Variant report

Variant	rs4443919
Chromosome Location	chr1:62169178-62169179
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	chr1:62169034..62173117-chr1:62207020..62209829,3	MCF-7	breast:
2	chr1:62162809..62165053-chr1:62166918..62169427,2	K562	blood:

Variant related genes	Relation type
ENSG00000132849	Chromatin interaction
ENSG00000271200	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11207807	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11207808	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151756	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151757	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151759	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151762	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151770	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151771	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151773	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151775	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1151776	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12117475	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12124430	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12130241	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12130439	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134102	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12134205	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12134428	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137410	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141280	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12141298	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12144284	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1286624	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1286625	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1286626	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1286628	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1286629	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1286630	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1286634	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1611797	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1620169	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1692131	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1692132	0.86[EUR][1000 genomes]
rs17378384	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1779267	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051135	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051136	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2799626	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662941	0.93[ASN][1000 genomes]
rs6666057	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691402	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6697770	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6698656	0.93[ASN][1000 genomes]
rs72672375	0.87[EUR][1000 genomes]
rs72672390	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72674608	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536565	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538825	0.89[EUR][1000 genomes]
rs7539026	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550631	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62136800-62173800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:62138800-62189600	Weak transcription	Psoas Muscle	Psoas
3	chr1:62140000-62189000	Weak transcription	NHLF	lung
4	chr1:62142800-62172200	Weak transcription	Ovary	ovary
5	chr1:62142800-62188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:62143800-62170200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:62145000-62172200	Weak transcription	Colonic Mucosa	Colon
8	chr1:62146200-62190200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:62147600-62173400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:62152400-62175200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:62154800-62171600	Weak transcription	Fetal Heart	heart
12	chr1:62158600-62189800	Weak transcription	Pancreas	Pancrea
13	chr1:62161200-62180600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:62161800-62179200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:62162600-62177400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:62163200-62172800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:62163400-62181800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:62163800-62174800	Weak transcription	Hela-S3	cervix
19	chr1:62164200-62170000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:62165000-62175800	Weak transcription	Right Atrium	heart
21	chr1:62165000-62189800	Weak transcription	Aorta	Aorta
22	chr1:62165400-62169600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:62165400-62170200	Weak transcription	Spleen	Spleen
24	chr1:62165400-62173800	Weak transcription	Esophagus	oesophagus
25	chr1:62165400-62189400	Weak transcription	Fetal Brain Male	brain
26	chr1:62165400-62189600	Weak transcription	Right Ventricle	heart
27	chr1:62165400-62189800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:62166000-62170200	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:62166200-62172200	Weak transcription	Brain Germinal Matrix	brain
30	chr1:62166200-62173800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:62166200-62174000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:62166400-62169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:62166400-62169800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:62166400-62170000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:62166400-62170200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:62166400-62171000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:62166400-62171200	Weak transcription	Gastric	stomach
38	chr1:62166400-62171200	Weak transcription	K562	blood
39	chr1:62166400-62171800	Weak transcription	Lung	lung
40	chr1:62166400-62171800	Weak transcription	HSMMtube	muscle
41	chr1:62166400-62173200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:62166400-62173400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:62166400-62173600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:62166400-62173800	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:62166400-62173800	Weak transcription	Small Intestine	intestine
46	chr1:62166400-62174600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:62166400-62174600	Weak transcription	Stomach Mucosa	stomach
48	chr1:62166400-62176600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:62166400-62176600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:62166400-62189400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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