Variant report

Variant	rs11039378
Chromosome Location	chr11:47790916-47790917
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:7)
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	chr11:47790235-47791034	HepG2	liver:	n/a	n/a
2	MAFK	chr11:47790805-47790966	HepG2	liver:	n/a	chr11:47790908-47790923
3	HCFC1	chr11:47787205-47790945	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47788484..47791292-chr11:47808124..47811253,3	K562	blood:
2	chr11:47771480..47774571-chr11:47789058..47790932,3	MCF-7	breast:
3	chr11:47789006..47791517-chr11:47814030..47815802,2	MCF-7	breast:
4	chr11:47662615..47665881-chr11:47786940..47791485,8	K562	blood:
5	chr11:47789258..47792830-chr11:47805227..47807948,3	K562	blood:
6	chr11:47776501..47778093-chr11:47789234..47791765,2	MCF-7	breast:
7	chr11:47789816..47791607-chr11:47861302..47863257,3	K562	blood:

No data

Variant related genes	Relation type
FNBP4	TF binding region
ENSG00000109919	Chromatin interaction
ENSG00000271557	Chromatin interaction
ENSG00000030066	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10466480	0.91[EUR][1000 genomes]
rs11039358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11602961	0.96[EUR][1000 genomes]
rs11605085	0.89[EUR][1000 genomes]
rs11605681	0.84[EUR][1000 genomes]
rs11608017	0.84[EUR][1000 genomes]
rs12274199	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274437	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12279350	0.91[EUR][1000 genomes]
rs2903989	0.84[EUR][1000 genomes]
rs2904129	0.96[EUR][1000 genomes]
rs58300928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60994035	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7105517	0.84[EUR][1000 genomes]
rs7113438	0.84[EUR][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	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47789600-47796600	Weak transcription	Lung	lung
2	chr11:47789800-47791400	Enhancers	Fetal Heart	heart
3	chr11:47789800-47798600	Weak transcription	Ovary	ovary
4	chr11:47790000-47797200	Weak transcription	Gastric	stomach
5	chr11:47790000-47798800	Weak transcription	Colonic Mucosa	Colon
6	chr11:47790000-47800200	Weak transcription	Psoas Muscle	Psoas
7	chr11:47790000-47800200	Weak transcription	Stomach Mucosa	stomach
8	chr11:47790000-47806800	Weak transcription	Esophagus	oesophagus
9	chr11:47790000-47837800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:47790200-47791000	Enhancers	Duodenum Mucosa	Duodenum
11	chr11:47790200-47791000	Enhancers	Fetal Intestine Small	intestine
12	chr11:47790200-47791000	Enhancers	K562	blood
13	chr11:47790200-47795200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:47790200-47796000	Weak transcription	Fetal Lung	lung
15	chr11:47790200-47796200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:47790200-47796200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:47790200-47796200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:47790200-47796200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:47790200-47796200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:47790200-47796200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:47790200-47796400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:47790200-47796400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:47790200-47796400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:47790200-47796600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:47790200-47796600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:47790200-47796600	Weak transcription	Aorta	Aorta
27	chr11:47790200-47796800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:47790200-47796800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:47790200-47796800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:47790200-47798400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:47790200-47798600	Weak transcription	Pancreas	Pancrea
32	chr11:47790200-47798800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:47790200-47798800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:47790200-47798800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:47790200-47798800	Weak transcription	Right Ventricle	heart
36	chr11:47790200-47799000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:47790200-47801000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:47790200-47801600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:47790200-47805200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr11:47790200-47869200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr11:47790400-47791400	Enhancers	Hela-S3	cervix
42	chr11:47790400-47795400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:47790400-47795600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:47790400-47796000	Weak transcription	Thymus	Thymus
45	chr11:47790400-47796200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:47790400-47796200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:47790400-47796200	Weak transcription	Primary T cells from cord blood	blood
48	chr11:47790400-47796200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:47790400-47796200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:47790400-47796200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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