Variant report

Variant	rs548456500
Chromosome Location	chr12:62717671-62717672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62717168..62719794-chr12:62722542..62725055,3	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv899153	chr12:62716330-62817736	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62686200-62720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:62686400-62736400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:62687200-62718200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:62687400-62720600	Weak transcription	Right Ventricle	heart
5	chr12:62691200-62736400	Weak transcription	Esophagus	oesophagus
6	chr12:62691200-62736600	Weak transcription	Lung	lung
7	chr12:62698400-62741800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:62698600-62720800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:62698600-62725800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:62698600-62745800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:62698800-62728600	Weak transcription	Fetal Heart	heart
12	chr12:62699800-62736400	Weak transcription	Aorta	Aorta
13	chr12:62700000-62719000	Weak transcription	Fetal Brain Female	brain
14	chr12:62700000-62726600	Weak transcription	HSMMtube	muscle
15	chr12:62700000-62736400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:62700000-62736400	Weak transcription	Fetal Stomach	stomach
17	chr12:62700000-62737000	Weak transcription	NHLF	lung
18	chr12:62700000-62757000	Weak transcription	HUVEC	blood vessel
19	chr12:62700200-62717800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:62701600-62730800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:62701600-62738600	Weak transcription	Fetal Brain Male	brain
22	chr12:62701600-62742000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:62701600-62769200	Weak transcription	NHEK	skin
24	chr12:62707400-62717800	Strong transcription	Dnd41	blood
25	chr12:62707600-62717800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:62710000-62744400	Weak transcription	Pancreas	Pancrea
27	chr12:62711000-62718000	Strong transcription	Fetal Thymus	thymus
28	chr12:62711000-62720400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:62712200-62755400	Weak transcription	Small Intestine	intestine
30	chr12:62713000-62732400	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:62713200-62721400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr12:62713200-62722800	Weak transcription	Fetal Intestine Small	intestine
33	chr12:62713200-62736400	Weak transcription	Gastric	stomach
34	chr12:62714200-62717800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:62714200-62736400	Weak transcription	Spleen	Spleen
36	chr12:62714600-62718000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:62714800-62720400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:62715000-62719800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:62715200-62721600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr12:62716200-62720200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:62716200-62736400	Weak transcription	Ovary	ovary
42	chr12:62716600-62722800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:62716800-62718400	Weak transcription	Brain Substantia Nigra	brain
44	chr12:62716800-62718600	Weak transcription	Brain Anterior Caudate	brain
45	chr12:62716800-62719000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:62716800-62723000	Weak transcription	Left Ventricle	heart
47	chr12:62716800-62724400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:62716800-62726000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:62716800-62729800	Weak transcription	Psoas Muscle	Psoas
50	chr12:62716800-62736000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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