Variant report

Variant	rs573570749
Chromosome Location	chr12:122097446-122097447
allele	-/CTTTTT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122096588..122098372-chr12:122100126..122101956,3	K562	blood:
2	chr12:122017165..122019200-chr12:122095451..122098021,2	K562	blood:
3	chr12:122027393..122030554-chr12:122096277..122098532,3	K562	blood:
4	chr12:122062091..122065392-chr12:122094028..122098514,5	K562	blood:

Variant related genes	Relation type
ENSG00000256742	Chromatin interaction
ENSG00000182500	Chromatin interaction
ENSG00000089094	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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	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
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122081800-122101400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:122091000-122110000	Weak transcription	Pancreas	Pancrea
3	chr12:122091200-122109600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:122095000-122097600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:122095200-122097800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:122095400-122102000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:122096000-122097800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr12:122096200-122098000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr12:122096400-122097600	Flanking Active TSS	K562	blood
10	chr12:122096400-122097800	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr12:122096400-122097800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:122096400-122097800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:122096400-122097800	Enhancers	Stomach Mucosa	stomach
14	chr12:122096400-122098000	Flanking Active TSS	Dnd41	blood
15	chr12:122096600-122097600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:122096600-122097600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr12:122096600-122097600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:122096600-122097600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr12:122096600-122097600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr12:122096600-122097800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:122096600-122097800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr12:122096600-122097800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr12:122096600-122097800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr12:122096600-122097800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:122096600-122097800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr12:122096600-122097800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:122096600-122098000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr12:122096600-122098200	Enhancers	Spleen	Spleen
29	chr12:122097000-122097800	Enhancers	Lung	lung
30	chr12:122097000-122101400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:122097000-122102000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:122097200-122097600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr12:122097200-122097600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:122097200-122097600	Enhancers	Fetal Intestine Small	intestine
35	chr12:122097200-122097800	Enhancers	HUVEC	blood vessel
36	chr12:122097200-122098200	Enhancers	Primary B cells from peripheral blood	blood
37	chr12:122097200-122098200	Enhancers	Placenta	Placenta
38	chr12:122097200-122101400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:122097200-122101600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:122097200-122102200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:122097200-122109800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:122097400-122097600	Enhancers	Fetal Stomach	stomach
43	chr12:122097400-122097600	Enhancers	Thymus	Thymus
44	chr12:122097400-122097800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr12:122097400-122097800	Enhancers	Duodenum Mucosa	Duodenum
46	chr12:122097400-122098200	Enhancers	GM12878-XiMat	blood
47	chr12:122097400-122098200	Enhancers	HepG2	liver
48	chr12:122097400-122098400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:122097400-122098600	Enhancers	Primary B cells from cord blood	blood
50	chr12:122097400-122098800	Enhancers	Primary monocytes fromperipheralblood	blood

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