Variant report

Variant	rs2357583
Chromosome Location	chr1:210539213-210539214
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	chr1:210500741..210504188-chr1:210538705..210542950,7	MCF-7	breast:
2	chr1:210501728..210505253-chr1:210538345..210542934,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054392	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10489388	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12140650	0.83[ASN][1000 genomes]
rs12729428	1.00[ASN][1000 genomes]
rs17016026	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17759021	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3765872	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765879	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3765884	0.85[ASN][1000 genomes]
rs60935759	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61828656	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6540589	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6656628	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669428	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6672972	0.80[ASN][1000 genomes]
rs7354957	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7355019	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7355031	0.83[ASN][1000 genomes]
rs742560	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7527939	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7530104	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7550408	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7550554	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs761171	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210503600-210546800	Weak transcription	Fetal Intestine Small	intestine
2	chr1:210513000-210540400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:210529600-210586000	Weak transcription	Pancreas	Pancrea
4	chr1:210532400-210540200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:210532400-210545800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:210532600-210540200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:210533200-210540800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:210534600-210541800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:210534600-210546800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:210534800-210539400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:210534800-210540000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:210534800-210540000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:210534800-210540000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:210534800-210540000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:210534800-210540200	Weak transcription	Fetal Brain Male	brain
16	chr1:210534800-210543000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:210534800-210543000	Weak transcription	Right Atrium	heart
18	chr1:210535000-210539800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:210535000-210540000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:210536200-210542800	Weak transcription	HSMM	muscle
21	chr1:210536600-210539600	Weak transcription	Fetal Heart	heart
22	chr1:210536800-210540000	Weak transcription	HSMMtube	muscle
23	chr1:210536800-210540200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:210536800-210551000	Weak transcription	Right Ventricle	heart
25	chr1:210536800-210558800	Weak transcription	Fetal Stomach	stomach
26	chr1:210537000-210550600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:210537800-210544600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:210538000-210540400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:210538200-210539800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:210538200-210542800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:210538400-210539400	Weak transcription	HepG2	liver
32	chr1:210538400-210539600	Weak transcription	Thymus	Thymus
33	chr1:210538400-210540000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:210538400-210540000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:210538400-210540400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:210538400-210542600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:210538400-210547000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:210538400-210565600	Weak transcription	Esophagus	oesophagus
39	chr1:210538600-210540000	Weak transcription	Brain Angular Gyrus	brain
40	chr1:210538600-210540000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:210538600-210540000	Weak transcription	HMEC	breast
42	chr1:210538600-210540200	Weak transcription	Brain Anterior Caudate	brain
43	chr1:210538600-210546800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:210538800-210539800	Weak transcription	Brain Substantia Nigra	brain
45	chr1:210538800-210540000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:210539200-210539600	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:210539200-210541000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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