Variant report

Variant	rs77757622
Chromosome Location	chr12:50568884-50568885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50504882..50505728-chr12:50568694..50569880,4	MCF-7	breast:
2	chr12:50468576..50469894-chr12:50568295..50570304,9	MCF-7	breast:
3	chr12:50560194..50561915-chr12:50567388..50569961,2	MCF-7	breast:
4	chr12:50468630..50469759-chr12:50568675..50570193,14	K562	blood:

Variant related genes	Relation type
ENSG00000139624	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv3449342	chr12:50568788-50569219	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv53354	chr12:50568840-50569146	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3331792	chr12:50568848-50569089	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50561200-50569800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:50561200-50570600	Weak transcription	Aorta	Aorta
3	chr12:50561600-50570600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:50561600-50570800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:50561600-50570800	Weak transcription	Esophagus	oesophagus
6	chr12:50561600-50570800	Weak transcription	Gastric	stomach
7	chr12:50561600-50570800	Weak transcription	Pancreas	Pancrea
8	chr12:50561600-50571200	Weak transcription	Lung	lung
9	chr12:50561600-50571200	Weak transcription	Right Ventricle	heart
10	chr12:50561600-50575200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:50561800-50569000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:50561800-50569200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:50561800-50569200	Weak transcription	Brain Anterior Caudate	brain
14	chr12:50561800-50569200	Weak transcription	Brain Substantia Nigra	brain
15	chr12:50561800-50569600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:50561800-50569600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:50561800-50569800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:50561800-50569800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:50561800-50569800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:50561800-50569800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:50561800-50569800	Weak transcription	NHLF	lung
22	chr12:50561800-50570000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:50561800-50570000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:50561800-50570000	Weak transcription	Psoas Muscle	Psoas
25	chr12:50561800-50570000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:50561800-50570400	Weak transcription	Fetal Brain Female	brain
27	chr12:50561800-50570600	Weak transcription	Primary T cells from cord blood	blood
28	chr12:50561800-50570600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:50561800-50570800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:50561800-50570800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:50561800-50570800	Weak transcription	Brain Angular Gyrus	brain
32	chr12:50561800-50570800	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:50561800-50570800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:50561800-50570800	Weak transcription	Ovary	ovary
35	chr12:50561800-50571000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:50561800-50571000	Weak transcription	Colonic Mucosa	Colon
37	chr12:50561800-50571000	Weak transcription	Spleen	Spleen
38	chr12:50561800-50571200	Weak transcription	Brain Germinal Matrix	brain
39	chr12:50561800-50571200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:50561800-50571200	Weak transcription	Left Ventricle	heart
41	chr12:50561800-50571200	Weak transcription	Thymus	Thymus
42	chr12:50561800-50573000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr12:50561800-50574800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:50561800-50574800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:50561800-50575000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:50561800-50582600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:50561800-50582600	Weak transcription	Stomach Mucosa	stomach
48	chr12:50562000-50569200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:50562000-50569200	Weak transcription	HSMM	muscle
50	chr12:50562000-50569600	Weak transcription	Primary T cells fromperipheralblood	blood

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