SKMC	muscle:	n/a
18	chr11:47451623-47451673	AG10803	skin:	n/a
19	chr11:47451623-47451673	MCF-7	breast:	n/a
20	chr11:47451623-47451673	HMEC	breast:	n/a
21	chr11:47451623-47451673	Caco-2	colon:	n/a
22	chr11:47451623-47451673	BE2_C	brain:	n/a
23	chr11:47451623-47451673	Jurkat	blood:	n/a
24	chr11:47451623-47451673	MCF10A-Er-Src	breast:	n/a
25	chr11:47451623-47451673	PFSK-1	brain:	n/a
26	chr11:47451623-47451673	HAEpiC	amniotic membrane:	n/a
27	chr11:47451623-47451673	GM12878	blood:	n/a
28	chr11:47451623-47451673	ovcar-3	ovarian:	n/a
29	chr11:47451623-47451673	SAEC	small airway:	n/a
30	chr11:47451623-47451673	K562	blood:	n/a
31	chr11:47451623-47451673	AG09309	skin:	n/a
32	chr11:47451623-47451673	PANC-1	pancreas:	n/a
33	chr11:47451623-47451673	BJ	skin:	n/a
34	chr11:47451623-47451673	H1-hESC	embryonic stem cell:	embryo
35	chr11:47451623-47451673	HCF	heart:	n/a
36	chr11:47451623-47451673	HEK293	kidney:	embryo
37	chr11:47451623-47451673	HCT-116	colon:	n/a
38	chr11:47451623-47451673	NH-A	brain:	n/a
39	chr11:47451623-47451673	HRE	kidney:	n/a
40	chr11:47451623-47451673	HCPEpiC	choroid plexus:	n/a
41	chr11:47451623-47451673	AG09319	gingival:	n/a
42	chr11:47451623-47451673	HepG2	liver:	n/a
43	chr11:47451623-47451673	HCM	heart:	n/a
44	chr11:47451623-47451673	IMR90	lung:	fetal
45	chr11:47451623-47451673	GM12892	blood:	n/a
46	chr11:47451623-47451673	U87	brain:	n/a
47	chr11:47451623-47451673	HL-60	blood:	n/a
48	chr11:47451623-47451673	NT2-D1	testis:	n/a
49	chr11:47451623-47451673	SK-N-MC	brain:	n/a
50	chr11:47451623-47451673	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47448979..47451743-chr11:47463608..47465807,2	K562	blood:
2	chr11:47449466..47452099-chr11:47461409..47464766,3	MCF-7	breast:

No data

Variant related genes	Relation type
PSMC3	TF binding region
PSMC3	CpG island
ENSG00000252327	Chromatin interaction
ENSG00000165917	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1044269	0.80[ASN][1000 genomes]
rs10742805	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10742806	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10769267	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11820650	0.82[ASN][1000 genomes]
rs11820680	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11821917	0.82[ASN][1000 genomes]
rs11824864	0.82[ASN][1000 genomes]
rs11827106	0.80[ASN][1000 genomes]
rs11828339	0.82[ASN][1000 genomes]
rs12282783	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12419342	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17198158	0.83[ASN][1000 genomes]
rs17790804	0.85[ASN][1000 genomes]
rs2242511	0.83[ASN][1000 genomes]
rs3740684	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3740685	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3781628	0.82[ASN][1000 genomes]
rs3824867	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3847503	0.85[ASN][1000 genomes]
rs4237544	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4282946	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4384349	0.80[ASN][1000 genomes]
rs4752829	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4752836	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4752837	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4752992	0.82[ASN][1000 genomes]
rs60380053	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60882887	0.84[ASN][1000 genomes]
rs61000762	0.84[ASN][1000 genomes]
rs7101772	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7104366	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7105122	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7105907	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7107853	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7108143	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7111873	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117277	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119556	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7125468	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7126210	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7130693	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753812	0.84[ASN][1000 genomes]
rs7948705	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9734013	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
6	nsv975328	chr11:47446815-47471052	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47448600-47452000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:47448600-47452200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:47448600-47459600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:47448600-47488400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:47448800-47452000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:47448800-47452000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:47448800-47453000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:47448800-47453000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:47448800-47454800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:47449000-47452000	Weak transcription	Primary T cells from cord blood	blood
11	chr11:47449000-47452200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:47449000-47453200	Weak transcription	Psoas Muscle	Psoas
13	chr11:47449000-47454800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:47449000-47454800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:47449000-47454800	Weak transcription	HSMM	muscle
16	chr11:47449000-47457200	Weak transcription	Right Atrium	heart
17	chr11:47449000-47459200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:47449000-47459400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:47449800-47454800	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:47449800-47454800	Weak transcription	HSMMtube	muscle
21	chr11:47451400-47451800	Weak transcription	HepG2	liver
22	chr11:47451400-47454000	Enhancers	Fetal Thymus	thymus
23	chr11:47451600-47453400	Enhancers	Thymus	Thymus
24	chr11:47451600-47454200	Enhancers	Liver	Liver

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