Variant report

Variant	rs36017347
Chromosome Location	chr11:46726260-46726261
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:46725937-46727890	K562	blood:	n/a	n/a
2	POLR2A	chr11:46725744-46726266	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46715405..46717848-chr11:46725762..46728056,2	K562	blood:
2	chr11:46722213..46727380-chr11:46743173..46747634,5	MCF-7	breast:

Variant related genes	Relation type
ARHGAP1	TF binding region
ENSG00000180210	Chromatin interaction
ENSG00000175220	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11038924	1.00[AMR][1000 genomes]
rs12099188	1.00[AMR][1000 genomes]
rs3136464	1.00[AMR][1000 genomes]
rs3136477	1.00[AMR][1000 genomes]
rs3136492	1.00[AMR][1000 genomes]
rs57328824	1.00[AMR][1000 genomes]
rs57479473	1.00[AMR][1000 genomes]
rs57923752	1.00[AMR][1000 genomes]
rs58634563	1.00[AMR][1000 genomes]
rs59488332	1.00[AMR][1000 genomes]
rs59664414	1.00[AMR][1000 genomes]
rs60026983	1.00[AMR][1000 genomes]
rs60147143	1.00[AMR][1000 genomes]
rs73449906	1.00[AMR][1000 genomes]
rs73449908	1.00[AMR][1000 genomes]
rs73449917	1.00[AMR][1000 genomes]
rs73449920	1.00[AMR][1000 genomes]
rs73449937	1.00[AMR][1000 genomes]
rs73449939	1.00[AMR][1000 genomes]
rs73449943	1.00[AMR][1000 genomes]
rs73449949	1.00[AMR][1000 genomes]
rs73449951	1.00[AMR][1000 genomes]
rs73449956	1.00[AMR][1000 genomes]
rs73449974	1.00[AMR][1000 genomes]
rs73449985	1.00[AMR][1000 genomes]
rs73449986	1.00[AMR][1000 genomes]
rs73450002	1.00[AMR][1000 genomes]
rs73451811	1.00[AMR][1000 genomes]
rs73451819	1.00[AMR][1000 genomes]
rs73451822	1.00[AMR][1000 genomes]
rs73451825	1.00[AMR][1000 genomes]
rs73451848	1.00[AMR][1000 genomes]
rs73451858	1.00[AMR][1000 genomes]
rs73451860	1.00[AMR][1000 genomes]
rs73451863	1.00[AMR][1000 genomes]
rs73451865	1.00[AMR][1000 genomes]
rs73451868	1.00[AMR][1000 genomes]
rs73451873	1.00[AMR][1000 genomes]
rs73451880	1.00[AMR][1000 genomes]
rs73451885	1.00[AMR][1000 genomes]
rs73451887	1.00[AMR][1000 genomes]
rs73451898	1.00[AMR][1000 genomes]
rs73451902	1.00[AMR][1000 genomes]
rs73454026	1.00[AMR][1000 genomes]
rs73454031	1.00[AMR][1000 genomes]
rs73454037	1.00[AMR][1000 genomes]
rs73454041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73454046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73454052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73454054	0.93[AFR][1000 genomes]
rs73454062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467964	1.00[AMR][1000 genomes]
rs73467966	1.00[AMR][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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46723400-46727200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:46723600-46728800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:46723600-46729600	Strong transcription	NHEK	skin
4	chr11:46723600-46730200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:46723600-46730200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:46723600-46732000	Weak transcription	Fetal Heart	heart
7	chr11:46723600-46739800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:46723800-46729200	Strong transcription	Placenta	Placenta
9	chr11:46723800-46729800	Strong transcription	Fetal Lung	lung
10	chr11:46723800-46733000	Strong transcription	Fetal Stomach	stomach
11	chr11:46724000-46727800	Strong transcription	HUVEC	blood vessel
12	chr11:46724000-46728400	Strong transcription	HMEC	breast
13	chr11:46724000-46728600	Strong transcription	NHDF-Ad	bronchial
14	chr11:46724000-46728800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:46724000-46728800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:46724000-46728800	Strong transcription	Primary hematopoietic stem cells	blood
17	chr11:46724000-46729000	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr11:46724000-46729000	Strong transcription	HSMMtube	muscle
19	chr11:46724000-46729000	Strong transcription	NH-A	brain
20	chr11:46724000-46729200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:46724000-46729200	Strong transcription	Thymus	Thymus
22	chr11:46724000-46729200	Strong transcription	K562	blood
23	chr11:46724000-46729400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:46724000-46729600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:46724000-46729600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:46724000-46730000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:46724000-46730200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:46724000-46730200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:46724000-46731000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:46724200-46726400	Strong transcription	HSMM	muscle
31	chr11:46724200-46727200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:46724200-46727600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:46724200-46727800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:46724200-46728800	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr11:46724200-46728800	Strong transcription	Left Ventricle	heart
36	chr11:46724200-46729200	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr11:46724200-46729600	Strong transcription	NHLF	lung
38	chr11:46724200-46730000	Strong transcription	Adipose Nuclei	Adipose
39	chr11:46724400-46726600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:46724400-46727800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:46724400-46728400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:46724400-46728400	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr11:46724400-46729000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:46724400-46729200	Strong transcription	Fetal Intestine Large	intestine
45	chr11:46724400-46729400	Strong transcription	Esophagus	oesophagus
46	chr11:46724400-46729600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:46724400-46729600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:46724400-46729600	Strong transcription	Aorta	Aorta
49	chr11:46724400-46729600	Strong transcription	Brain Angular Gyrus	brain
50	chr11:46724400-46729600	Strong transcription	Rectal Smooth Muscle	rectum

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