Variant report

Variant	rs564329868
Chromosome Location	chr12:58350912-58350913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:58334482..58336747-chr12:58350130..58351915,2	MCF-7	breast:
2	chr12:58331126..58336809-chr12:58347198..58351955,8	K562	blood:
3	chr12:58339593..58341366-chr12:58350590..58353556,2	K562	blood:

Variant related genes	Relation type
ENSG00000166896	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases
2	nsv523853	chr12:58350631-58386722	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58336000-58351000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:58336000-58351000	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:58336000-58351200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:58336000-58351200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:58336000-58351200	Weak transcription	Spleen	Spleen
6	chr12:58336000-58353000	Weak transcription	Small Intestine	intestine
7	chr12:58336200-58351000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:58336200-58351000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:58336200-58351000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:58336200-58351200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:58336200-58351200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:58336200-58351200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:58336200-58351200	Weak transcription	Fetal Intestine Small	intestine
14	chr12:58336200-58351200	Weak transcription	Placenta	Placenta
15	chr12:58336200-58351400	Weak transcription	Brain Anterior Caudate	brain
16	chr12:58336200-58351400	Weak transcription	Fetal Lung	lung
17	chr12:58336200-58351600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:58336200-58351600	Weak transcription	HUVEC	blood vessel
19	chr12:58336200-58353000	Weak transcription	Stomach Mucosa	stomach
20	chr12:58336200-58353400	Weak transcription	Fetal Kidney	kidney
21	chr12:58336200-58353600	Weak transcription	Brain Substantia Nigra	brain
22	chr12:58336200-58353600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr12:58336200-58353800	Weak transcription	Brain Angular Gyrus	brain
24	chr12:58336200-58353800	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:58336200-58354000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:58336200-58354000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:58336200-58354000	Weak transcription	Psoas Muscle	Psoas
28	chr12:58336200-58356200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:58336200-58359600	Weak transcription	A549	lung
30	chr12:58336400-58351000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:58336400-58351000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:58336400-58351200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:58336400-58359600	Weak transcription	HMEC	breast
34	chr12:58336800-58351200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:58336800-58353000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:58337200-58351000	Weak transcription	Colonic Mucosa	Colon
37	chr12:58337200-58358400	Weak transcription	HepG2	liver
38	chr12:58339600-58352200	Strong transcription	Primary T cells from cord blood	blood
39	chr12:58340000-58351600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr12:58340200-58351400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:58340600-58351200	Strong transcription	K562	blood
42	chr12:58340600-58351800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr12:58340600-58352200	Strong transcription	Fetal Thymus	thymus
44	chr12:58340800-58351200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr12:58341000-58352200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:58342800-58352400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:58343200-58352600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr12:58343600-58351800	Weak transcription	NHEK	skin
49	chr12:58344600-58352000	Strong transcription	Liver	Liver
50	chr12:58344800-58352000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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