Variant report

Variant	rs12463526
Chromosome Location	chr2:111595738-111595739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111595145..111597268-chr2:111609719..111611330,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10048703	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10048706	0.84[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12463442	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13417566	0.96[CEU][hapmap];0.99[EUR][1000 genomes]
rs1543107	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2175824	0.96[CEU][hapmap];0.99[EUR][1000 genomes]
rs2612696	0.91[EUR][1000 genomes]
rs4494791	0.83[CHB][hapmap]
rs4849105	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6730627	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	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
6	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
7	esv3427374	chr2:111593681-111597879	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111562800-111604000	Weak transcription	Lung	lung
2	chr2:111590600-111596800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:111590800-111596400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr2:111591400-111597000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:111591600-111597400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:111592000-111598400	Enhancers	Fetal Thymus	thymus
7	chr2:111592400-111596600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:111592400-111596800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:111592400-111597200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:111592600-111596200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:111592600-111596200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:111592600-111596200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:111593200-111596000	Weak transcription	Primary T cells from cord blood	blood
14	chr2:111593200-111596000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:111593200-111598800	Weak transcription	Pancreas	Pancrea
16	chr2:111593400-111601200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:111593600-111596200	Enhancers	Fetal Brain Female	brain
18	chr2:111594000-111598800	Enhancers	Fetal Muscle Leg	muscle
19	chr2:111594400-111596600	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:111594400-111596800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:111594400-111597200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:111594400-111597200	Enhancers	Fetal Stomach	stomach
23	chr2:111594600-111597000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:111595200-111596200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:111595400-111596000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:111595400-111597400	Enhancers	Thymus	Thymus
27	chr2:111595600-111595800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:111595600-111596000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:111595600-111596000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:111595600-111596000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr2:111595600-111596000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr2:111595600-111596000	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
33	chr2:111595600-111596000	Enhancers	Fetal Heart	heart
34	chr2:111595600-111596000	Flanking Active TSS	Fetal Lung	lung
35	chr2:111595600-111596200	Genic enhancers	H9 Cell Line	embryonic stem cell
36	chr2:111595600-111596200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:111595600-111596600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:111595600-111596600	Flanking Active TSS	Dnd41	blood
39	chr2:111595600-111597600	Enhancers	Fetal Kidney	kidney

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