Variant report

Variant	rs2368940
Chromosome Location	chr11:120070770-120070771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120069073..120072200-chr11:120106115..120108584,3	K562	blood:

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12793410	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34172399	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2368940	DPAGT1	cis	cerebellum	SCAN
rs2368940	TMPRSS13	cis	cerebellum	SCAN
rs2368940	FXYD6	cis	cerebellum	SCAN
rs2368940	THY1	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120062200-120073600	Enhancers	Fetal Intestine Small	intestine
2	chr11:120065600-120071800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr11:120065800-120074600	Enhancers	Fetal Intestine Large	intestine
4	chr11:120066400-120070800	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr11:120066400-120071000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr11:120066600-120073200	Enhancers	Duodenum Mucosa	Duodenum
7	chr11:120066800-120070800	Enhancers	Liver	Liver
8	chr11:120066800-120071200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr11:120066800-120071200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr11:120068200-120071000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:120068800-120071600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr11:120068800-120078400	Weak transcription	Small Intestine	intestine
13	chr11:120069000-120070800	Enhancers	Colonic Mucosa	Colon
14	chr11:120069000-120071200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:120069200-120071800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:120069200-120072200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:120069800-120070800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr11:120069800-120072000	Weak transcription	Fetal Kidney	kidney
19	chr11:120069800-120074400	Weak transcription	Fetal Lung	lung
20	chr11:120069800-120076000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:120069800-120078400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:120070000-120075200	Weak transcription	Pancreas	Pancrea
23	chr11:120070200-120070800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr11:120070200-120070800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr11:120070200-120071000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
26	chr11:120070200-120077200	Weak transcription	Spleen	Spleen
27	chr11:120070400-120071200	Weak transcription	Brain Anterior Caudate	brain
28	chr11:120070400-120073800	Enhancers	HepG2	liver
29	chr11:120070600-120071000	Enhancers	Placenta	Placenta

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