Variant report

Variant	rs1533299
Chromosome Location	chr2:111616141-111616142
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	chr2:111613927..111616498-chr2:111625288..111627633,2	K562	blood:
2	chr2:111614729..111616277-chr2:111621749..111623783,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11123201	0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6732565	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111608000-111618800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:111610600-111623600	Weak transcription	Spleen	Spleen
3	chr2:111610800-111616400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:111612600-111616200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:111613400-111616400	Weak transcription	Primary B cells from cord blood	blood
6	chr2:111615600-111616200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:111615600-111616200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:111615600-111616200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:111615600-111616200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:111615600-111617600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:111615600-111618600	Flanking Active TSS	Dnd41	blood
12	chr2:111615800-111616200	Active TSS	Brain Cingulate Gyrus	brain
13	chr2:111615800-111616200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
14	chr2:111615800-111616400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:111615800-111616400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:111615800-111616400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:111615800-111616400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:111615800-111616600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:111615800-111616800	Active TSS	Brain Angular Gyrus	brain
20	chr2:111615800-111616800	Enhancers	Fetal Muscle Leg	muscle
21	chr2:111615800-111617000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr2:111615800-111617000	Active TSS	Brain Hippocampus Middle	brain
23	chr2:111615800-111617000	Active TSS	Brain Substantia Nigra	brain
24	chr2:111615800-111617200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr2:111615800-111617400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr2:111615800-111617400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr2:111615800-111617400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:111615800-111617400	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr2:111615800-111617400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr2:111615800-111617400	Flanking Active TSS	Fetal Thymus	thymus
31	chr2:111615800-111617600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:111615800-111617600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr2:111615800-111617600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:111615800-111617600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr2:111615800-111617600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:111615800-111617600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:111615800-111617800	Enhancers	Primary B cells from peripheral blood	blood
38	chr2:111616000-111616200	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr2:111616000-111616200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:111616000-111616400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:111616000-111616400	Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr2:111616000-111616400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr2:111616000-111616400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:111616000-111616400	Active TSS	Thymus	Thymus
45	chr2:111616000-111616600	Enhancers	GM12878-XiMat	blood
46	chr2:111616000-111616800	Active TSS	Brain Anterior Caudate	brain
47	chr2:111616000-111616800	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr2:111616000-111617400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:111616000-111619000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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