Variant report

Variant	rs12044558
Chromosome Location	chr1:220270160-220270161
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220261171..220264758-chr1:220266195..220270505,9	MCF-7	breast:
2	chr1:220267849..220270969-chr1:220271218..220274109,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162813	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2004080	0.83[EUR][1000 genomes]
rs2577133	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2647466	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2789788	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2789789	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 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	chr1:220268200-220270600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:220268200-220275400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:220268400-220273200	Weak transcription	NH-A	brain
4	chr1:220268400-220274800	Weak transcription	Psoas Muscle	Psoas
5	chr1:220268400-220277400	Weak transcription	Aorta	Aorta
6	chr1:220268400-220280400	Weak transcription	Fetal Kidney	kidney
7	chr1:220268400-220283200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:220268400-220287400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:220268400-220293400	Weak transcription	Stomach Mucosa	stomach
10	chr1:220268400-220330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:220268600-220270600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:220268600-220270800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:220268600-220271000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:220268600-220274800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:220268600-220274800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:220268600-220274800	Weak transcription	Right Ventricle	heart
17	chr1:220268600-220274800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:220268600-220282600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:220268600-220293800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:220268800-220277400	Weak transcription	Colonic Mucosa	Colon
21	chr1:220269000-220271200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:220269000-220271200	Weak transcription	HMEC	breast
23	chr1:220269000-220272800	Weak transcription	Primary B cells from cord blood	blood
24	chr1:220269000-220275600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:220269200-220270400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:220269200-220270400	Weak transcription	Fetal Stomach	stomach
27	chr1:220269200-220270400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:220269200-220270600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:220269200-220270600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:220269200-220270600	Weak transcription	Lung	lung
31	chr1:220269200-220270600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:220269200-220271000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:220269200-220271000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:220269200-220271000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:220269200-220271000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:220269200-220271000	Weak transcription	Brain Angular Gyrus	brain
37	chr1:220269200-220271000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:220269200-220271000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:220269200-220271000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr1:220269200-220271400	Weak transcription	HUVEC	blood vessel
41	chr1:220269200-220271600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:220269200-220271600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:220269200-220273200	Weak transcription	Fetal Lung	lung
44	chr1:220269200-220273600	Strong transcription	K562	blood
45	chr1:220269200-220274000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:220269200-220274600	Weak transcription	Left Ventricle	heart
47	chr1:220269200-220274800	Weak transcription	Ovary	ovary
48	chr1:220269200-220275200	Weak transcription	Brain Substantia Nigra	brain
49	chr1:220269200-220275200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:220269200-220275600	Weak transcription	Brain Cingulate Gyrus	brain

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