Variant report

Variant	rs12128376
Chromosome Location	chr1:224478649-224478650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224475358..224477098-chr1:224478513..224481453,4	K562	blood:
2	chr1:224477255..224480181-chr1:224480396..224482235,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143748	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12117480	1.00[AFR][1000 genomes]
rs12126765	1.00[AFR][1000 genomes]
rs12126815	1.00[AFR][1000 genomes]
rs12133599	1.00[AFR][1000 genomes]
rs45583539	1.00[AFR][1000 genomes]
rs56105022	1.00[AFR][1000 genomes]

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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 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	chr1:224424600-224479600	Weak transcription	Pancreas	Pancrea
2	chr1:224431200-224490400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:224433400-224516200	Weak transcription	Fetal Heart	heart
4	chr1:224437000-224479600	Weak transcription	Right Ventricle	heart
5	chr1:224439800-224501600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:224444600-224479600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:224445400-224482000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:224450800-224480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:224454800-224480000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:224455000-224480200	Weak transcription	Psoas Muscle	Psoas
11	chr1:224457200-224479600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:224461200-224505600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr1:224462200-224479600	Weak transcription	Spleen	Spleen
14	chr1:224465000-224487600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:224465000-224488000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:224465000-224504400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:224465000-224504400	Strong transcription	Liver	Liver
18	chr1:224465000-224505200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:224465000-224505600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:224465200-224487000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:224465400-224505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:224466200-224484200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:224466200-224487800	Strong transcription	NH-A	brain
24	chr1:224466400-224481200	Weak transcription	Small Intestine	intestine
25	chr1:224466400-224505400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr1:224466400-224505400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:224466400-224505600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:224466600-224505600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr1:224466800-224499200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:224467600-224484600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:224468000-224505200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:224468200-224496000	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:224468600-224500000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr1:224469800-224485600	Strong transcription	Fetal Intestine Large	intestine
35	chr1:224469800-224493200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:224470200-224480000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:224471400-224479600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:224471600-224480200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:224472800-224478800	Weak transcription	HSMMtube	muscle
40	chr1:224473000-224496200	Strong transcription	Dnd41	blood
41	chr1:224473200-224480200	Strong transcription	Placenta	Placenta
42	chr1:224473200-224497400	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:224473600-224484000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:224473600-224505400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:224473600-224505400	Strong transcription	Fetal Thymus	thymus
46	chr1:224474000-224488000	Strong transcription	Primary B cells from cord blood	blood
47	chr1:224474200-224480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:224474400-224497200	Weak transcription	Stomach Mucosa	stomach
49	chr1:224474600-224496000	Strong transcription	Adipose Nuclei	Adipose
50	chr1:224474600-224498000	Strong transcription	Primary T cells from cord blood	blood

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