Variant report

Variant	rs7596417
Chromosome Location	chr2:189229726-189229727
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189198100..189200687-chr2:189228875..189230622,2	MCF-7	breast:
2	chr2:189228878..189231358-chr2:189242598..189245349,3	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10168173	1.00[EUR][1000 genomes]
rs10497688	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13393870	1.00[EUR][1000 genomes]
rs13394334	1.00[EUR][1000 genomes]
rs13430185	1.00[EUR][1000 genomes]
rs13430412	1.00[EUR][1000 genomes]
rs16829836	1.00[EUR][1000 genomes]
rs16829866	1.00[EUR][1000 genomes]
rs16829915	1.00[EUR][1000 genomes]
rs16829922	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs58718952	1.00[EUR][1000 genomes]
rs58765845	1.00[EUR][1000 genomes]
rs59058494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59329932	1.00[EUR][1000 genomes]
rs60885306	1.00[EUR][1000 genomes]
rs61163899	1.00[EUR][1000 genomes]
rs6705443	1.00[EUR][1000 genomes]
rs6709650	1.00[EUR][1000 genomes]
rs6716922	1.00[EUR][1000 genomes]
rs6721812	1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036471	1.00[EUR][1000 genomes]
rs73036479	1.00[EUR][1000 genomes]
rs73036496	1.00[EUR][1000 genomes]
rs73039680	1.00[EUR][1000 genomes]
rs73039697	1.00[EUR][1000 genomes]
rs73039700	1.00[EUR][1000 genomes]
rs73040411	1.00[EUR][1000 genomes]
rs73040428	1.00[EUR][1000 genomes]
rs73040439	1.00[EUR][1000 genomes]
rs73040442	1.00[EUR][1000 genomes]
rs73040450	1.00[EUR][1000 genomes]
rs73040454	1.00[EUR][1000 genomes]
rs73041610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041636	1.00[EUR][1000 genomes]
rs73041644	1.00[EUR][1000 genomes]
rs73041648	1.00[EUR][1000 genomes]
rs73041649	1.00[EUR][1000 genomes]
rs7340152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7560857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7577096	1.00[EUR][1000 genomes]
rs7577467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7586703	1.00[EUR][1000 genomes]
rs7588114	1.00[EUR][1000 genomes]
rs7592433	1.00[EUR][1000 genomes]
rs7592539	1.00[EUR][1000 genomes]
rs7597930	1.00[EUR][1000 genomes]
rs7598380	1.00[EUR][1000 genomes]
rs7599101	1.00[EUR][1000 genomes]
rs9653310	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv584053	chr2:189184422-189245515	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv584054	chr2:189185726-189233419	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189199400-189247600	Weak transcription	Aorta	Aorta
2	chr2:189211000-189243400	Weak transcription	HUVEC	blood vessel
3	chr2:189217000-189234600	Weak transcription	Psoas Muscle	Psoas
4	chr2:189218800-189248800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:189219400-189232000	Weak transcription	Pancreas	Pancrea
6	chr2:189224400-189247000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:189225200-189230800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:189226200-189229800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:189227600-189230600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:189228400-189230800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:189228800-189230000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:189229200-189229800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:189229200-189230200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:189229200-189231800	Weak transcription	A549	lung
15	chr2:189229200-189243000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:189229400-189229800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:189229400-189229800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:189229400-189229800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:189229400-189230400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:189229400-189234400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:189229400-189242200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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