Variant report

Variant	rs901747
Chromosome Location	chr11:47204981-47204982
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:47204907-47209088	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:47204957-47205157	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:47204733-47205282	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47203732..47205768-chr11:47206390..47208181,2	MCF-7	breast:
2	chr11:47204494..47207545-chr11:47289955..47292546,3	K562	blood:
3	chr11:47202119..47205492-chr11:47206060..47209673,5	K562	blood:
4	chr11:47204023..47207155-chr11:47207314..47211225,4	K562	blood:
5	chr11:47203683..47208496-chr11:47223862..47228000,5	MCF-7	breast:
6	chr11:47202498..47205214-chr11:47434945..47437570,2	K562	blood:

No data

Variant related genes	Relation type
PACSIN3	TF binding region
ENSG00000165912	Chromatin interaction
ENSG00000266540	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000165915	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10501319	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10742797	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10769226	0.81[ASN][1000 genomes]
rs10769227	0.82[ASN][1000 genomes]
rs10769228	0.82[ASN][1000 genomes]
rs10769248	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10838640	0.81[ASN][1000 genomes]
rs10838641	0.82[ASN][1000 genomes]
rs10838644	0.84[ASN][1000 genomes]
rs10838646	0.84[ASN][1000 genomes]
rs10838652	0.88[ASN][1000 genomes]
rs10838658	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10838662	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10838663	0.95[ASN][1000 genomes]
rs10838664	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11039080	0.88[ASN][1000 genomes]
rs11039081	0.90[ASN][1000 genomes]
rs11039098	0.81[ASN][1000 genomes]
rs11601798	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11603373	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12417519	0.92[ASN][1000 genomes]
rs12574410	0.95[ASN][1000 genomes]
rs2087215	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2279438	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279439	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3758666	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3758667	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3922684	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4269876	0.92[ASN][1000 genomes]
rs4315028	0.90[ASN][1000 genomes]
rs4494268	0.83[ASN][1000 genomes]
rs4498951	0.92[ASN][1000 genomes]
rs4528282	0.81[ASN][1000 genomes]
rs4548577	0.82[ASN][1000 genomes]
rs4576779	0.92[ASN][1000 genomes]
rs4587689	0.92[ASN][1000 genomes]
rs4752965	0.95[ASN][1000 genomes]
rs4752968	0.86[ASN][1000 genomes]
rs4752969	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61896133	0.92[ASN][1000 genomes]
rs61896136	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61897787	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61897844	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61897857	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6485726	0.88[ASN][1000 genomes]
rs7108822	0.87[ASN][1000 genomes]
rs7112854	0.92[ASN][1000 genomes]
rs7114683	0.88[ASN][1000 genomes]
rs7123632	0.81[ASN][1000 genomes]
rs7124648	0.87[ASN][1000 genomes]
rs7126005	0.87[ASN][1000 genomes]
rs7127741	0.88[ASN][1000 genomes]
rs7128650	0.87[ASN][1000 genomes]
rs7130006	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7935346	0.82[ASN][1000 genomes]
rs7937410	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7950753	0.87[ASN][1000 genomes]
rs7951979	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923324	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv897324	chr11:47193566-47212032	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47197000-47207600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr11:47198800-47206400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:47199600-47205600	Weak transcription	NHLF	lung
4	chr11:47199600-47206000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:47199600-47206600	Weak transcription	HUVEC	blood vessel
6	chr11:47199600-47206800	Weak transcription	Fetal Kidney	kidney
7	chr11:47199600-47207000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:47199800-47205000	Weak transcription	Stomach Mucosa	stomach
9	chr11:47199800-47205200	Weak transcription	Fetal Thymus	thymus
10	chr11:47199800-47205600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:47199800-47205800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:47199800-47206000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:47199800-47206200	Strong transcription	NHEK	skin
14	chr11:47199800-47206400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:47199800-47206400	Weak transcription	Osteobl	bone
16	chr11:47200000-47205000	Weak transcription	NHDF-Ad	bronchial
17	chr11:47200000-47205600	Weak transcription	Colonic Mucosa	Colon
18	chr11:47200000-47205600	Strong transcription	Fetal Stomach	stomach
19	chr11:47200000-47205800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:47200000-47205800	Weak transcription	Adipose Nuclei	Adipose
21	chr11:47200000-47205800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:47200000-47206000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:47200000-47206200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:47200000-47206600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:47200000-47206600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:47200000-47207200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:47200200-47205600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:47200200-47206400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:47200200-47206800	Weak transcription	Dnd41	blood
30	chr11:47200400-47205000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:47200400-47207200	Weak transcription	K562	blood
32	chr11:47201400-47205200	Strong transcription	Placenta	Placenta
33	chr11:47201600-47205600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:47201600-47206000	Weak transcription	NH-A	brain
35	chr11:47201600-47206400	Enhancers	Fetal Heart	heart
36	chr11:47201800-47205600	Weak transcription	Brain Angular Gyrus	brain
37	chr11:47201800-47205800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:47201800-47205800	Weak transcription	HMEC	breast
39	chr11:47201800-47206000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:47202000-47205000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:47202000-47205600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:47202000-47206200	Weak transcription	A549	lung
43	chr11:47202200-47205000	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:47202200-47205600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:47202400-47205000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:47202400-47205000	Weak transcription	Brain Anterior Caudate	brain
47	chr11:47202400-47205000	Weak transcription	Brain Substantia Nigra	brain
48	chr11:47202400-47205600	Weak transcription	Lung	lung
49	chr11:47202400-47206200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:47202400-47206400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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