Variant report

Variant	rs551803248
Chromosome Location	chr12:122906113-122906114
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122905165..122906940-chr12:122983858..122986344,2	MCF-7	breast:
2	chr12:122879571..122888507-chr12:122899670..122909196,27	K562	blood:
3	chr12:122904832..122906414-chr12:122939257..122941013,2	MCF-7	breast:
4	chr12:122882564..122887396-chr12:122904302..122908331,13	MCF-7	breast:
5	chr12:122905580..122908414-chr12:122982278..122985321,3	K562	blood:
6	chr12:122884770..122885313-chr12:122906068..122906999,2	MCF-7	breast:
7	chr12:122906075..122908078-chr12:122966404..122968368,2	MCF-7	breast:
8	chr12:122905706..122906639-chr8:59465457..59466042,2	Hela-S3	cervix:
9	chr12:122904060..122906537-chr12:122948950..122950891,2	MCF-7	breast:
10	chr12:122905434..122908389-chr12:122983902..122986310,2	K562	blood:
11	chr12:122903628..122906130-chr12:122965497..122967386,2	K562	blood:
12	chr12:122877588..122886723-chr12:122904086..122910536,22	K562	blood:
13	chr12:122878851..122886809-chr12:122904517..122908613,16	MCF-7	breast:
14	chr12:122905004..122910047-chr12:122982684..122986625,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000033030	Chromatin interaction
ENSG00000257097	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000137575	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	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	esv3406745	chr12:122905624-122908172	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122887200-122906200	Weak transcription	Lung	lung
2	chr12:122904400-122907600	Active TSS	HSMMtube	muscle
3	chr12:122904800-122906400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr12:122904800-122906400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:122905000-122906200	Flanking Active TSS	Liver	Liver
6	chr12:122905000-122906200	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr12:122905000-122907800	Active TSS	Esophagus	oesophagus
8	chr12:122905200-122906200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:122905400-122906200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr12:122905400-122906200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:122905400-122906200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:122905400-122906200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr12:122905400-122906200	Flanking Active TSS	Dnd41	blood
14	chr12:122905400-122906200	Flanking Active TSS	HUVEC	blood vessel
15	chr12:122905400-122906400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr12:122905400-122906400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr12:122905400-122906400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:122905400-122906400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:122905400-122908200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:122905600-122906200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:122905600-122906200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr12:122905600-122906200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr12:122905600-122906200	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr12:122905600-122906200	Flanking Active TSS	Fetal Heart	heart
25	chr12:122905600-122906200	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr12:122905600-122906200	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr12:122905600-122906200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr12:122905600-122906200	Flanking Active TSS	K562	blood
29	chr12:122905600-122906400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr12:122905600-122906400	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr12:122905600-122906400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:122905600-122906400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr12:122905600-122906400	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr12:122905600-122906400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr12:122905600-122906400	Flanking Active TSS	Thymus	Thymus
36	chr12:122905600-122906600	Active TSS	Right Atrium	heart
37	chr12:122905600-122907000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr12:122905600-122907400	Active TSS	GM12878-XiMat	blood
39	chr12:122905600-122907600	Active TSS	NHLF	lung
40	chr12:122905600-122908200	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr12:122905600-122908200	Active TSS	Right Ventricle	heart
42	chr12:122905600-122908400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr12:122905600-122908400	Active TSS	Left Ventricle	heart
44	chr12:122905800-122906200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr12:122905800-122906200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr12:122905800-122906200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:122905800-122906200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr12:122905800-122906200	Flanking Active TSS	Fetal Lung	lung
49	chr12:122905800-122906200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr12:122905800-122906400	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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