Variant report

Variant	rs552953468
Chromosome Location	chr12:122184094-122184095
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122149138..122151891-chr12:122182134..122184327,2	MCF-7	breast:
2	chr12:122181727..122184365-chr12:122185006..122187114,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188735	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv560459	chr12:122167095-122185780	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
5	nsv560460	chr12:122177322-122185780	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv560461	chr12:122177322-122185846	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv560462	chr12:122177322-122186071	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv3500918	chr12:122183269-122188067	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3495976	chr12:122184069-122186867	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122151600-122186200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:122152000-122188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:122152200-122186400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:122152200-122188000	Weak transcription	Brain Germinal Matrix	brain
5	chr12:122152200-122188000	Weak transcription	Dnd41	blood
6	chr12:122152200-122191600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:122152200-122191600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:122152200-122200200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:122152400-122188000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:122152800-122186200	Weak transcription	Pancreas	Pancrea
11	chr12:122154200-122200400	Weak transcription	Psoas Muscle	Psoas
12	chr12:122155200-122186400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:122155600-122186200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:122158800-122186200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:122158800-122186200	Weak transcription	NHDF-Ad	bronchial
16	chr12:122158800-122186400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:122159000-122186200	Weak transcription	NH-A	brain
18	chr12:122159200-122186400	Weak transcription	HSMM	muscle
19	chr12:122159400-122194800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:122163400-122186200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:122163600-122186200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:122163600-122186200	Weak transcription	Liver	Liver
23	chr12:122163600-122186600	Weak transcription	HSMMtube	muscle
24	chr12:122163600-122188000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:122163600-122188200	Weak transcription	Brain Anterior Caudate	brain
26	chr12:122163800-122186200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:122164800-122188200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:122166800-122186200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:122166800-122186200	Weak transcription	Thymus	Thymus
30	chr12:122166800-122186400	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:122167200-122186400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:122167600-122186200	Weak transcription	Spleen	Spleen
33	chr12:122170400-122186200	Weak transcription	Right Atrium	heart
34	chr12:122170600-122186200	Weak transcription	Placenta	Placenta
35	chr12:122172000-122186200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:122174200-122191800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:122176600-122186400	Weak transcription	Hela-S3	cervix
38	chr12:122176600-122187200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:122177800-122186200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:122179200-122186200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:122179800-122211000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:122180000-122186200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:122180000-122186200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:122180000-122186200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:122180200-122191400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr12:122180800-122186200	Weak transcription	Esophagus	oesophagus
47	chr12:122181000-122186200	Weak transcription	HUVEC	blood vessel
48	chr12:122181200-122186200	Weak transcription	Left Ventricle	heart
49	chr12:122181200-122186200	Weak transcription	Ovary	ovary
50	chr12:122181200-122186200	Weak transcription	HepG2	liver

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