Variant report

Variant	rs580821
Chromosome Location	chr11:107421504-107421505
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107421165..107423660-chr11:107430617..107433825,3	K562	blood:
2	chr11:107421430..107424256-chr11:107432325..107434776,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1784274	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs477206	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs477390	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs494029	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs501373	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs533757	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs561680	0.80[EUR][1000 genomes]
rs567953	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs589316	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs589517	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs589788	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs596149	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs601982	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs604395	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs613055	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619172	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs619633	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs621303	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs630480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs641502	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs648717	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs652320	0.90[EUR][1000 genomes]
rs654093	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs655009	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs664084	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs665905	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs667741	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs668739	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs670393	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs682334	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898365	chr11:106944975-107430300	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv898366	chr11:106944975-107433835	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv898370	chr11:107027991-107430300	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv898372	chr11:107049968-107433835	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv898373	chr11:107124903-107433835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv898376	chr11:107299631-107443420	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107370000-107433800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:107372000-107435600	Weak transcription	Colonic Mucosa	Colon
3	chr11:107372800-107434600	Weak transcription	Placenta	Placenta
4	chr11:107373200-107423200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:107376600-107434600	Weak transcription	Lung	lung
6	chr11:107376800-107434600	Weak transcription	Psoas Muscle	Psoas
7	chr11:107377000-107432600	Weak transcription	K562	blood
8	chr11:107378600-107433800	Weak transcription	Fetal Kidney	kidney
9	chr11:107382000-107434200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:107389800-107434600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:107389800-107435600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:107390000-107423000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:107395200-107431800	Weak transcription	A549	lung
14	chr11:107399800-107435600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:107401200-107434200	Weak transcription	Fetal Brain Female	brain
16	chr11:107402600-107430000	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:107403000-107434600	Weak transcription	Fetal Thymus	thymus
18	chr11:107406400-107427800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:107406800-107423200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:107406800-107433200	Weak transcription	HSMMtube	muscle
21	chr11:107407200-107434400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:107407800-107423800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:107407800-107433800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:107408000-107434600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:107408200-107423200	Weak transcription	Fetal Lung	lung
26	chr11:107408200-107425600	Weak transcription	Pancreas	Pancrea
27	chr11:107408200-107435800	Weak transcription	Gastric	stomach
28	chr11:107409600-107434600	Weak transcription	HepG2	liver
29	chr11:107412000-107433600	Weak transcription	Small Intestine	intestine
30	chr11:107416000-107432400	Weak transcription	NHLF	lung
31	chr11:107416200-107422200	Strong transcription	Primary T cells from cord blood	blood
32	chr11:107416200-107433600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:107416200-107433600	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:107416200-107434600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:107416400-107432600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:107416400-107432800	Weak transcription	Hela-S3	cervix
37	chr11:107416400-107433000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:107416600-107423800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:107416600-107431800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:107416800-107427800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:107417200-107429000	Weak transcription	Osteobl	bone
42	chr11:107417200-107432000	Weak transcription	NHEK	skin
43	chr11:107417400-107429600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:107417400-107432400	Weak transcription	HMEC	breast
45	chr11:107417600-107422200	Strong transcription	Primary B cells from cord blood	blood
46	chr11:107417600-107426400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:107417600-107433200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:107417600-107433600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:107417800-107426600	Strong transcription	Dnd41	blood
50	chr11:107418000-107425000	Strong transcription	Primary T cells fromperipheralblood	blood

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