Variant report

Variant	rs185706112
Chromosome Location	chr12:64376422-64376423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64376417..64378425-chr12:64384160..64386437,2	K562	blood:

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	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	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
3	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:58 , 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	chr12:64364200-64376800	Weak transcription	HSMMtube	muscle
7	chr12:64364200-64385800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:64365000-64383000	Weak transcription	Stomach Mucosa	stomach
9	chr12:64365800-64378600	Weak transcription	Fetal Intestine Small	intestine
10	chr12:64365800-64379400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:64366400-64383600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:64370800-64384400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:64371800-64385800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:64372000-64383200	Weak transcription	Fetal Kidney	kidney
15	chr12:64372400-64376600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:64372400-64382000	Weak transcription	HSMM	muscle
17	chr12:64372800-64380600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:64373600-64376600	Weak transcription	Osteobl	bone
19	chr12:64373800-64383000	Weak transcription	HMEC	breast
20	chr12:64374000-64376800	Weak transcription	NH-A	brain
21	chr12:64374000-64377000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:64374000-64377200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:64374400-64377600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:64374400-64377800	Weak transcription	NHEK	skin
25	chr12:64374400-64379000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:64374600-64378600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:64375000-64377200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:64375200-64377000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:64375200-64377200	Enhancers	NHLF	lung
30	chr12:64375400-64377000	Enhancers	Brain Anterior Caudate	brain
31	chr12:64375400-64377200	Enhancers	Colon Smooth Muscle	Colon
32	chr12:64375400-64377200	Enhancers	Fetal Brain Female	brain
33	chr12:64375400-64383200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:64375600-64376800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:64375600-64378800	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:64375600-64383200	Weak transcription	Fetal Lung	lung
37	chr12:64375600-64384600	Weak transcription	Hela-S3	cervix
38	chr12:64375800-64377200	Enhancers	NHDF-Ad	bronchial
39	chr12:64375800-64385600	Weak transcription	Adipose Nuclei	Adipose
40	chr12:64376000-64377200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:64376000-64377200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:64376200-64376800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:64376200-64377000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr12:64376200-64377200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:64376200-64377200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:64376200-64377200	Enhancers	Brain Hippocampus Middle	brain
47	chr12:64376200-64377200	Enhancers	Brain Substantia Nigra	brain
48	chr12:64376200-64385000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:64376400-64377000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr12:64376400-64377000	Enhancers	Fetal Brain Male	brain

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