Variant report

Variant	rs368209164
Chromosome Location	chr12:118809112-118809113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118789693..118801109-chr12:118805205..118813455,21	K562	blood:
2	chr12:118573102..118576254-chr12:118808901..118815960,7	MCF-7	breast:
3	chr12:118765311..118767097-chr12:118807777..118809983,2	K562	blood:
4	chr12:118791019..118798938-chr12:118809011..118813946,9	MCF-7	breast:
5	chr12:118792933..118800473-chr12:118805927..118813309,24	K562	blood:

Variant related genes	Relation type
ENSG00000089220	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv3413770	chr12:118808569-118812117	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118794800-118809200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:118794800-118809200	Weak transcription	Esophagus	oesophagus
3	chr12:118807000-118809200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:118807200-118809400	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr12:118807200-118811400	Active TSS	NHDF-Ad	bronchial
6	chr12:118808000-118809200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:118808000-118809400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr12:118808000-118811400	Active TSS	NHLF	lung
9	chr12:118808200-118809200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:118808200-118809600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:118808200-118810000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr12:118808400-118809200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:118808400-118809200	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr12:118808400-118809400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:118808400-118809400	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr12:118808400-118809600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr12:118808400-118810000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr12:118808400-118811200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:118808400-118811200	Active TSS	Brain Anterior Caudate	brain
20	chr12:118808400-118811200	Active TSS	Duodenum Mucosa	Duodenum
21	chr12:118808400-118811200	Active TSS	Fetal Intestine Large	intestine
22	chr12:118808400-118811600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:118808600-118809200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
24	chr12:118808600-118809200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr12:118808600-118809200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr12:118808600-118809200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:118808600-118809200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr12:118808600-118809200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr12:118808600-118809200	Flanking Active TSS	Liver	Liver
30	chr12:118808600-118809200	Flanking Active TSS	A549	lung
31	chr12:118808600-118809200	Enhancers	Hela-S3	cervix
32	chr12:118808600-118809200	Flanking Active TSS	K562	blood
33	chr12:118808600-118809400	Flanking Active TSS	HUVEC	blood vessel
34	chr12:118808600-118809600	Bivalent/Poised TSS	Fetal Brain Female	brain
35	chr12:118808600-118810000	Bivalent/Poised TSS	Fetal Kidney	kidney
36	chr12:118808600-118811400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:118808600-118811400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:118808600-118811400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:118808600-118811400	Active TSS	Brain Substantia Nigra	brain
40	chr12:118808600-118811400	Active TSS	Colonic Mucosa	Colon
41	chr12:118808600-118811600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:118808600-118811800	Active TSS	Right Atrium	heart
43	chr12:118808800-118809200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr12:118808800-118809200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
45	chr12:118808800-118809200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr12:118808800-118809200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:118808800-118809200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:118808800-118809200	Active TSS	HepG2	liver
49	chr12:118808800-118809400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:118808800-118809400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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