Variant report

Variant	rs531921029
Chromosome Location	chr12:1701967-1701968
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	chr12:1684651..1686904-chr12:1699807..1702010,2	K562	blood:
2	chr12:1700533..1702051-chr12:1702617..1704531,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171823	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv898586	chr12:1690140-1734365	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv556979	chr12:1700134-1704325	Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3438770	chr12:1701716-1704664	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1699200-1702000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:1699200-1703200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:1699400-1703000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr12:1699400-1703000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr12:1699400-1703000	Flanking Active TSS	Osteobl	bone
6	chr12:1699600-1702000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:1699600-1702000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:1699600-1702000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr12:1699600-1703200	Flanking Active TSS	HMEC	breast
10	chr12:1699800-1702000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:1699800-1703000	Transcr. at gene 5' and 3'	Dnd41	blood
12	chr12:1699800-1703200	Flanking Active TSS	HUVEC	blood vessel
13	chr12:1700000-1703200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:1700200-1702000	Active TSS	Right Atrium	heart
15	chr12:1700200-1702200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:1700400-1703200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:1700400-1703200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr12:1700600-1702600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
19	chr12:1700600-1702600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr12:1700600-1703000	Flanking Active TSS	K562	blood
21	chr12:1700600-1703200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr12:1700600-1704400	Active TSS	Brain Germinal Matrix	brain
23	chr12:1700800-1702000	Flanking Active TSS	HSMM	muscle
24	chr12:1700800-1702200	Flanking Active TSS	Fetal Brain Male	brain
25	chr12:1700800-1702400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr12:1700800-1702800	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr12:1700800-1703000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr12:1700800-1703000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr12:1700800-1703000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr12:1700800-1703000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
31	chr12:1700800-1704600	Active TSS	Ovary	ovary
32	chr12:1701000-1702000	Active TSS	Gastric	stomach
33	chr12:1701000-1702200	Active TSS	Aorta	Aorta
34	chr12:1701000-1703000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:1701000-1704800	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr12:1701200-1702000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr12:1701200-1702000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
38	chr12:1701200-1702000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:1701200-1702000	Active TSS	Brain Hippocampus Middle	brain
40	chr12:1701200-1702000	Active TSS	Colon Smooth Muscle	Colon
41	chr12:1701200-1702000	Active TSS	Thymus	Thymus
42	chr12:1701200-1702000	Active TSS	NHDF-Ad	bronchial
43	chr12:1701200-1702200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:1701200-1702400	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr12:1701200-1702600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:1701200-1703200	Active TSS	Stomach Mucosa	stomach
47	chr12:1701200-1704200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:1701400-1702600	Flanking Active TSS	HepG2	liver
49	chr12:1701400-1703000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
50	chr12:1701400-1703000	Flanking Active TSS	NHEK	skin

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