Variant report

Variant	rs3122618
Chromosome Location	chr1:47794478-47794479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:47794396-47794514	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47779023..47781686-chr1:47794382..47795947,2	MCF-7	breast:

Variant related genes	Relation type
CMPK1	TF binding region
ENSG00000123473	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10489596	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11211503	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211514	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12081669	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12084661	0.91[ASN][1000 genomes]
rs12090153	1.00[YRI][hapmap]
rs12090346	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17103075	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17103186	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2475761	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2494245	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2622922	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2622923	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2742080	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2758741	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2821095	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3125626	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3125634	0.82[ASN][1000 genomes]
rs7532785	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9436412	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9436883	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[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	esv3390574	chr1:47778981-47803091	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47780200-47798400	Weak transcription	Spleen	Spleen
2	chr1:47780600-47798000	Weak transcription	HSMMtube	muscle
3	chr1:47780800-47797800	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:47789800-47796200	Weak transcription	K562	blood
5	chr1:47790200-47797400	Weak transcription	Fetal Intestine Large	intestine
6	chr1:47790600-47797000	Weak transcription	Pancreas	Pancrea
7	chr1:47790600-47797800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:47791800-47797600	Weak transcription	Fetal Intestine Small	intestine
9	chr1:47791800-47798200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:47792400-47797600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:47792400-47797800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:47792600-47795000	Weak transcription	Fetal Stomach	stomach
13	chr1:47792600-47798000	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:47792600-47798400	Weak transcription	Primary T cells from cord blood	blood
15	chr1:47792800-47798600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:47793200-47797600	Weak transcription	Brain Germinal Matrix	brain
17	chr1:47793200-47797800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:47793400-47796600	Weak transcription	Esophagus	oesophagus
19	chr1:47793600-47797400	Weak transcription	Fetal Brain Female	brain
20	chr1:47793600-47798000	Weak transcription	Left Ventricle	heart
21	chr1:47794000-47798200	Weak transcription	Ovary	ovary
22	chr1:47794200-47794800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:47794200-47797800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:47794200-47798000	Weak transcription	Liver	Liver
25	chr1:47794400-47795000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:47794400-47795200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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