Variant report

Variant	rs2341873
Chromosome Location	chr2:111626734-111626735
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111613927..111616498-chr2:111625288..111627633,2	K562	blood:
2	chr2:111626175..111629011-chr2:111629051..111632341,3	K562	blood:
3	chr2:111626175..111629011-chr2:111629051..111632531,5	K562	blood:
4	chr2:111623532..111625117-chr2:111626164..111628405,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10169852	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10179923	0.86[CEU][hapmap]
rs10180020	0.86[CEU][hapmap]
rs10180446	0.82[CEU][hapmap]
rs10864930	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12711785	0.85[CEU][hapmap]
rs13019266	0.82[CEU][hapmap]
rs1533295	0.82[CEU][hapmap]
rs1533298	0.86[CEU][hapmap];0.82[MEX][hapmap]
rs1533300	0.86[CEU][hapmap]
rs2612698	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2612700	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4848317	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4849134	0.86[CEU][hapmap]
rs4849135	0.86[CEU][hapmap];0.82[MEX][hapmap]
rs4849155	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7576541	0.85[CEU][hapmap]
rs7588925	0.86[CEU][hapmap]
rs9917154	0.85[CEU][hapmap]
rs997523	0.88[AMR][1000 genomes];0.92[EUR][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	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	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
4	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv874840	chr2:111605245-111695479	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1004949	chr2:111607532-111780719	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1002568	chr2:111607532-111781442	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1005665	chr2:111610107-111762039	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv535892	chr2:111610107-111762039	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv874841	chr2:111616304-111685789	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111617400-111630600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:111617400-111630800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:111617600-111632600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:111622400-111630400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:111622400-111630400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:111623000-111630600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:111623000-111630800	Weak transcription	Dnd41	blood
8	chr2:111623800-111629400	Weak transcription	Spleen	Spleen
9	chr2:111624000-111630600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:111624200-111630600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:111624200-111634600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:111624600-111630400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:111624600-111630600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:111624600-111630800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:111624600-111631400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:111624800-111626800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:111624800-111628800	Weak transcription	GM12878-XiMat	blood
18	chr2:111624800-111630000	Weak transcription	Thymus	Thymus
19	chr2:111625000-111626800	Weak transcription	Fetal Thymus	thymus
20	chr2:111625200-111626800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:111625200-111627000	Weak transcription	HMEC	breast
22	chr2:111626000-111627800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:111626200-111627600	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:111626400-111627400	Enhancers	Brain Angular Gyrus	brain
25	chr2:111626400-111627400	Enhancers	Brain Substantia Nigra	brain
26	chr2:111626400-111627600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:111626600-111627400	Enhancers	NH-A	brain
28	chr2:111626600-111627600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:111626600-111627600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:111626600-111627600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:111626600-111627600	Enhancers	Brain Hippocampus Middle	brain
32	chr2:111626600-111627600	Enhancers	Fetal Muscle Leg	muscle

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