Variant report

Variant	rs44205
Chromosome Location	chr11:65564786-65564787
allele	C/T
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:4)
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	CTCF	chr11:65564664-65565005	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr11:65564720-65564870	Caco-2	colon:	n/a	n/a
3	RAD21	chr11:65564754-65564852	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65560499..65563074-chr11:65564345..65566524,4	MCF-7	breast:
2	chr11:65562689..65566411-chr11:65620359..65624603,6	K562	blood:
3	chr11:65546923..65549109-chr11:65560977..65565317,4	K562	blood:
4	chr11:65563461..65568166-chr11:65728932..65730847,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255404	TF binding region
ENSG00000175827	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000175467	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs557675	0.95[GIH][hapmap]
rs642803	0.91[GIH][hapmap]
rs644740	0.91[GIH][hapmap]
rs72922786	0.83[ASN][1000 genomes]
rs72922791	0.83[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	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
2	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
3	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
4	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs44205	SNX32	cis	parietal	SCAN
rs44205	FADS3	cis	cerebellum	SCAN
rs44205	MARK2	cis	parietal	SCAN
rs44205	FTH1	cis	parietal	SCAN
rs44205	RTN3	cis	parietal	SCAN
rs44205	SLC22A11	cis	cerebellum	SCAN
rs44205	KAT5	cis	cerebellum	SCAN
rs44205	ESRRA	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65558200-65564800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:65558200-65568800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:65558400-65566200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:65559200-65566000	Weak transcription	Small Intestine	intestine
5	chr11:65559800-65570600	Weak transcription	Spleen	Spleen
6	chr11:65560400-65565600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:65562000-65565600	Weak transcription	HMEC	breast
8	chr11:65562200-65566200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:65562600-65564800	Strong transcription	Duodenum Mucosa	Duodenum
10	chr11:65562600-65564800	Strong transcription	Esophagus	oesophagus
11	chr11:65562600-65565400	Strong transcription	Fetal Intestine Large	intestine
12	chr11:65562800-65568600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:65563000-65566200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:65563200-65565000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:65563400-65566400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:65563400-65567600	Weak transcription	Gastric	stomach
17	chr11:65563400-65576200	Weak transcription	Pancreas	Pancrea
18	chr11:65563800-65566200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr11:65563800-65566800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:65563800-65566800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:65563800-65571000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:65564000-65565200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr11:65564000-65566000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:65564000-65566600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:65564200-65564800	Genic enhancers	Fetal Intestine Small	intestine
26	chr11:65564200-65564800	Enhancers	Fetal Lung	lung
27	chr11:65564200-65565200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:65564200-65566800	Enhancers	Placenta	Placenta
29	chr11:65564400-65564800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:65564400-65565000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:65564400-65565200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:65564400-65565200	Weak transcription	Colonic Mucosa	Colon
33	chr11:65564400-65565600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:65564600-65564800	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr11:65564600-65565200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr11:65564600-65565400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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