Variant report

Variant	rs6720571
Chromosome Location	chr2:182039601-182039602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10204666	0.82[CHB][hapmap]
rs11676297	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12052256	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13031976	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13032688	0.80[ASN][1000 genomes]
rs2368190	0.81[CHB][hapmap]
rs4233791	0.81[ASN][1000 genomes]
rs4305233	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4374330	0.85[ASN][1000 genomes]
rs4667117	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4667121	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4667122	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6433897	0.92[ASN][1000 genomes]
rs6433900	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6734702	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6747797	0.82[CHB][hapmap]
rs6750529	0.87[ASN][1000 genomes]
rs7600236	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7601042	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182031800-182050400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr2:182032400-182048400	Weak transcription	Fetal Thymus	thymus
3	chr2:182035000-182039800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:182035200-182042800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:182035200-182044800	Weak transcription	Dnd41	blood
6	chr2:182035200-182048800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:182036200-182041400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:182036400-182040000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:182036400-182042600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:182037800-182040000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:182038200-182040200	Enhancers	Ovary	ovary
12	chr2:182038400-182043200	Enhancers	HSMMtube	muscle
13	chr2:182038600-182040000	Enhancers	Fetal Stomach	stomach
14	chr2:182039200-182039800	Enhancers	NHLF	lung
15	chr2:182039200-182040200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:182039200-182040200	Enhancers	NHDF-Ad	bronchial
17	chr2:182039200-182040600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:182039400-182040200	Enhancers	Primary T cells from cord blood	blood
19	chr2:182039400-182040400	Enhancers	GM12878-XiMat	blood
20	chr2:182039600-182039800	Enhancers	Fetal Brain Male	brain
21	chr2:182039600-182040400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:182039600-182040400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr2:182039600-182040400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:182039600-182040400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:182039600-182040400	Enhancers	HSMM	muscle
26	chr2:182039600-182044000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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