Variant report

Variant	rs67749053
Chromosome Location	chr11:93420565-93420566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93418083..93421940-chr11:93461285..93464407,3	K562	blood:
2	chr11:93419546..93421326-chr11:93432720..93434268,2	K562	blood:
3	chr11:93418746..93421046-chr11:93432276..93434220,2	K562	blood:
4	chr11:93420244..93422079-chr11:93462661..93464470,2	K562	blood:

Variant related genes	Relation type
ENSG00000207112	Chromatin interaction
ENSG00000206799	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11822585	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1807990	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1939573	0.84[EUR][1000 genomes]
rs2077408	0.84[ASN][1000 genomes]
rs58172303	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58671261	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59031514	0.86[ASN][1000 genomes]
rs61743303	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66460850	0.86[ASN][1000 genomes]
rs67112133	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67182840	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67257421	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67310816	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67437695	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67769616	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67773478	0.84[EUR][1000 genomes]
rs67879380	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7109236	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7115759	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72643380	0.90[ASN][1000 genomes]
rs7930516	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7937500	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7939577	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93395600-93446800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:93397400-93441400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:93397600-93441000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:93398000-93426200	Strong transcription	Hela-S3	cervix
5	chr11:93398600-93426000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:93398800-93440800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:93398800-93442200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:93398800-93443200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:93399000-93426200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:93399000-93426200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:93399200-93439800	Strong transcription	Dnd41	blood
12	chr11:93399800-93422200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr11:93399800-93422400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr11:93399800-93442200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:93400400-93443200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:93400400-93445600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:93401000-93423400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:93408800-93422200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr11:93409800-93423400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:93410000-93444000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr11:93410200-93441400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:93411600-93441400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:93411600-93442400	Strong transcription	Fetal Intestine Large	intestine
24	chr11:93412000-93426200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:93412200-93434600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr11:93413800-93421800	Weak transcription	Lung	lung
27	chr11:93413800-93422200	Weak transcription	Colonic Mucosa	Colon
28	chr11:93413800-93430400	Weak transcription	Aorta	Aorta
29	chr11:93413800-93430400	Weak transcription	Esophagus	oesophagus
30	chr11:93413800-93430400	Weak transcription	Pancreas	Pancrea
31	chr11:93413800-93434400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:93414000-93430000	Weak transcription	Spleen	Spleen
33	chr11:93415600-93438200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:93415600-93441400	Strong transcription	Liver	Liver
35	chr11:93415800-93421400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:93415800-93422800	Strong transcription	Fetal Lung	lung
37	chr11:93415800-93423400	Strong transcription	Brain Germinal Matrix	brain
38	chr11:93415800-93423400	Strong transcription	GM12878-XiMat	blood
39	chr11:93415800-93423800	Strong transcription	Primary T cells from cord blood	blood
40	chr11:93415800-93426000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:93415800-93438000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr11:93415800-93442000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr11:93416000-93423000	Strong transcription	HUVEC	blood vessel
44	chr11:93416000-93423400	Strong transcription	Fetal Brain Female	brain
45	chr11:93416000-93423400	Strong transcription	Placenta	Placenta
46	chr11:93416000-93440400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:93418000-93421600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:93418000-93421800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr11:93418000-93422400	Weak transcription	Gastric	stomach
50	chr11:93418000-93430200	Weak transcription	Stomach Mucosa	stomach

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