Variant report

Variant	rs7568338
Chromosome Location	chr2:142261562-142261563
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:142259034..142262033-chr2:142268324..142270584,3	MCF-7	breast:
2	chr2:142224840..142226819-chr2:142260426..142263186,2	MCF-7	breast:
3	chr2:142260948..142262730-chr2:142271665..142273452,2	MCF-7	breast:
4	chr2:142259654..142261746-chr2:142265611..142267711,3	MCF-7	breast:
5	chr2:142260415..142263091-chr2:142286815..142289016,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10496884	1.00[CHB][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs10928107	0.84[ASW][hapmap];1.00[MEX][hapmap]
rs11674506	0.82[TSI][hapmap]
rs11685267	0.86[TSI][hapmap]
rs11690880	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992656	1.00[JPT][hapmap]
rs12993733	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13001306	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13001716	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs13009586	1.00[JPT][hapmap]
rs13018345	1.00[JPT][hapmap]
rs13019402	0.91[CEU][hapmap];0.81[TSI][hapmap]
rs13421306	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16846362	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17548023	1.00[JPT][hapmap]
rs17552442	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17616060	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17791266	0.86[TSI][hapmap]
rs1842932	1.00[JPT][hapmap]
rs2890614	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs34050146	0.90[ASN][1000 genomes]
rs34531296	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35266942	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35390851	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36057199	1.00[ASN][1000 genomes]
rs4328578	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340448	1.00[JPT][hapmap]
rs4340449	0.80[LWK][hapmap];0.92[YRI][hapmap]
rs4375803	0.84[ASW][hapmap];1.00[MEX][hapmap]
rs4588128	1.00[JPT][hapmap]
rs4599051	0.92[YRI][hapmap]
rs4635467	0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6429882	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6717454	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6741998	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6744016	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746208	1.00[JPT][hapmap]
rs6748629	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs6759190	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7585876	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7592987	0.86[TSI][hapmap]
rs7606229	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817518	chr2:141714174-142287302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv583203	chr2:142055133-142378975	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875240	chr2:142199421-142347455	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv459607	chr2:142226768-142263400	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv583207	chr2:142226768-142263400	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv459618	chr2:142246988-142263746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv583209	chr2:142246988-142263746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv470491	chr2:142254119-142299923	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv834393	chr2:142256714-142431564	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	nsv583210	chr2:142259592-142295042	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142247800-142266200	Weak transcription	Brain Anterior Caudate	brain
2	chr2:142256400-142263600	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:142257800-142265800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:142258000-142265800	Weak transcription	Brain Substantia Nigra	brain
5	chr2:142259800-142262600	Weak transcription	Fetal Brain Male	brain
6	chr2:142260200-142263400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:142261000-142261600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:142261000-142261800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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