Variant report

Variant	rs537923219
Chromosome Location	chr12:49727045-49727046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49690361..49691961-chr12:49725710..49727427,2	MCF-7	breast:
2	chr12:49724830..49727128-chr12:49748718..49750720,2	MCF-7	breast:
3	chr12:49680691..49694205-chr12:49725987..49738512,25	K562	blood:
4	chr12:49726361..49727184-chr12:49741012..49741811,2	K562	blood:
5	chr12:49726070..49728754-chr12:49729345..49731828,3	MCF-7	breast:
6	chr12:49725445..49728074-chr12:49906723..49908928,2	MCF-7	breast:
7	chr12:49724272..49727239-chr12:49903612..49905113,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135406	Chromatin interaction
ENSG00000186897	Chromatin interaction
ENSG00000123352	Chromatin interaction

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	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv826368	chr12:49726310-49731802	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49718000-49730200	Weak transcription	Gastric	stomach
2	chr12:49721600-49729600	Weak transcription	HSMM	muscle
3	chr12:49724600-49728800	Weak transcription	GM12878-XiMat	blood
4	chr12:49725000-49728600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:49725000-49728600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:49725400-49728600	Weak transcription	HSMMtube	muscle
7	chr12:49725400-49730400	Weak transcription	Dnd41	blood
8	chr12:49725600-49728000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:49725800-49730400	Weak transcription	Hela-S3	cervix
10	chr12:49726000-49727400	Bivalent Enhancer	Fetal Intestine Large	intestine
11	chr12:49726200-49727400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr12:49726400-49727200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:49726400-49727200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr12:49726400-49727200	Bivalent Enhancer	Fetal Brain Male	brain
15	chr12:49726400-49727400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:49726400-49727400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr12:49726400-49727400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:49726400-49730400	Weak transcription	A549	lung
19	chr12:49726600-49727200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr12:49726600-49727200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr12:49726600-49727200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:49726600-49727200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:49726600-49727200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:49726600-49727200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:49726600-49727200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:49726600-49727200	Bivalent Enhancer	Placenta	Placenta
27	chr12:49726600-49727400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr12:49726600-49727400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr12:49726600-49727400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
30	chr12:49726600-49727400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr12:49726600-49727400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr12:49726600-49727400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:49726600-49727600	Bivalent Enhancer	Spleen	Spleen
34	chr12:49726800-49727200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
35	chr12:49726800-49727200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:49726800-49727200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:49726800-49727200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:49726800-49727200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:49726800-49727200	Enhancers	Liver	Liver
40	chr12:49726800-49727200	Bivalent Enhancer	Brain Germinal Matrix	brain
41	chr12:49726800-49727200	Bivalent Enhancer	Fetal Intestine Small	intestine
42	chr12:49726800-49727200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr12:49726800-49727200	Enhancers	Lung	lung
44	chr12:49726800-49727200	Flanking Active TSS	Right Ventricle	heart
45	chr12:49726800-49727200	Bivalent/Poised TSS	Thymus	Thymus
46	chr12:49726800-49727200	Flanking Active TSS	NHEK	skin
47	chr12:49726800-49727400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
48	chr12:49726800-49727400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
49	chr12:49726800-49727400	Bivalent Enhancer	Brain Hippocampus Middle	brain
50	chr12:49727000-49727200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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