Variant report

Variant	rs57300412
Chromosome Location	chr1:171705182-171705183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171704087..171706245-chr1:171706489..171709352,2	MCF-7	breast:
2	chr1:171704166..171707064-chr1:171814017..171815603,2	K562	blood:
3	chr1:171696346..171698512-chr1:171703920..171706655,2	K562	blood:
4	chr1:171703871..171705878-chr1:171705948..171707617,2	MCF-7	breast:
5	chr1:171703481..171707808-chr1:171708683..171714433,8	K562	blood:
6	chr1:171702790..171705406-chr1:171705984..171707493,2	K562	blood:
7	chr1:171705072..171707837-chr1:171716105..171717838,2	K562	blood:

Variant related genes	Relation type
ENSG00000117533	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10489250	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12021915	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12022661	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12024194	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12024335	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12028096	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12034114	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12036980	0.85[EUR][1000 genomes]
rs12089083	0.99[ASN][1000 genomes]
rs16843227	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421910	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58081399	0.96[ASN][1000 genomes]
rs61413126	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6659266	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6665590	0.96[ASN][1000 genomes]
rs6665614	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6695031	0.83[ASN][1000 genomes]
rs72717895	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72717900	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72719512	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7554793	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171665600-171705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:171665600-171708800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:171666000-171705400	Weak transcription	Pancreas	Pancrea
4	chr1:171668800-171705400	Weak transcription	Right Ventricle	heart
5	chr1:171668800-171708200	Weak transcription	Small Intestine	intestine
6	chr1:171669600-171705400	Weak transcription	Fetal Brain Male	brain
7	chr1:171686600-171710400	Weak transcription	Esophagus	oesophagus
8	chr1:171686600-171710400	Weak transcription	Gastric	stomach
9	chr1:171687600-171708000	Weak transcription	K562	blood
10	chr1:171692400-171705800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:171692400-171708400	Weak transcription	Brain Substantia Nigra	brain
12	chr1:171692400-171710400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:171692400-171710400	Weak transcription	Lung	lung
14	chr1:171692600-171705400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:171692600-171705600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:171692600-171708400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:171692600-171709800	Weak transcription	Stomach Mucosa	stomach
18	chr1:171692600-171710200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:171692800-171705600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:171693200-171705400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:171693200-171709800	Weak transcription	Fetal Kidney	kidney
22	chr1:171694400-171705200	Weak transcription	A549	lung
23	chr1:171694800-171709000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:171695000-171710400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:171695600-171708400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:171696000-171710200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:171696200-171710400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:171696400-171709800	Weak transcription	Psoas Muscle	Psoas
29	chr1:171697000-171705800	Weak transcription	Fetal Brain Female	brain
30	chr1:171697200-171710000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:171697400-171705200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:171697400-171705400	Weak transcription	Fetal Lung	lung
33	chr1:171697400-171705800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:171697400-171706000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:171697600-171705400	Weak transcription	NH-A	brain
36	chr1:171697600-171705600	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:171697600-171705800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr1:171697600-171708200	Weak transcription	Spleen	Spleen
39	chr1:171697600-171708400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:171698000-171705200	Weak transcription	HSMMtube	muscle
41	chr1:171698200-171705200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:171698200-171705400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:171698200-171705400	Weak transcription	NHLF	lung
44	chr1:171698200-171705600	Weak transcription	Brain Anterior Caudate	brain
45	chr1:171699200-171705200	Weak transcription	Fetal Intestine Large	intestine
46	chr1:171699200-171705400	Weak transcription	Aorta	Aorta
47	chr1:171699400-171708200	Weak transcription	Hela-S3	cervix
48	chr1:171699600-171705800	Weak transcription	HUVEC	blood vessel
49	chr1:171699800-171709600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:171701200-171707400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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