Variant report

Variant	rs528019122
Chromosome Location	chr12:32153992-32153993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32146985..32148655-chr12:32151850..32154209,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3430326	chr12:32142734-32216569	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv3410287	chr12:32142734-32219420	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv521398	chr12:32148915-32156716	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32134800-32155400	Weak transcription	NHDF-Ad	bronchial
2	chr12:32135000-32156000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:32135000-32156400	Weak transcription	Gastric	stomach
4	chr12:32136000-32155000	Weak transcription	HSMMtube	muscle
5	chr12:32136200-32155400	Weak transcription	Osteobl	bone
6	chr12:32137200-32158600	Weak transcription	HUVEC	blood vessel
7	chr12:32139200-32154400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:32139800-32154200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:32140200-32156200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:32140800-32156600	Strong transcription	Thymus	Thymus
11	chr12:32141400-32154200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:32141400-32154800	Strong transcription	Fetal Intestine Large	intestine
13	chr12:32141400-32154800	Strong transcription	Fetal Intestine Small	intestine
14	chr12:32141400-32156200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:32141800-32154200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:32141800-32155000	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:32142200-32155800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:32142600-32155000	Strong transcription	Liver	Liver
19	chr12:32143000-32154800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr12:32143000-32154800	Strong transcription	Adipose Nuclei	Adipose
21	chr12:32143200-32154400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:32143200-32154400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:32143200-32156200	Strong transcription	Primary T cells from cord blood	blood
24	chr12:32143800-32154800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:32143800-32158400	Weak transcription	Fetal Heart	heart
26	chr12:32144000-32154400	Strong transcription	Dnd41	blood
27	chr12:32144000-32155600	Weak transcription	Small Intestine	intestine
28	chr12:32144200-32154800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr12:32144400-32155800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:32144600-32154400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:32145000-32154800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:32145400-32154800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:32145600-32154400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:32145800-32154200	Strong transcription	Fetal Stomach	stomach
35	chr12:32145800-32154800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:32145800-32154800	Strong transcription	Left Ventricle	heart
37	chr12:32145800-32155600	Weak transcription	Stomach Mucosa	stomach
38	chr12:32146600-32154800	Strong transcription	Ovary	ovary
39	chr12:32146800-32154400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:32146800-32155000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:32147200-32154800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:32147200-32154800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:32147200-32154800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr12:32147200-32154800	Strong transcription	Fetal Muscle Leg	muscle
45	chr12:32147200-32154800	Strong transcription	Spleen	Spleen
46	chr12:32148000-32154200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr12:32148000-32154800	Strong transcription	Placenta	Placenta
48	chr12:32148200-32154400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr12:32148600-32154800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:32148600-32155000	Strong transcription	Brain Hippocampus Middle	brain

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