Variant report

Variant	rs7562949
Chromosome Location	chr2:38871030-38871031
allele	C/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38828500..38834187-chr2:38868147..38872142,7	K562	blood:
2	chr2:38869520..38871191-chr2:38897792..38900773,2	K562	blood:
3	chr2:38865694..38869051-chr2:38869356..38872589,6	K562	blood:
4	chr2:38862386..38864039-chr2:38870726..38872820,2	K562	blood:
5	chr2:38825926..38832179-chr2:38868147..38876106,18	K562	blood:
6	chr2:38826349..38827886-chr2:38868902..38871204,2	K562	blood:
7	chr2:38822264..38824489-chr2:38870337..38872562,2	K562	blood:
8	chr2:38838640..38841229-chr2:38869315..38872620,3	K562	blood:
9	chr2:38866346..38869051-chr2:38869593..38871787,4	K562	blood:
10	chr2:38856981..38859644-chr2:38870744..38873095,2	K562	blood:
11	chr2:38850061..38855322-chr2:38870938..38874508,5	K562	blood:
12	chr2:38868989..38871119-chr2:38916647..38918525,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232518	Chromatin interaction
ENSG00000235586	Chromatin interaction
ENSG00000143889	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13032371	0.92[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13412171	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13421362	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13432435	0.81[ASN][1000 genomes]
rs17022996	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17023003	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2099261	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2217537	0.81[ASN][1000 genomes]
rs2373421	0.81[ASN][1000 genomes]
rs6544171	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6717958	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6733950	0.86[ASN][1000 genomes]
rs6735134	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6745646	0.81[ASN][1000 genomes]
rs6751018	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7566698	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609065	0.82[AFR][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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv581484	chr2:38799820-38874177	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv581485	chr2:38839323-38893660	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv873882	chr2:38858669-38921498	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv2762495	chr2:38861095-38886391	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38869600-38872200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:38870200-38872200	Enhancers	Primary hematopoietic stem cells	blood
3	chr2:38870400-38872200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:38870600-38871200	ZNF genes & repeats	GM12878-XiMat	blood
5	chr2:38870600-38871400	Flanking Active TSS	Dnd41	blood
6	chr2:38870600-38871600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:38870600-38872000	Flanking Active TSS	K562	blood
8	chr2:38870600-38872400	Enhancers	Thymus	Thymus
9	chr2:38870800-38871200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:38870800-38871200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:38870800-38871200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:38870800-38871200	Enhancers	HepG2	liver
13	chr2:38870800-38871400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr2:38870800-38871400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:38870800-38871400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr2:38870800-38871400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr2:38870800-38871400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:38870800-38877800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:38870800-38881600	Weak transcription	Spleen	Spleen
20	chr2:38871000-38871400	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr2:38871000-38871400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr2:38871000-38871400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr2:38871000-38871400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr2:38871000-38871400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr2:38871000-38871400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:38871000-38871400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:38871000-38871400	Flanking Active TSS	Fetal Thymus	thymus
28	chr2:38871000-38871800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr2:38871000-38871800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr2:38871000-38871800	Enhancers	Monocytes-CD14+_RO01746	blood

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