Variant report

Variant	rs61889552
Chromosome Location	chr11:67042688-67042689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67041841-67058702	HL-60	blood:	n/a	n/a
2	ZBTB7A	chr11:67042658-67042878	K562	blood:	n/a	n/a
3	POLR2A	chr11:67042669-67042822	ProgFib	skin:	n/a	n/a
4	POLR2A	chr11:67042321-67044001	K562	blood:	n/a	n/a
5	POLR2A	chr11:67042560-67042987	GM12892	blood:	n/a	n/a
6	MAX	chr11:67042469-67042780	K562	blood:	n/a	n/a
7	POLR2A	chr11:67042261-67042902	GM12892	blood:	n/a	n/a
8	POLR2A	chr11:67041711-67058704	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67041964..67046049-chr11:67065840..67069328,4	K562	blood:
2	chr11:67040558..67045868-chr11:67119770..67124610,5	K562	blood:
3	chr11:67042036..67043663-chr11:67129940..67132127,2	K562	blood:

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000172932	Chromatin interaction
ENSG00000175482	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10896161	0.84[EUR][1000 genomes]
rs10896165	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227696	0.87[AMR][1000 genomes]
rs11227718	0.87[AMR][1000 genomes]
rs11227720	0.87[AMR][1000 genomes]
rs11227722	0.87[AMR][1000 genomes]
rs11227732	0.84[EUR][1000 genomes]
rs11227740	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227742	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227744	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227745	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227746	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227750	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227751	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227752	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227761	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227765	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227768	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227770	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227786	0.81[ASN][1000 genomes]
rs11227787	0.81[ASN][1000 genomes]
rs12223898	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12274774	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282264	0.84[EUR][1000 genomes]
rs3730145	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3892143	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56132056	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58100805	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61758503	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61758508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889551	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891340	0.87[AMR][1000 genomes]
rs61891343	0.87[AMR][1000 genomes]
rs61891586	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61891588	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61891589	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61891590	0.86[ASN][1000 genomes]
rs61891592	0.83[ASN][1000 genomes]
rs7127431	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9630209	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
9	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
11	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67035400-67044400	Weak transcription	A549	lung
2	chr11:67035600-67046400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr11:67035800-67044600	Enhancers	Left Ventricle	heart
4	chr11:67037200-67055800	Genic enhancers	Spleen	Spleen
5	chr11:67037800-67044600	Enhancers	Liver	Liver
6	chr11:67037800-67046200	Enhancers	Stomach Mucosa	stomach
7	chr11:67037800-67046800	Weak transcription	Aorta	Aorta
8	chr11:67038200-67042800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:67038200-67055200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:67038400-67044200	Genic enhancers	Fetal Muscle Leg	muscle
11	chr11:67038400-67044800	Genic enhancers	Fetal Stomach	stomach
12	chr11:67038400-67045800	Genic enhancers	Fetal Intestine Small	intestine
13	chr11:67038400-67047000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:67038600-67044200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:67038600-67044600	Enhancers	Right Atrium	heart
16	chr11:67038800-67044200	Genic enhancers	Fetal Muscle Trunk	muscle
17	chr11:67038800-67044600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:67039000-67042800	Enhancers	Psoas Muscle	Psoas
19	chr11:67039000-67043400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:67039000-67044800	Enhancers	Brain Anterior Caudate	brain
21	chr11:67039200-67043400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:67039200-67043800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:67039200-67044200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:67039200-67044200	Weak transcription	Fetal Kidney	kidney
25	chr11:67039200-67044600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:67039400-67043400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:67039400-67044200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:67039600-67044200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:67039600-67044400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:67039800-67044400	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr11:67040000-67043600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:67040000-67043600	Weak transcription	Fetal Brain Male	brain
33	chr11:67040200-67044200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:67040200-67044200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr11:67040400-67042800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:67040400-67044000	Genic enhancers	Thymus	Thymus
37	chr11:67040400-67044200	Genic enhancers	Fetal Thymus	thymus
38	chr11:67040600-67043600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:67040600-67044000	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr11:67040800-67043000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr11:67040800-67043200	Genic enhancers	Dnd41	blood
42	chr11:67040800-67043800	Genic enhancers	Rectal Mucosa Donor 29	rectum
43	chr11:67040800-67044400	Enhancers	Colon Smooth Muscle	Colon
44	chr11:67040800-67044600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:67040800-67044600	Enhancers	HUVEC	blood vessel
46	chr11:67040800-67045400	Enhancers	Placenta	Placenta
47	chr11:67041000-67043000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr11:67041000-67044000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:67041000-67044600	Enhancers	Right Ventricle	heart
50	chr11:67041200-67044600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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