Variant report

Variant	rs147435383
Chromosome Location	chr11:120312990-120312991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:120312779-120313012	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120310007..120311721-chr11:120311814..120314080,2	MCF-7	breast:
2	chr11:120311224..120316272-chr11:120317740..120322611,5	K562	blood:

Variant related genes	Relation type
ARHGEF12	TF binding region
ENSG00000196914	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	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	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3327475	chr11:120312410-120317541	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120272200-120315600	Weak transcription	Brain Germinal Matrix	brain
2	chr11:120272200-120315800	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:120272400-120320600	Weak transcription	Psoas Muscle	Psoas
4	chr11:120275600-120322200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:120275800-120314000	Weak transcription	Right Ventricle	heart
6	chr11:120277600-120319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:120285600-120319800	Weak transcription	Gastric	stomach
8	chr11:120290400-120313400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:120291800-120319200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:120292000-120315400	Weak transcription	Colonic Mucosa	Colon
11	chr11:120294000-120316000	Weak transcription	Primary B cells from cord blood	blood
12	chr11:120295400-120318600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:120296000-120315800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr11:120296000-120316200	Weak transcription	Esophagus	oesophagus
15	chr11:120296000-120316400	Weak transcription	Lung	lung
16	chr11:120296000-120317600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:120296200-120315400	Weak transcription	Fetal Brain Male	brain
18	chr11:120301400-120355200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:120302600-120316200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:120302800-120317400	Weak transcription	Small Intestine	intestine
21	chr11:120303000-120313400	Weak transcription	Ovary	ovary
22	chr11:120303000-120317000	Weak transcription	K562	blood
23	chr11:120303000-120317400	Weak transcription	Pancreas	Pancrea
24	chr11:120303000-120319400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:120303600-120313000	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:120303600-120313800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:120303600-120314000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:120303600-120319000	Weak transcription	HMEC	breast
29	chr11:120303600-120355600	Weak transcription	Stomach Mucosa	stomach
30	chr11:120303800-120315800	Weak transcription	Fetal Heart	heart
31	chr11:120303800-120319000	Weak transcription	Hela-S3	cervix
32	chr11:120303800-120328000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:120304400-120323200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:120304600-120329800	Strong transcription	HSMM	muscle
35	chr11:120304800-120316400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:120304800-120359400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:120305400-120313800	Weak transcription	A549	lung
38	chr11:120306600-120341200	Strong transcription	Osteobl	bone
39	chr11:120306800-120319800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:120306800-120341600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:120307000-120335800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr11:120307000-120341200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:120307600-120318000	Strong transcription	NHDF-Ad	bronchial
44	chr11:120307600-120334600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:120308000-120319200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:120308000-120341800	Strong transcription	Fetal Intestine Large	intestine
47	chr11:120308000-120352600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:120308000-120359000	Strong transcription	Placenta	Placenta
49	chr11:120308200-120330600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:120308200-120336400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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