Variant report

Variant	rs372172569
Chromosome Location	chr11:46403810-46403811
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46401836..46403864-chr11:46637074..46639458,2	K562	blood:
2	chr11:46316878..46318719-chr11:46403768..46406390,2	K562	blood:
3	chr11:46391433..46393341-chr11:46403120..46407243,3	MCF-7	breast:
4	chr11:46402485..46405164-chr11:46638326..46640546,2	MCF-7	breast:
5	chr11:46368689..46375486-chr11:46400770..46406098,12	K562	blood:
6	chr11:46387947..46390422-chr11:46401426..46404815,4	MCF-7	breast:
7	chr11:46403212..46404191-chr8:23386218..23387002,2	HCT-116	colon:
8	chr11:46368337..46369929-chr11:46403347..46406253,2	MCF-7	breast:
9	chr11:46402912..46405362-chr11:46740261..46742073,2	K562	blood:
10	chr11:46393877..46398500-chr11:46401419..46405642,6	MCF-7	breast:
11	chr11:46256874..46260563-chr11:46399060..46405748,9	K562	blood:
12	chr11:46141914..46143962-chr11:46401995..46404790,2	K562	blood:
13	chr11:46383271..46387552-chr11:46403551..46406378,4	MCF-7	breast:
14	chr11:46401089..46404766-chr11:46549861..46553085,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254639	Chromatin interaction
ENSG00000180210	Chromatin interaction
ENSG00000180423	Chromatin interaction
ENSG00000175224	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000110497	Chromatin interaction
ENSG00000264102	Chromatin interaction
ENSG00000147454	Chromatin interaction
ENSG00000135365	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS 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	21 gene(s)	inside rSNPs	diseases
3	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
4	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
5	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897318	chr11:46388220-46417815	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
8	nsv897319	chr11:46396479-46417815	Genic enhancers Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv554203	chr11:46399538-46406497	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv309	chr11:46399678-46440503	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv897320	chr11:46399901-46417815	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv3359255	chr11:46401901-46404749	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
13	esv3407445	chr11:46402151-46404424	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 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	chr11:46400800-46404400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr11:46401200-46404200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:46401200-46404200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:46401200-46404400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:46401200-46404400	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr11:46401400-46404000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:46401400-46404200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:46401400-46404200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:46401400-46404400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr11:46401400-46404400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:46401400-46404400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:46401400-46404400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:46401600-46404000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:46401600-46404200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:46401600-46404200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:46401600-46404200	Active TSS	Fetal Intestine Large	intestine
17	chr11:46401800-46404000	Active TSS	Osteobl	bone
18	chr11:46402000-46404000	Active TSS	Aorta	Aorta
19	chr11:46402000-46404200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr11:46402000-46404200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr11:46402000-46404200	Active TSS	Fetal Lung	lung
22	chr11:46402000-46404200	Active TSS	Ovary	ovary
23	chr11:46402000-46404400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:46402000-46404800	Active TSS	Fetal Kidney	kidney
25	chr11:46402200-46404200	Active TSS	NHDF-Ad	bronchial
26	chr11:46402400-46404000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:46402400-46404200	Transcr. at gene 5' and 3'	Right Atrium	heart
28	chr11:46402400-46404400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:46402400-46404400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:46402800-46404000	Active TSS	HepG2	liver
31	chr11:46402800-46404400	Weak transcription	Hela-S3	cervix
32	chr11:46402800-46405000	Active TSS	HSMM	muscle
33	chr11:46403000-46404000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:46403400-46404000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
35	chr11:46403400-46404000	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr11:46403400-46404000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
37	chr11:46403400-46404000	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr11:46403400-46404000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
39	chr11:46403400-46404000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:46403400-46404000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr11:46403400-46404000	Flanking Active TSS	Liver	Liver
42	chr11:46403400-46404000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr11:46403400-46404000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr11:46403400-46404000	Flanking Active TSS	Pancreas	Pancrea
45	chr11:46403400-46404000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr11:46403400-46404000	Flanking Bivalent TSS/Enh	Dnd41	blood
47	chr11:46403400-46404200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:46403400-46404200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:46403400-46404200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:46403400-46404200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin

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