Variant report

Variant	rs138565707
Chromosome Location	chr12:120553548-120553549
allele	-/GT
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120552974..120555854-chr12:120934971..120936620,2	K562	blood:
2	chr12:120552488..120558210-chr12:120630092..120634088,8	MCF-7	breast:
3	chr12:120551826..120556882-chr12:120630846..120640383,26	K562	blood:
4	chr12:120548888..120559202-chr12:120724492..120734002,35	MCF-7	breast:
5	chr12:120534104..120540073-chr12:120552292..120555790,7	K562	blood:
6	chr12:120516359..120519600-chr12:120552938..120556302,7	MCF-7	breast:
7	chr12:120553299..120556376-chr12:120632430..120634315,3	MCF-7	breast:
8	chr12:120550994..120553800-chr12:120627908..120629484,2	K562	blood:
9	chr12:120537177..120551260-chr12:120551865..120557471,32	MCF-7	breast:
10	chr12:120553041..120557313-chr12:120636619..120640383,10	K562	blood:
11	chr12:120528996..120531217-chr12:120552975..120554934,2	MCF-7	breast:
12	chr12:120551105..120556435-chr12:120727138..120732848,13	K562	blood:
13	chr12:120552161..120556177-chr12:120630368..120635589,11	K562	blood:
14	chr12:120425209..120429306-chr12:120552934..120555400,5	MCF-7	breast:
15	chr12:120551667..120557354-chr12:120726466..120731431,13	MCF-7	breast:
16	chr12:120552903..120558662-chr12:120635855..120639972,12	MCF-7	breast:
17	chr12:120551112..120557922-chr12:120727181..120731830,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000089154	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000135127	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000089157	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	esv3408817	chr12:120553094-120555942	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv3345428	chr12:120553419-120556067	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120543400-120553600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120549200-120553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:120549200-120553600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:120549800-120553800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:120551200-120553800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:120551600-120553600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:120552200-120553600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
8	chr12:120552200-120553600	Enhancers	Small Intestine	intestine
9	chr12:120552200-120553600	Transcr. at gene 5' and 3'	Hela-S3	cervix
10	chr12:120552200-120554200	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr12:120552400-120553600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
12	chr12:120552400-120553800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:120552400-120553800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:120552600-120553600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
15	chr12:120552600-120553600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
16	chr12:120552600-120553600	Enhancers	Ovary	ovary
17	chr12:120552600-120553800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:120552600-120553800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:120552600-120553800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr12:120552600-120553800	Enhancers	Spleen	Spleen
21	chr12:120552600-120554200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:120552600-120554200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr12:120552600-120554200	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr12:120552800-120553600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:120552800-120553800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:120552800-120553800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:120552800-120553800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr12:120552800-120553800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr12:120552800-120554000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:120552800-120554000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:120552800-120554000	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr12:120552800-120554000	Transcr. at gene 5' and 3'	HSMM	muscle
33	chr12:120552800-120554000	Flanking Active TSS	HUVEC	blood vessel
34	chr12:120552800-120554200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:120552800-120554200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr12:120552800-120554200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:120552800-120554200	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr12:120553000-120553600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:120553000-120553600	Flanking Active TSS	Esophagus	oesophagus
40	chr12:120553000-120553600	Enhancers	Fetal Kidney	kidney
41	chr12:120553000-120553600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr12:120553000-120553600	Flanking Active TSS	GM12878-XiMat	blood
43	chr12:120553000-120553800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:120553000-120553800	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr12:120553000-120553800	Enhancers	Fetal Heart	heart
46	chr12:120553000-120553800	Flanking Active TSS	NHDF-Ad	bronchial
47	chr12:120553000-120554000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:120553000-120554000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr12:120553000-120554000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:120553000-120554000	Flanking Active TSS	Brain Anterior Caudate	brain

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