Variant report

Variant	rs4849155
Chromosome Location	chr2:111635197-111635198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10169852	0.95[CEU][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10179923	0.86[CEU][hapmap];0.87[JPT][hapmap]
rs10180020	0.86[CEU][hapmap]
rs10180446	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs10864930	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12711785	0.85[CEU][hapmap];0.80[JPT][hapmap]
rs13019266	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs1533295	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs1533298	0.86[CEU][hapmap];0.82[MEX][hapmap]
rs1533300	0.86[CEU][hapmap]
rs2341873	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]
rs2612698	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2612700	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4848317	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4849134	0.86[CEU][hapmap];0.81[JPT][hapmap]
rs4849135	0.86[CEU][hapmap];0.81[JPT][hapmap]
rs729386	0.81[MEX][hapmap]
rs7576541	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs7588925	0.86[CEU][hapmap];0.81[JPT][hapmap]
rs9917154	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs997523	0.92[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111626800-111635600	Enhancers	Fetal Thymus	thymus
2	chr2:111630800-111637400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:111631200-111635800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:111631800-111635600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:111632000-111635600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:111632000-111635600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:111632000-111637400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:111632000-111662000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:111632400-111637600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:111632800-111642600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:111633800-111635600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:111634000-111635400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:111634200-111635400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:111634400-111635400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr2:111634400-111635400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:111634400-111635400	Enhancers	Thymus	Thymus
17	chr2:111634400-111635400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr2:111634400-111635600	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:111634600-111635200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr2:111634600-111635200	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr2:111634600-111635200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:111634600-111635400	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:111634600-111635400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:111634600-111635600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:111634600-111635600	Enhancers	Spleen	Spleen
26	chr2:111634800-111635400	Enhancers	Fetal Muscle Leg	muscle
27	chr2:111634800-111635600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:111634800-111635600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:111634800-111635600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:111635000-111635200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:111635000-111635200	Weak transcription	Lung	lung
32	chr2:111635000-111635600	Enhancers	Dnd41	blood
33	chr2:111635000-111638600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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