Variant report

Variant	rs12040334
Chromosome Location	chr1:211663429-211663430
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr1:211663142-211663446	K562	blood:	n/a	n/a
2	CTCF	chr1:211663380-211663530	SK-N-SH_RA	brain:	n/a	n/a
3	FOXP2	chr1:211663225-211663684	SK-N-MC	brain:	n/a	n/a
4	CTCF	chr1:211663280-211663430	WERI-Rb-1	eye:	n/a	n/a
5	POLR2A	chr1:211663209-211663622	SK-N-MC	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211656913..211659183-chr1:211661740..211664664,3	K562	blood:
2	chr1:211661224..211663445-chr1:211663571..211666453,2	MCF-7	breast:
3	chr1:210548070..210550823-chr1:211662060..211664424,2	K562	blood:
4	chr1:211652788..211656441-chr1:211661020..211664224,3	K562	blood:
5	chr1:211652788..211655189-chr1:211662354..211664224,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10863898	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11806169	0.85[YRI][hapmap]
rs12041942	0.83[CHB][hapmap];0.96[YRI][hapmap]
rs12095062	0.95[ASN][1000 genomes]
rs2884415	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60545899	0.85[AFR][1000 genomes]
rs7512666	0.90[YRI][hapmap];0.92[AFR][1000 genomes]
rs7527404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs755448	0.83[CHB][hapmap];0.96[YRI][hapmap];0.82[AFR][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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211647800-211664600	Weak transcription	Gastric	stomach
2	chr1:211648000-211665600	Weak transcription	Right Atrium	heart
3	chr1:211657600-211663800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:211659200-211666800	Weak transcription	Fetal Heart	heart
5	chr1:211659200-211687600	Weak transcription	Spleen	Spleen
6	chr1:211662200-211664200	Enhancers	K562	blood
7	chr1:211663000-211663600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:211663000-211663800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:211663000-211664000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:211663000-211664000	Enhancers	Fetal Muscle Leg	muscle
11	chr1:211663000-211664200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:211663000-211664600	Enhancers	Liver	Liver
13	chr1:211663000-211666200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:211663000-211667600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:211663400-211663600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:211663400-211663800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:211663400-211663800	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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