Variant report

Variant	rs549239018
Chromosome Location	chr12:83106427-83106428
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	chr12:83104932..83106856-chr12:83113427..83114996,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv899349	chr12:82931646-83114286	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv2755991	chr12:83105631-83248605	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83086600-83122200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:83093200-83122400	Weak transcription	Gastric	stomach
3	chr12:83095400-83106600	Weak transcription	Fetal Intestine Large	intestine
4	chr12:83098000-83121200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:83098800-83106800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:83099200-83122400	Weak transcription	Esophagus	oesophagus
7	chr12:83102400-83138800	Weak transcription	Fetal Kidney	kidney
8	chr12:83102600-83106800	Weak transcription	Brain Germinal Matrix	brain
9	chr12:83102600-83107600	Weak transcription	Brain Angular Gyrus	brain
10	chr12:83102600-83113600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:83102600-83122200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:83102600-83122400	Weak transcription	Lung	lung
13	chr12:83102600-83140600	Weak transcription	Pancreas	Pancrea
14	chr12:83102800-83107000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:83102800-83113200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:83102800-83122400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:83102800-83134000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:83103000-83115400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:83103200-83107000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:83103200-83114600	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:83103200-83124000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:83103800-83106600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr12:83103800-83106800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:83103800-83114600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:83104000-83109600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:83104000-83114800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:83104600-83109600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:83105600-83106800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:83105800-83107000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:83105800-83107000	Strong transcription	Fetal Muscle Leg	muscle
31	chr12:83105800-83107400	Strong transcription	Fetal Stomach	stomach
32	chr12:83105800-83117400	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:83106000-83108000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:83106000-83111600	Weak transcription	Fetal Lung	lung
35	chr12:83106000-83122200	Weak transcription	Fetal Intestine Small	intestine
36	chr12:83106400-83106600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr12:83106400-83106800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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