Variant report

Variant	rs547767
Chromosome Location	chr11:85743449-85743450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85741889..85743543-chr11:85978004..85980141,2	K562	blood:
2	chr11:85741019..85743980-chr11:85750116..85753197,4	K562	blood:
3	chr11:85739064..85744454-chr11:85744719..85749528,8	K562	blood:
4	chr11:85743346..85745394-chr11:85746206..85747764,2	K562	blood:
5	chr11:85742480..85744643-chr11:85751587..85754338,2	K562	blood:

Variant related genes	Relation type
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11234493	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1237230	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1513390	0.82[ASN][1000 genomes]
rs1996108	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2077815	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2155051	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2458493	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2458496	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2458499	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2458500	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2508688	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2509608	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2509609	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3016327	0.82[EUR][1000 genomes]
rs472618	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs488134	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs489486	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs494369	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs497711	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs504129	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs527162	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs528109	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs540422	0.86[ASN][1000 genomes]
rs542167	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs544458	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs544848	0.89[ASN][1000 genomes]
rs548121	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs556562	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs564658	0.87[ASN][1000 genomes]
rs583126	0.84[ASN][1000 genomes]
rs585820	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs588076	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs588380	0.87[ASN][1000 genomes]
rs592297	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs592314	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs595972	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs597446	0.86[ASN][1000 genomes]
rs600258	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs600743	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs601185	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs602391	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs603615	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs616555	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs617836	0.91[ASN][1000 genomes]
rs618001	0.87[ASN][1000 genomes]
rs618629	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs618679	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs622220	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs626542	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs627818	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs634719	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs635168	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs637304	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs648270	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs654194	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs655641	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs659801	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs664050	0.89[ASN][1000 genomes]
rs669556	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs670606	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs680119	0.88[ASN][1000 genomes]
rs682366	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs75751	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7951988	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs867611	0.87[AFR][1000 genomes]
rs9804630	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1053808	chr11:85588919-85757693	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv468769	chr11:85683554-85757589	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv555641	chr11:85683554-85757589	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv898054	chr11:85683554-85772636	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv468770	chr11:85688209-85751883	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv555642	chr11:85688209-85751883	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv468771	chr11:85688209-85757589	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv468773	chr11:85688209-85757589	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv555643	chr11:85688209-85757589	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv468774	chr11:85688209-85775059	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv555644	chr11:85688209-85775059	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85659400-85745800	Weak transcription	Stomach Mucosa	stomach
2	chr11:85701000-85745000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:85716800-85746200	Weak transcription	Pancreas	Pancrea
4	chr11:85721800-85745800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:85727800-85745800	Weak transcription	Right Ventricle	heart
6	chr11:85731600-85754200	Weak transcription	Brain Germinal Matrix	brain
7	chr11:85732200-85744600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:85732800-85744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:85733200-85754000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:85734200-85743600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:85737000-85746200	Weak transcription	Fetal Intestine Small	intestine
12	chr11:85737000-85746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:85737000-85752800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:85737200-85744200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:85737200-85744400	Weak transcription	Gastric	stomach
16	chr11:85737200-85744400	Weak transcription	Ovary	ovary
17	chr11:85737200-85747800	Weak transcription	Spleen	Spleen
18	chr11:85737200-85751800	Weak transcription	NHLF	lung
19	chr11:85737200-85755200	Weak transcription	Lung	lung
20	chr11:85737200-85755600	Weak transcription	Esophagus	oesophagus
21	chr11:85737400-85744000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:85738000-85746200	Weak transcription	HSMMtube	muscle
23	chr11:85738400-85752400	Weak transcription	Fetal Kidney	kidney
24	chr11:85738600-85744400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:85738800-85752000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:85739000-85749200	Weak transcription	Fetal Stomach	stomach
27	chr11:85740000-85744400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:85740400-85751800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:85740400-85755600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:85740600-85744200	Weak transcription	Brain Anterior Caudate	brain
31	chr11:85740600-85744400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:85740600-85745800	Weak transcription	A549	lung
33	chr11:85740600-85750400	Weak transcription	Colonic Mucosa	Colon
34	chr11:85740600-85752600	Weak transcription	NHEK	skin
35	chr11:85740800-85744400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:85740800-85744800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:85740800-85754000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:85741000-85744000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr11:85741000-85745400	Weak transcription	Fetal Brain Female	brain
40	chr11:85741400-85751800	Weak transcription	HMEC	breast
41	chr11:85741600-85746200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr11:85742000-85745000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:85742000-85745200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr11:85742000-85746400	Weak transcription	Fetal Brain Male	brain
45	chr11:85742000-85747000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:85742000-85752000	Weak transcription	NHDF-Ad	bronchial
47	chr11:85742000-85752200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:85742200-85745400	Weak transcription	Primary T cells from cord blood	blood
49	chr11:85742200-85746200	Weak transcription	Left Ventricle	heart
50	chr11:85742200-85746200	Weak transcription	Right Atrium	heart

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