Variant report

Variant	rs374853497
Chromosome Location	chr12:122850086-122850087
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	chr12:122847930..122850385-chr12:123009903..123011569,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111011	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv973131	chr12:122848665-122851457	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3498707	chr12:122849554-122850251	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3498718	chr12:122849554-122850251	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122812800-122850600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:122818400-122852800	Weak transcription	Stomach Mucosa	stomach
3	chr12:122837000-122851200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:122837600-122856000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:122838000-122868000	Weak transcription	Fetal Lung	lung
6	chr12:122838600-122852200	Weak transcription	Small Intestine	intestine
7	chr12:122839400-122850200	Weak transcription	Right Atrium	heart
8	chr12:122839600-122851400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:122839600-122861800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:122839600-122871000	Weak transcription	Fetal Kidney	kidney
11	chr12:122840000-122852000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:122840000-122861800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:122840000-122862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:122840200-122851000	Weak transcription	NH-A	brain
15	chr12:122840200-122857800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:122841000-122872600	Weak transcription	Fetal Brain Male	brain
17	chr12:122843400-122851000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:122844400-122862000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:122844600-122851000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:122844800-122856000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:122846000-122851000	Weak transcription	HMEC	breast
22	chr12:122846000-122851200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:122846000-122851200	Weak transcription	Brain Angular Gyrus	brain
24	chr12:122846000-122851400	Weak transcription	Brain Anterior Caudate	brain
25	chr12:122846000-122854000	Weak transcription	GM12878-XiMat	blood
26	chr12:122846000-122865600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:122846000-122883800	Weak transcription	Aorta	Aorta
28	chr12:122846200-122851000	Weak transcription	K562	blood
29	chr12:122846200-122851000	Weak transcription	Osteobl	bone
30	chr12:122846200-122851200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:122846200-122851400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:122846200-122856000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr12:122846200-122856000	Weak transcription	Right Ventricle	heart
34	chr12:122846200-122859400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:122846200-122860800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:122846200-122861600	Weak transcription	Thymus	Thymus
37	chr12:122846200-122862000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:122846400-122850800	Weak transcription	Hela-S3	cervix
39	chr12:122846400-122851000	Weak transcription	HepG2	liver
40	chr12:122846400-122851000	Weak transcription	NHEK	skin
41	chr12:122846400-122851200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:122846400-122851200	Weak transcription	HSMM	muscle
43	chr12:122846400-122852400	Weak transcription	Ovary	ovary
44	chr12:122846400-122853800	Weak transcription	Gastric	stomach
45	chr12:122846400-122855600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:122846400-122856200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:122846400-122860400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:122846600-122861400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:122847800-122851200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:122847800-122853600	Enhancers	Skeletal Muscle Female	skeletal muscle

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