Variant report

Variant	rs4255970
Chromosome Location	chr2:111526289-111526290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111521418..111524009-chr2:111524992..111527705,2	K562	blood:
2	chr2:111523751..111526713-chr2:111533079..111535108,2	K562	blood:
3	chr2:111523805..111526448-chr2:111526979..111529518,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10175974	1.00[CEU][hapmap]
rs10203271	1.00[CEU][hapmap]
rs11900983	1.00[CEU][hapmap]
rs11903773	1.00[CEU][hapmap]
rs13386878	1.00[CEU][hapmap]
rs13388313	0.92[ASN][1000 genomes]
rs13398617	1.00[CEU][hapmap]
rs13410685	1.00[CEU][hapmap]
rs13415981	1.00[CEU][hapmap]
rs13421709	0.92[ASN][1000 genomes]
rs13426054	1.00[CEU][hapmap]
rs13430683	1.00[CEU][hapmap]
rs17041539	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17041553	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17041554	0.82[EUR][1000 genomes]
rs17041555	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17041561	0.82[EUR][1000 genomes]
rs17464100	0.89[ASN][1000 genomes]
rs28452164	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34026418	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3817265	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55682108	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55780486	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55849112	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55857945	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55875504	1.00[EUR][1000 genomes]
rs55875530	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55927063	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56010803	0.82[EUR][1000 genomes]
rs56031628	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56062220	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56110941	1.00[EUR][1000 genomes]
rs56146538	1.00[EUR][1000 genomes]
rs56165253	1.00[EUR][1000 genomes]
rs56169320	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56177778	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56181028	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56202720	0.92[ASN][1000 genomes]
rs56238325	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56260092	1.00[EUR][1000 genomes]
rs56272335	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56281800	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56289191	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56320021	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57101781	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57318054	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57847126	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57862073	1.00[EUR][1000 genomes]
rs58054304	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58569659	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58588523	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59258102	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59413237	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60185821	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60357733	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61124407	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61376946	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61637608	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66616139	1.00[EUR][1000 genomes]
rs72828836	0.82[EUR][1000 genomes]
rs72828838	0.82[EUR][1000 genomes]
rs72828843	1.00[EUR][1000 genomes]
rs72828844	1.00[EUR][1000 genomes]
rs72828845	1.00[EUR][1000 genomes]
rs72828846	1.00[EUR][1000 genomes]
rs72828849	1.00[EUR][1000 genomes]
rs72828851	1.00[EUR][1000 genomes]
rs72828852	1.00[EUR][1000 genomes]
rs72828854	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72828856	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72828857	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72828859	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72828861	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72830976	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72830979	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72830980	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72830982	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72830984	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72830985	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72830986	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72830989	1.00[EUR][1000 genomes]
rs72830990	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72830993	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72830995	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830996	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72830997	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831000	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832803	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72832804	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832809	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832810	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832812	0.92[ASN][1000 genomes]
rs72832813	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832815	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832816	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832817	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832818	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832820	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832821	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832822	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832824	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832826	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72832828	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832837	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832838	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832839	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832840	0.89[ASN][1000 genomes]
rs72832841	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832842	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832843	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832846	0.82[EUR][1000 genomes]
rs7419932	1.00[CEU][hapmap]
rs7581640	1.00[CEU][hapmap]
rs7592058	0.92[ASN][1000 genomes]
rs7609252	1.00[CEU][hapmap]
rs977406	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs981196	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:111524200-111526600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:111524800-111527600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:111524800-111528000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:111525000-111531600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:111525200-111527600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:111525200-111531000	Weak transcription	Lung	lung
7	chr2:111525600-111526800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:111525800-111526600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:111525800-111526600	Enhancers	Fetal Heart	heart
10	chr2:111525800-111526800	Bivalent Enhancer	HepG2	liver
11	chr2:111525800-111527000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:111525800-111530000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:111526000-111526600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:111526000-111526800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:111526000-111526800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:111526000-111527600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:111526200-111526400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr2:111526200-111526400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:111526200-111526400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:111526200-111526400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:111526200-111526600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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