Variant report

Variant	rs530993427
Chromosome Location	chr12:49812252-49812253
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49809234..49812478-chr12:49813344..49815493,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49764200-49840200	Weak transcription	Fetal Lung	lung
2	chr12:49764400-49822200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:49766600-49822200	Weak transcription	NH-A	brain
4	chr12:49768400-49819200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:49783600-49816400	Weak transcription	Left Ventricle	heart
6	chr12:49788000-49822600	Weak transcription	HUVEC	blood vessel
7	chr12:49791400-49819200	Weak transcription	Osteobl	bone
8	chr12:49791800-49817000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:49792800-49812600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:49792800-49819200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:49792800-49822000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:49793000-49818600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:49794400-49812400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:49798000-49812800	Weak transcription	Fetal Intestine Small	intestine
15	chr12:49798000-49820800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:49798400-49856000	Weak transcription	Primary T cells from cord blood	blood
17	chr12:49798600-49812400	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:49798600-49818400	Weak transcription	Fetal Stomach	stomach
19	chr12:49798600-49821800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:49798600-49822600	Weak transcription	Fetal Thymus	thymus
21	chr12:49798600-49840000	Weak transcription	Hela-S3	cervix
22	chr12:49799400-49819000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:49803000-49812400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:49807200-49817600	Enhancers	HepG2	liver
25	chr12:49807400-49818800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:49807800-49812800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:49807800-49812800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr12:49807800-49819600	Weak transcription	HMEC	breast
29	chr12:49807800-49822200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:49807800-49822600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:49807800-49822600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:49808000-49812400	Weak transcription	GM12878-XiMat	blood
33	chr12:49808000-49812800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:49808000-49812800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:49808200-49822400	Weak transcription	NHEK	skin
36	chr12:49808600-49814600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:49809200-49816400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:49809600-49813000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:49809800-49818400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:49810200-49814600	Weak transcription	Small Intestine	intestine
41	chr12:49810200-49814600	Weak transcription	K562	blood
42	chr12:49810200-49819800	Weak transcription	Dnd41	blood
43	chr12:49810400-49813600	Enhancers	A549	lung
44	chr12:49810800-49831400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:49811000-49812600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:49811600-49814400	Weak transcription	Fetal Intestine Large	intestine
47	chr12:49812200-49822600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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