Variant report

Variant	rs7109710
Chromosome Location	chr11:47575760-47575761
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr11:47572014-47576147	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr11:47573488-47576180	SK-N-SH	brain:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47574731..47576300-chr11:47662842..47665099,2	K562	blood:
2	chr11:47571371..47576564-chr11:47585605..47588889,10	MCF-7	breast:
3	chr11:47575688..47578616-chr11:47585610..47588611,3	K562	blood:
4	chr11:47574930..47577234-chr11:47594765..47596418,2	MCF-7	breast:
5	chr11:47575579..47578689-chr11:47598407..47601977,4	MCF-7	breast:
6	chr11:47573178..47576577-chr11:47600513..47602811,3	K562	blood:
7	chr11:47574450..47575951-chr11:47599292..47600981,2	MCF-7	breast:
8	chr11:47571923..47578059-chr11:47583779..47591283,17	MCF-7	breast:
9	chr11:47519377..47521750-chr11:47574004..47575986,3	MCF-7	breast:
10	chr11:47572750..47576231-chr11:47662956..47665605,3	K562	blood:
11	chr11:47575048..47576708-chr11:47593287..47595867,2	K562	blood:
12	chr11:47572291..47576392-chr11:47598056..47603377,7	K562	blood:

No data

Variant related genes	Relation type
CELF1	TF binding region
ENSG00000123444	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000109919	Chromatin interaction
ENSG00000200376	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000213619	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11039291	1.00[ASN][1000 genomes]
rs60582355	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47575200-47575800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:47575200-47575800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr11:47575200-47576000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr11:47575200-47576000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:47575200-47576000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr11:47575200-47578600	Weak transcription	HepG2	liver
7	chr11:47575200-47586000	Weak transcription	HSMMtube	muscle
8	chr11:47575200-47586200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr11:47575200-47586200	Weak transcription	Placenta	Placenta
10	chr11:47575200-47586400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:47575200-47586400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:47575200-47586400	Weak transcription	Psoas Muscle	Psoas
13	chr11:47575200-47586600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:47575200-47586600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:47575200-47586600	Weak transcription	Gastric	stomach
16	chr11:47575200-47586600	Weak transcription	Ovary	ovary
17	chr11:47575400-47575800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:47575400-47575800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr11:47575400-47575800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr11:47575400-47575800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr11:47575400-47575800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:47575400-47575800	Enhancers	Primary hematopoietic stem cells	blood
23	chr11:47575400-47575800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:47575400-47575800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:47575400-47575800	Enhancers	Brain Anterior Caudate	brain
26	chr11:47575400-47576200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:47575400-47578600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:47575400-47581600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:47575400-47581600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:47575400-47581800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:47575400-47581800	Weak transcription	Osteobl	bone
32	chr11:47575400-47586000	Weak transcription	Primary B cells from cord blood	blood
33	chr11:47575400-47586200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:47575400-47586200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:47575400-47586200	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:47575400-47586200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:47575400-47586200	Weak transcription	A549	lung
38	chr11:47575400-47586200	Weak transcription	NHEK	skin
39	chr11:47575400-47586400	Weak transcription	Brain Angular Gyrus	brain
40	chr11:47575400-47586400	Weak transcription	Fetal Stomach	stomach
41	chr11:47575400-47586400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:47575400-47586400	Weak transcription	NH-A	brain
43	chr11:47575600-47575800	Enhancers	Fetal Brain Male	brain
44	chr11:47575600-47575800	Enhancers	Fetal Brain Female	brain
45	chr11:47575600-47576200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:47575600-47576200	Enhancers	Dnd41	blood
47	chr11:47575600-47577600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:47575600-47581600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:47575600-47581600	Weak transcription	Hela-S3	cervix
50	chr11:47575600-47584400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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