Variant report

Variant	rs825506
Chromosome Location	chr12:124477499-124477500
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1686736	0.81[AFR][1000 genomes]
rs707335	1.00[AFR][1000 genomes]
rs7974706	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs825470	0.88[AFR][1000 genomes]
rs825478	0.88[AFR][1000 genomes]
rs825511	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3493374	chr12:124458433-124496012	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic 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	13 gene(s)	inside rSNPs	diseases
2	esv3493363	chr12:124458497-124495976	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3493385	chr12:124458565-124495928	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv1818097	chr12:124465667-124488972	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124460400-124479800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:124461200-124496800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:124466000-124477800	Strong transcription	Fetal Stomach	stomach
4	chr12:124469000-124483000	Weak transcription	Ovary	ovary
5	chr12:124469000-124492600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:124469400-124479600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:124470000-124478800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:124470200-124478400	Strong transcription	Hela-S3	cervix
9	chr12:124470800-124490200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:124471000-124478200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:124471000-124478600	Strong transcription	Primary T cells from cord blood	blood
12	chr12:124471600-124478400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:124471600-124478600	Strong transcription	Dnd41	blood
14	chr12:124471800-124477800	Strong transcription	Brain Germinal Matrix	brain
15	chr12:124471800-124480400	Weak transcription	Fetal Brain Male	brain
16	chr12:124472000-124478000	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:124472000-124478200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr12:124472000-124478200	Strong transcription	Stomach Smooth Muscle	stomach
19	chr12:124472000-124478400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr12:124472200-124478200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr12:124472200-124478200	Strong transcription	A549	lung
22	chr12:124472200-124478800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr12:124472600-124477800	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:124472600-124478600	Strong transcription	Fetal Brain Female	brain
25	chr12:124472600-124478600	Strong transcription	Thymus	Thymus
26	chr12:124472800-124477800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:124473400-124477800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:124473400-124477800	Enhancers	Right Ventricle	heart
29	chr12:124473600-124478400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:124473800-124478600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:124474000-124479800	Weak transcription	Esophagus	oesophagus
32	chr12:124474200-124480400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:124474400-124478600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:124474400-124480200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:124474400-124490400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:124474600-124478400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:124474600-124479400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:124474600-124484800	Weak transcription	Fetal Kidney	kidney
39	chr12:124474800-124478600	Genic enhancers	Left Ventricle	heart
40	chr12:124474800-124481200	Enhancers	HMEC	breast
41	chr12:124475000-124477600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:124475000-124478400	Genic enhancers	Fetal Thymus	thymus
43	chr12:124475200-124478200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr12:124475200-124478600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:124475200-124480400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:124475400-124477600	Weak transcription	HSMM	muscle
47	chr12:124475400-124477800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:124475400-124478000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:124475400-124478000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:124475400-124478000	Weak transcription	Colon Smooth Muscle	Colon

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