Variant report

Variant	rs62109410
Chromosome Location	chr2:20141792-20141793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20136956..20138570-chr2:20139864..20142025,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12474041	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12479284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731661	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3731667	0.84[ASN][1000 genomes]
rs3943327	0.80[ASN][1000 genomes]
rs62109396	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62109400	0.82[ASN][1000 genomes]
rs62109407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62109409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62109414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62109422	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6734005	0.84[ASN][1000 genomes]
rs72779339	0.81[ASN][1000 genomes]
rs72779347	0.82[ASN][1000 genomes]
rs736952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587014	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	nsv873713	chr2:19955245-20144372	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv873715	chr2:20059323-20144372	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
3	nsv521619	chr2:20098208-20150817	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv527453	chr2:20109061-20160209	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1798392	chr2:20131079-20173255	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20102800-20173200	Weak transcription	Fetal Brain Male	brain
2	chr2:20114400-20143800	Weak transcription	Brain Substantia Nigra	brain
3	chr2:20117600-20188400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:20124800-20142800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:20127400-20167800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:20128400-20188400	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:20128400-20189200	Weak transcription	Small Intestine	intestine
8	chr2:20129400-20143000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:20129400-20144000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:20129400-20184800	Weak transcription	Esophagus	oesophagus
11	chr2:20129600-20149800	Weak transcription	Spleen	Spleen
12	chr2:20129600-20189000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:20130200-20189000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:20130400-20141800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:20130400-20142000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:20130400-20142600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:20130400-20149400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:20130400-20149400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:20130400-20164600	Weak transcription	Lung	lung
20	chr2:20130400-20188800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:20130600-20142800	Weak transcription	Fetal Intestine Small	intestine
22	chr2:20130600-20143800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:20130600-20161200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:20130600-20188800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:20131800-20189000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:20133600-20164800	Weak transcription	Gastric	stomach
27	chr2:20133600-20184800	Weak transcription	Psoas Muscle	Psoas
28	chr2:20133800-20151600	Weak transcription	Fetal Kidney	kidney
29	chr2:20133800-20173200	Weak transcription	NHEK	skin
30	chr2:20133800-20176800	Weak transcription	HMEC	breast
31	chr2:20134200-20168600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:20134400-20146800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:20134600-20148400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:20136400-20148800	Weak transcription	HSMM	muscle
35	chr2:20136400-20150800	Weak transcription	Thymus	Thymus
36	chr2:20136400-20177000	Weak transcription	GM12878-XiMat	blood
37	chr2:20136400-20177200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:20136600-20141800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:20136600-20144200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:20136600-20149400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:20136600-20151600	Weak transcription	Brain Germinal Matrix	brain
42	chr2:20136600-20171200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:20136600-20177200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:20136800-20171400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:20136800-20188800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:20136800-20189000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:20137200-20149200	Weak transcription	HUVEC	blood vessel
48	chr2:20137600-20142600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:20137600-20145000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:20137600-20147400	Weak transcription	NHLF	lung

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