Variant report

Variant	rs922902
Chromosome Location	chr2:48372254-48372255
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:48370722..48375338-chr2:48376531..48380456,5	K562	blood:
2	chr2:48370508..48374729-chr2:48375813..48379689,4	K562	blood:
3	chr2:48352400..48354520-chr2:48371427..48374180,2	K562	blood:
4	chr2:48370645..48373408-chr2:48541543..48543574,3	K562	blood:
5	chr2:48371645..48374559-chr2:48396307..48398621,2	K562	blood:
6	chr2:48346581..48349566-chr2:48371510..48373940,2	K562	blood:
7	chr2:48340519..48342551-chr2:48370795..48372930,3	K562	blood:
8	chr2:48360848..48365777-chr2:48371665..48375027,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170802	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10167776	0.86[EUR][1000 genomes]
rs11125165	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11125166	0.85[ASN][1000 genomes]
rs1473611	0.87[EUR][1000 genomes]
rs1483210	0.87[EUR][1000 genomes]
rs1483215	0.87[EUR][1000 genomes]
rs17324704	0.86[EUR][1000 genomes]
rs1878079	0.84[EUR][1000 genomes]
rs1878081	0.81[EUR][1000 genomes]
rs2128719	0.93[ASN][1000 genomes]
rs2136456	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2348717	0.89[ASN][1000 genomes]
rs2348718	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28460586	0.84[EUR][1000 genomes]
rs2882003	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4146603	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952904	0.86[EUR][1000 genomes]
rs4952905	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4953544	0.80[EUR][1000 genomes]
rs4953546	0.81[EUR][1000 genomes]
rs4953548	0.89[ASN][1000 genomes]
rs4953549	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4953552	1.00[ASN][1000 genomes]
rs4953553	1.00[ASN][1000 genomes]
rs4953555	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953556	1.00[ASN][1000 genomes]
rs4953557	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58178746	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58525908	1.00[ASN][1000 genomes]
rs6545011	0.92[CEU][hapmap]
rs6545017	0.82[EUR][1000 genomes]
rs6545019	0.87[EUR][1000 genomes]
rs6545021	0.89[ASN][1000 genomes]
rs6545023	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706664	0.82[EUR][1000 genomes]
rs6712238	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6718037	0.89[ASN][1000 genomes]
rs6722407	0.89[ASN][1000 genomes]
rs6723952	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6759902	0.87[EUR][1000 genomes]
rs7563749	0.86[EUR][1000 genomes]
rs7570354	1.00[ASN][1000 genomes]
rs7589460	0.89[ASN][1000 genomes]
rs7605361	0.89[ASN][1000 genomes]
rs7609124	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs900506	0.81[EUR][1000 genomes]
rs900510	0.86[EUR][1000 genomes]
rs922903	0.89[ASN][1000 genomes]
rs963133	0.86[EUR][1000 genomes]
rs963135	0.86[EUR][1000 genomes]
rs9677729	1.00[ASN][1000 genomes]
rs968888	0.82[EUR][1000 genomes]
rs973894	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs990063	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs990549	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48371400-48372800	Enhancers	Fetal Heart	heart
2	chr2:48371600-48372800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr2:48371600-48372800	Enhancers	Dnd41	blood
4	chr2:48371600-48372800	Enhancers	K562	blood
5	chr2:48371800-48372400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:48371800-48372400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr2:48371800-48372400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:48371800-48372400	Enhancers	Left Ventricle	heart
9	chr2:48371800-48372400	Enhancers	Lung	lung
10	chr2:48371800-48372600	Enhancers	HepG2	liver
11	chr2:48371800-48373000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:48371800-48373600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr2:48371800-48374600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:48371800-48374600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:48372000-48372600	Weak transcription	Fetal Intestine Large	intestine
16	chr2:48372000-48372800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:48372000-48372800	Enhancers	Brain Substantia Nigra	brain
18	chr2:48372000-48373000	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:48372000-48373200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:48372000-48373600	Enhancers	Fetal Intestine Small	intestine
21	chr2:48372000-48374000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:48372200-48372600	Weak transcription	Primary T cells from cord blood	blood
23	chr2:48372200-48372600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr2:48372200-48373000	Enhancers	Primary T helper cells fromperipheralblood	blood

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