Variant report

Variant	rs536723456
Chromosome Location	chr12:29513578-29513579
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:29489097..29490633-chr12:29512483..29514735,2	K562	blood:
2	chr12:29301582..29303959-chr12:29510766..29513729,2	K562	blood:
3	chr12:29504698..29507288-chr12:29512167..29514486,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064763	Chromatin interaction
ENSG00000257258	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	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
4	esv3362202	chr12:29512585-29514583	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 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	chr12:29470800-29532800	Weak transcription	Right Ventricle	heart
4	chr12:29473800-29522600	Weak transcription	NHEK	skin
5	chr12:29476200-29533400	Weak transcription	Pancreas	Pancrea
6	chr12:29476400-29532600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:29476400-29533200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:29477000-29517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:29483400-29518000	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:29484200-29532000	Weak transcription	Fetal Brain Male	brain
11	chr12:29485600-29533400	Weak transcription	Gastric	stomach
12	chr12:29486800-29528600	Weak transcription	Psoas Muscle	Psoas
13	chr12:29487000-29533000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:29488800-29532000	Weak transcription	NHLF	lung
15	chr12:29489600-29525600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:29490000-29533400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:29490000-29533400	Weak transcription	Esophagus	oesophagus
18	chr12:29490400-29524600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:29492400-29518000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:29492800-29519000	Weak transcription	HepG2	liver
21	chr12:29493600-29532600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:29494400-29517800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr12:29494400-29532400	Weak transcription	Brain Substantia Nigra	brain
24	chr12:29494600-29532800	Weak transcription	Colonic Mucosa	Colon
25	chr12:29496400-29518000	Weak transcription	Brain Anterior Caudate	brain
26	chr12:29496400-29518000	Weak transcription	Thymus	Thymus
27	chr12:29496400-29532200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:29496600-29517800	Weak transcription	NH-A	brain
29	chr12:29496800-29519000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:29497400-29532400	Weak transcription	Fetal Heart	heart
31	chr12:29497600-29518200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:29498000-29515800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr12:29499000-29532400	Weak transcription	Fetal Brain Female	brain
34	chr12:29499200-29518200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:29499200-29526600	Weak transcription	Stomach Mucosa	stomach
36	chr12:29500200-29533400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr12:29500600-29517800	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:29500600-29518000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:29501000-29518000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:29502000-29518000	Weak transcription	A549	lung
41	chr12:29502200-29518200	Weak transcription	Hela-S3	cervix
42	chr12:29502800-29517800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:29503200-29518200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:29503400-29532200	Weak transcription	HSMMtube	muscle
45	chr12:29504200-29523000	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:29504200-29525800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr12:29505000-29516200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:29505000-29532400	Weak transcription	Brain Angular Gyrus	brain
49	chr12:29505200-29524600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:29506600-29514600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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