Variant report

Variant	rs530093575
Chromosome Location	chr12:50972458-50972459
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50924992..50927845-chr12:50972241..50975233,2	MCF-7	breast:
2	chr12:50972299..50974620-chr12:51011997..51014458,2	MCF-7	breast:
3	chr12:50972078..50973686-chr12:51157713..51159257,2	K562	blood:
4	chr12:50970224..50973931-chr12:50975252..50979734,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123268	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	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3480918	chr12:50971785-50977483	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv558842	chr12:50972136-50975386	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50949400-50973600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:50959000-50976800	Weak transcription	Primary T cells from cord blood	blood
3	chr12:50962400-50973600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:50962400-50983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:50966200-50973400	Weak transcription	Primary B cells from cord blood	blood
6	chr12:50966800-50975600	Weak transcription	HSMM	muscle
7	chr12:50967200-50978400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:50967200-50983000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:50967400-50973600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:50967400-50991200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:50967400-50991200	Weak transcription	Aorta	Aorta
12	chr12:50967600-50972600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:50967600-50972600	Weak transcription	Fetal Heart	heart
14	chr12:50967600-50972800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr12:50967600-50973600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:50968200-50973600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:50968400-50976400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:50968600-50972800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:50968600-50973600	Weak transcription	Gastric	stomach
20	chr12:50968600-50973600	Weak transcription	NH-A	brain
21	chr12:50968600-50983000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:50968800-50972800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:50968800-50974600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:50968800-50974800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:50968800-50982200	Weak transcription	Fetal Brain Female	brain
26	chr12:50968800-50989000	Weak transcription	Fetal Intestine Small	intestine
27	chr12:50968800-50997400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:50969000-50973600	Weak transcription	Stomach Mucosa	stomach
29	chr12:50969000-50983200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:50969000-50983400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:50969200-50973000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:50969200-50973000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:50969200-50973000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:50969200-50973600	Weak transcription	Small Intestine	intestine
35	chr12:50969200-50973600	Weak transcription	NHDF-Ad	bronchial
36	chr12:50969200-50973600	Weak transcription	Osteobl	bone
37	chr12:50969200-50973800	Weak transcription	Brain Germinal Matrix	brain
38	chr12:50969200-50974400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:50969400-50972600	Weak transcription	Fetal Brain Male	brain
40	chr12:50969400-50972600	Weak transcription	A549	lung
41	chr12:50969400-50973000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:50969400-50973600	Weak transcription	Esophagus	oesophagus
43	chr12:50969400-50973600	Weak transcription	Psoas Muscle	Psoas
44	chr12:50969400-50973600	Weak transcription	Spleen	Spleen
45	chr12:50969400-50973600	Weak transcription	Hela-S3	cervix
46	chr12:50969400-50974400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:50969400-50974600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:50969400-50974800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:50969400-50975400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:50969400-50975400	Weak transcription	HMEC	breast

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