Variant report

Variant	rs575221056
Chromosome Location	chr12:104192171-104192172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:104192024-104192267	GM12891	blood:	n/a	n/a
2	STAT3	chr12:104192033-104192221	MCF10A-Er-Src	breast:	n/a	n/a
3	SPI1	chr12:104192073-104192272	GM12891	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104187183..104188924-chr12:104191126..104192831,2	K562	blood:
2	chr12:104190724..104195360-chr12:104196501..104199658,6	MCF-7	breast:
3	chr12:104190889..104195812-chr12:104232079..104236624,5	MCF-7	breast:
4	chr12:104183709..104186598-chr12:104189875..104192288,3	K562	blood:
5	chr12:104186543..104188821-chr12:104190748..104192615,2	K562	blood:
6	chr12:104183990..104193430-chr12:104193641..104204611,16	MCF-7	breast:
7	chr12:104192165..104193945-chr12:104199242..104201108,2	K562	blood:
8	chr12:104192025..104195229-chr12:104233820..104236988,3	K562	blood:

No data

Variant related genes	Relation type
NT5DC3	TF binding region
ENSG00000257327	Chromatin interaction
ENSG00000111696	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899480	chr12:104092996-104211440	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899481	chr12:104092996-104213731	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899482	chr12:104092996-104218956	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv899483	chr12:104117462-104218956	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv899487	chr12:104118587-104218956	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv899489	chr12:104144835-104218956	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv899490	chr12:104149022-104218956	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
10	nsv52873	chr12:104191266-104193582	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104163600-104204200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:104165800-104193400	Weak transcription	Fetal Lung	lung
3	chr12:104167200-104199800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:104169000-104197800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:104171200-104193600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:104171600-104194000	Weak transcription	Brain Substantia Nigra	brain
7	chr12:104171800-104216000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:104173800-104208800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:104174000-104194200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:104177800-104207600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:104178600-104193400	Weak transcription	Left Ventricle	heart
12	chr12:104178800-104194000	Weak transcription	Brain Angular Gyrus	brain
13	chr12:104178800-104194200	Weak transcription	Esophagus	oesophagus
14	chr12:104179000-104193200	Weak transcription	Spleen	Spleen
15	chr12:104179000-104193600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:104179400-104193800	Weak transcription	Fetal Kidney	kidney
17	chr12:104179800-104192800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:104179800-104193800	Weak transcription	NHDF-Ad	bronchial
19	chr12:104183600-104192800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:104183800-104193600	Weak transcription	Stomach Mucosa	stomach
21	chr12:104184800-104192600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:104184800-104193400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:104185200-104192400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:104185200-104192600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:104185400-104192800	Strong transcription	HSMM	muscle
26	chr12:104185400-104193600	Strong transcription	Primary T cells from cord blood	blood
27	chr12:104185400-104193800	Strong transcription	K562	blood
28	chr12:104185800-104192800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:104185800-104198800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:104186000-104192800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:104186400-104192800	Strong transcription	HMEC	breast
32	chr12:104186600-104192600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:104186600-104194400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:104187400-104206800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:104187600-104193200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:104187600-104193200	Weak transcription	Pancreas	Pancrea
37	chr12:104187600-104193600	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:104187600-104193600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:104187800-104193600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:104187800-104193800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:104187800-104198200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:104187800-104212600	Weak transcription	GM12878-XiMat	blood
43	chr12:104188200-104193200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:104188400-104192400	Strong transcription	NH-A	brain
45	chr12:104188600-104193000	Strong transcription	HepG2	liver
46	chr12:104188600-104195600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr12:104188800-104192800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:104188800-104192800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:104188800-104193200	Weak transcription	Colonic Mucosa	Colon
50	chr12:104188800-104193200	Weak transcription	Lung	lung

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