Variant report

Variant	rs558707565
Chromosome Location	chr12:64377479-64377480
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	chr12:64373746..64376340-chr12:64376425..64378945,3	MCF-7	breast:
2	chr12:64376417..64378425-chr12:64384160..64386437,2	K562	blood:

Variant related genes	Relation type
ENSG00000196935	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	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2577852	chr12:64376290-64377762	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
2	chr12:64362600-64385600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:64362800-64377600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:64362800-64378800	Weak transcription	Pancreas	Pancrea
5	chr12:64362800-64396000	Weak transcription	Psoas Muscle	Psoas
6	chr12:64364200-64385800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:64365000-64383000	Weak transcription	Stomach Mucosa	stomach
8	chr12:64365800-64378600	Weak transcription	Fetal Intestine Small	intestine
9	chr12:64365800-64379400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:64366400-64383600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:64370800-64384400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:64371800-64385800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:64372000-64383200	Weak transcription	Fetal Kidney	kidney
14	chr12:64372400-64382000	Weak transcription	HSMM	muscle
15	chr12:64372800-64380600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:64373800-64383000	Weak transcription	HMEC	breast
17	chr12:64374400-64377600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:64374400-64377800	Weak transcription	NHEK	skin
19	chr12:64374400-64379000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:64374600-64378600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:64375400-64383200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:64375600-64378800	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:64375600-64383200	Weak transcription	Fetal Lung	lung
24	chr12:64375600-64384600	Weak transcription	Hela-S3	cervix
25	chr12:64375800-64385600	Weak transcription	Adipose Nuclei	Adipose
26	chr12:64376200-64385000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:64376400-64377600	Enhancers	Ovary	ovary
28	chr12:64376800-64377800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:64377000-64377800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:64377000-64379000	Weak transcription	Fetal Heart	heart
31	chr12:64377000-64382000	Weak transcription	Osteobl	bone
32	chr12:64377000-64383200	Weak transcription	Brain Anterior Caudate	brain
33	chr12:64377000-64383400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:64377000-64385400	Weak transcription	Fetal Brain Male	brain
35	chr12:64377200-64377800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:64377200-64377800	Weak transcription	NHDF-Ad	bronchial
37	chr12:64377200-64378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:64377200-64378400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:64377200-64378800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:64377200-64378800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:64377200-64378800	Weak transcription	Fetal Brain Female	brain
42	chr12:64377200-64378800	Weak transcription	NHLF	lung
43	chr12:64377200-64379000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:64377200-64379400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:64377200-64381000	Strong transcription	A549	lung
46	chr12:64377200-64382000	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:64377200-64382000	Weak transcription	Brain Substantia Nigra	brain
48	chr12:64377200-64382200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:64377200-64382200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:64377200-64383000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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