Variant report

Variant	rs12814006
Chromosome Location	chr12:122154617-122154618
allele	C/T
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122144623..122148014-chr12:122154600..122158255,3	MCF-7	breast:
2	chr12:122152731..122155378-chr12:122233490..122235534,2	MCF-7	breast:
3	chr12:122151917..122156679-chr12:122158990..122161990,5	MCF-7	breast:
4	chr12:122154279..122156536-chr12:122192092..122194688,2	MCF-7	breast:
5	chr12:122147215..122155218-chr12:122185094..122190846,22	MCF-7	breast:
6	chr12:122149668..122153356-chr12:122153508..122157452,6	K562	blood:
7	chr12:122150615..122153194-chr12:122153260..122155057,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272849	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000188735	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2954114	0.86[EUR][1000 genomes]
rs34933970	0.81[EUR][1000 genomes]
rs7976443	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122151600-122160800	Weak transcription	Aorta	Aorta
2	chr12:122151600-122186200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:122151800-122154800	Weak transcription	Fetal Kidney	kidney
4	chr12:122151800-122155000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:122151800-122155200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:122151800-122158000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:122151800-122159200	Weak transcription	Esophagus	oesophagus
8	chr12:122151800-122160600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:122152000-122154800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:122152000-122154800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:122152000-122156600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:122152000-122161200	Weak transcription	Gastric	stomach
13	chr12:122152000-122162600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:122152000-122164000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:122152000-122164000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:122152000-122164600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:122152000-122166400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:122152000-122167400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:122152000-122182200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:122152000-122188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:122152200-122154800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:122152200-122154800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:122152200-122154800	Weak transcription	Fetal Thymus	thymus
24	chr12:122152200-122154800	Weak transcription	Spleen	Spleen
25	chr12:122152200-122154800	Weak transcription	HSMMtube	muscle
26	chr12:122152200-122154800	Weak transcription	NHDF-Ad	bronchial
27	chr12:122152200-122155000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:122152200-122155000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:122152200-122155000	Weak transcription	NHLF	lung
30	chr12:122152200-122155600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:122152200-122157800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:122152200-122157800	Weak transcription	HMEC	breast
33	chr12:122152200-122160600	Weak transcription	Left Ventricle	heart
34	chr12:122152200-122161200	Weak transcription	Right Atrium	heart
35	chr12:122152200-122162800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:122152200-122162800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:122152200-122162800	Weak transcription	Liver	Liver
38	chr12:122152200-122165000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:122152200-122166600	Weak transcription	Ovary	ovary
40	chr12:122152200-122181600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:122152200-122181800	Weak transcription	Right Ventricle	heart
42	chr12:122152200-122186400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:122152200-122188000	Weak transcription	Brain Germinal Matrix	brain
44	chr12:122152200-122188000	Weak transcription	Dnd41	blood
45	chr12:122152200-122191600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:122152200-122191600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:122152200-122200200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:122152400-122155000	Weak transcription	Lung	lung
49	chr12:122152400-122161800	Weak transcription	Fetal Brain Male	brain
50	chr12:122152400-122171600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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