Variant report

Variant	rs4609986
Chromosome Location	chr2:149310132-149310133
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	chr2:149308756..149311819-chr2:149312294..149315148,3	K562	blood:
2	chr2:149300100..149301867-chr2:149308613..149310548,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12615627	0.84[EUR][1000 genomes]
rs12620020	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12622366	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12691800	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12691802	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13014625	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13014829	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1550858	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16828718	1.00[CEU][hapmap]
rs1868396	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1868397	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1975596	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4972284	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4972376	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4972379	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4972382	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4972385	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55933306	0.84[EUR][1000 genomes]
rs56797270	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57835656	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6708007	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73005293	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73005300	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73005302	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73007306	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73007314	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73007341	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73016733	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7579702	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7592968	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs7601936	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs9287418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs978509	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer 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	5 gene(s)	inside rSNPs	diseases
4	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2762913	chr2:149249683-149345487	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv527539	chr2:149283070-149330251	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	2 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	chr2:149292800-149310400	Weak transcription	Right Atrium	heart
2	chr2:149303200-149311000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:149304400-149310400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:149304800-149310200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:149304800-149310200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:149305000-149310200	Weak transcription	Primary T cells from cord blood	blood
7	chr2:149305200-149310200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:149305200-149310400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:149305400-149310200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:149305400-149310200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:149307000-149310200	Weak transcription	Fetal Lung	lung
12	chr2:149308800-149310400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:149309000-149310200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:149309000-149311000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:149309200-149312000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:149309400-149310400	Weak transcription	Placenta	Placenta
17	chr2:149309600-149310200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr2:149309800-149310200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:149309800-149310200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr2:149309800-149310200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:149309800-149310200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:149309800-149310200	Enhancers	GM12878-XiMat	blood
23	chr2:149309800-149310600	Enhancers	Lung	lung
24	chr2:149310000-149310200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr2:149310000-149310200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:149310000-149310200	Enhancers	Adipose Nuclei	Adipose
27	chr2:149310000-149310200	Enhancers	Thymus	Thymus
28	chr2:149310000-149310200	Enhancers	Dnd41	blood
29	chr2:149310000-149310200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:149310000-149310400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:149310000-149310600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr2:149310000-149311400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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