Variant report

Variant	rs2186381
Chromosome Location	chr11:58397793-58397794
allele	A/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	chr11:58397577..58400348-chr11:58551728..58554179,2	K562	blood:
2	chr11:58345069..58346999-chr11:58395719..58399095,3	MCF-7	breast:
3	chr11:58344688..58347632-chr11:58397286..58399354,2	MCF-7	breast:
4	chr11:58397520..58400716-chr11:58402056..58406653,5	K562	blood:
5	chr11:58346671..58347279-chr11:58397113..58398063,2	MCF-7	breast:
6	chr11:58396664..58398524-chr11:58408556..58410829,2	K562	blood:
7	chr11:58344656..58347386-chr11:58396033..58399081,4	K562	blood:
8	chr11:58344216..58344800-chr11:58397105..58397970,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000186660	Chromatin interaction
ENSG00000255073	Chromatin interaction
ENSG00000110031	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11229535	0.95[EUR][1000 genomes]
rs11229537	0.94[EUR][1000 genomes]
rs11229552	0.84[EUR][1000 genomes]
rs11541682	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12365551	0.94[EUR][1000 genomes]
rs17489568	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17568220	0.84[EUR][1000 genomes]
rs1800169	0.84[EUR][1000 genomes]
rs1938601	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1944051	0.84[EUR][1000 genomes]
rs2298607	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3829218	0.93[EUR][1000 genomes]
rs60767173	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7112350	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73470773	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73470778	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7481388	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7482383	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7484263	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7945889	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs948562	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832168	chr11:58394060-58564651	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer 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	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58385600-58400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:58386800-58400000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:58392000-58406000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:58392200-58399200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:58392200-58400800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:58392400-58402000	Weak transcription	Fetal Intestine Small	intestine
7	chr11:58392600-58400600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:58392800-58399400	Weak transcription	Lung	lung
9	chr11:58393000-58398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:58393000-58400000	Weak transcription	Ovary	ovary
11	chr11:58393000-58407200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:58393200-58398600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:58393200-58398600	Weak transcription	Fetal Stomach	stomach
14	chr11:58393200-58399600	Weak transcription	Right Ventricle	heart
15	chr11:58393200-58400200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:58393200-58407000	Weak transcription	Thymus	Thymus
17	chr11:58393600-58399000	Weak transcription	Pancreas	Pancrea
18	chr11:58393800-58397800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:58393800-58399400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:58393800-58401000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:58393800-58406200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:58393800-58407800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:58394000-58398400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:58394000-58398800	Weak transcription	Fetal Brain Female	brain
25	chr11:58394000-58399400	Weak transcription	Liver	Liver
26	chr11:58394000-58399800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:58394000-58407200	Weak transcription	Left Ventricle	heart
28	chr11:58394000-58407800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr11:58394600-58398000	Weak transcription	K562	blood
30	chr11:58394600-58398400	Weak transcription	Fetal Intestine Large	intestine
31	chr11:58394600-58399000	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:58394600-58399800	Weak transcription	A549	lung
33	chr11:58394600-58400600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr11:58394600-58401600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:58394600-58407200	Weak transcription	Primary T cells from cord blood	blood
36	chr11:58394600-58407200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:58394800-58397800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr11:58394800-58400600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:58394800-58400600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:58394800-58400800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:58394800-58400800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:58394800-58400800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:58394800-58407000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr11:58394800-58408200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:58395200-58400000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:58395200-58402000	Weak transcription	GM12878-XiMat	blood
47	chr11:58395200-58403600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:58395200-58407000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr11:58395200-58407000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr11:58395600-58397800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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