Variant report

Variant	rs542564516
Chromosome Location	chr12:117354288-117354289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117251106..117253026-chr12:117352953..117355547,2	MCF-7	breast:
2	chr12:117174040..117175921-chr12:117353043..117354833,2	MCF-7	breast:
3	chr12:117318715..117321135-chr12:117352737..117355322,2	MCF-7	breast:
4	chr12:117172130..117177322-chr12:117351344..117357214,6	MCF-7	breast:
5	chr12:117353167..117354718-chr12:117357426..117359453,2	MCF-7	breast:
6	chr12:117348859..117352842-chr12:117353908..117358678,6	K562	blood:

Variant related genes	Relation type
ENSG00000135119	Chromatin interaction
ENSG00000111412	Chromatin interaction
ENSG00000135116	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1046811	chr12:117353904-117396230	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	esv1798657	chr12:117354067-117392259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117349400-117354400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:117349600-117354400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:117349600-117363600	Weak transcription	Brain Anterior Caudate	brain
4	chr12:117349600-117364000	Weak transcription	Brain Angular Gyrus	brain
5	chr12:117349600-117365800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:117349800-117354400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:117349800-117354400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:117349800-117356000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:117349800-117362200	Weak transcription	Thymus	Thymus
10	chr12:117349800-117362400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:117349800-117363600	Weak transcription	Brain Substantia Nigra	brain
12	chr12:117349800-117363800	Weak transcription	Aorta	Aorta
13	chr12:117349800-117364000	Weak transcription	Adipose Nuclei	Adipose
14	chr12:117349800-117366000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:117349800-117366000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:117349800-117366000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:117349800-117371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:117350000-117356200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:117350000-117356400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:117350000-117356600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:117350000-117357000	Weak transcription	HUVEC	blood vessel
22	chr12:117350000-117358600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:117350000-117360000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:117350000-117363000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:117350000-117363800	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:117350000-117365400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:117350000-117366000	Weak transcription	Fetal Lung	lung
28	chr12:117350200-117354400	Weak transcription	Fetal Intestine Large	intestine
29	chr12:117350200-117354400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:117350200-117356400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:117350200-117356400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:117350200-117357000	Weak transcription	Fetal Thymus	thymus
33	chr12:117350200-117358600	Weak transcription	Psoas Muscle	Psoas
34	chr12:117350200-117359800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:117350200-117362200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:117350200-117366000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:117350200-117366000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr12:117350200-117366800	Weak transcription	Spleen	Spleen
39	chr12:117350200-117367800	Weak transcription	Brain Germinal Matrix	brain
40	chr12:117350200-117371000	Weak transcription	Right Ventricle	heart
41	chr12:117350400-117356600	Weak transcription	Primary T cells from cord blood	blood
42	chr12:117350600-117370600	Weak transcription	Fetal Brain Male	brain
43	chr12:117351000-117354400	Weak transcription	Small Intestine	intestine
44	chr12:117351200-117354400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:117351200-117356600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:117351200-117357000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:117351200-117357000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:117351200-117363800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:117351800-117354400	Weak transcription	Ovary	ovary
50	chr12:117352200-117355400	Enhancers	Placenta Amnion	Placenta Amnion

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