Variant report

Variant	rs199688319
Chromosome Location	chr12:29502059-29502060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1796867	chr12:29501941-29524159	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29427200-29527400	Weak transcription	Small Intestine	intestine
2	chr12:29462600-29533000	Weak transcription	Aorta	Aorta
3	chr12:29470800-29508400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:29470800-29532800	Weak transcription	Right Ventricle	heart
5	chr12:29473800-29522600	Weak transcription	NHEK	skin
6	chr12:29476000-29502600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:29476200-29509400	Weak transcription	Spleen	Spleen
8	chr12:29476200-29512800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:29476200-29533400	Weak transcription	Pancreas	Pancrea
10	chr12:29476400-29509600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:29476400-29532600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:29476400-29533200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:29477000-29517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:29483400-29518000	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:29484200-29532000	Weak transcription	Fetal Brain Male	brain
16	chr12:29485600-29533400	Weak transcription	Gastric	stomach
17	chr12:29486800-29528600	Weak transcription	Psoas Muscle	Psoas
18	chr12:29487000-29533000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:29488600-29503800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:29488800-29532000	Weak transcription	NHLF	lung
21	chr12:29489600-29525600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:29489800-29510000	Weak transcription	Brain Germinal Matrix	brain
23	chr12:29490000-29502800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:29490000-29533400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:29490000-29533400	Weak transcription	Esophagus	oesophagus
26	chr12:29490200-29502200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:29490200-29506000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:29490400-29502800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:29490400-29524600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:29490600-29503000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr12:29491000-29511400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:29491200-29502600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:29491400-29506400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr12:29492200-29502800	Strong transcription	Placenta	Placenta
35	chr12:29492400-29511800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:29492400-29518000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:29492800-29511800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:29492800-29519000	Weak transcription	HepG2	liver
39	chr12:29493000-29503200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:29493200-29504800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:29493600-29532600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:29494400-29517800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr12:29494400-29532400	Weak transcription	Brain Substantia Nigra	brain
44	chr12:29494600-29509000	Weak transcription	Lung	lung
45	chr12:29494600-29511800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:29494600-29532800	Weak transcription	Colonic Mucosa	Colon
47	chr12:29495800-29503400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:29496400-29509200	Weak transcription	Left Ventricle	heart
49	chr12:29496400-29518000	Weak transcription	Brain Anterior Caudate	brain
50	chr12:29496400-29518000	Weak transcription	Thymus	Thymus

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