Variant report

Variant	rs61693609
Chromosome Location	chr11:46398208-46398209
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	chr11:46397095-46398622	K562	blood:	n/a	n/a
2	POLR2A	chr11:46398087-46398259	K562	blood:	n/a	n/a
3	POLR2A	chr11:46397953-46398587	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:46367411..46370383-chr11:46395468..46399934,4	K562	blood:
2	chr11:46393877..46398500-chr11:46401419..46405642,6	MCF-7	breast:
3	chr11:46259601..46262600-chr11:46396117..46399053,2	K562	blood:
4	chr10:35624220..35626742-chr11:46396388..46399236,2	MCF-7	breast:

Variant related genes	Relation type
DGKZ	TF binding region
MDK	TF binding region
ENSG00000271335	Chromatin interaction
ENSG00000254639	Chromatin interaction
ENSG00000108100	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000149091	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10734546	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1489190	1.00[AMR][1000 genomes]
rs1812657	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1873129	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2029378	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2046766	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2046767	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2087360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2087361	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2864071	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34217002	1.00[AMR][1000 genomes]
rs34444424	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35267642	1.00[AMR][1000 genomes]
rs35715394	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35935319	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4367921	1.00[AMR][1000 genomes]
rs4376875	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4433539	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4508179	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4550197	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56991558	1.00[AMR][1000 genomes]
rs58314136	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58770070	1.00[AMR][1000 genomes]
rs60162610	1.00[AMR][1000 genomes]
rs61451984	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61514976	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485681	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73464080	1.00[AMR][1000 genomes]
rs73466031	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466069	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466088	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466094	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466095	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466099	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467917	1.00[AMR][1000 genomes]
rs73467919	1.00[AMR][1000 genomes]
rs73467920	1.00[AMR][1000 genomes]
rs73467936	1.00[AMR][1000 genomes]
rs73467938	1.00[AMR][1000 genomes]
rs73467941	1.00[AMR][1000 genomes]
rs73467944	1.00[AMR][1000 genomes]
rs73467950	1.00[AMR][1000 genomes]
rs73467963	1.00[AMR][1000 genomes]
rs7924437	0.86[AFR][1000 genomes]
rs7924695	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7928869	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs967754	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
8	nsv897318	chr11:46388220-46417815	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv897319	chr11:46396479-46417815	Genic enhancers Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46383600-46402000	Weak transcription	Fetal Brain Male	brain
2	chr11:46385200-46400600	Strong transcription	Thymus	Thymus
3	chr11:46385400-46401200	Strong transcription	Dnd41	blood
4	chr11:46386000-46402200	Weak transcription	NHDF-Ad	bronchial
5	chr11:46387200-46399200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:46388600-46400200	Strong transcription	Gastric	stomach
7	chr11:46388800-46400600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:46389000-46399600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:46389000-46399600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:46389000-46402000	Weak transcription	Right Atrium	heart
11	chr11:46389400-46400200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:46389400-46400400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr11:46389400-46401400	Strong transcription	Primary T cells from cord blood	blood
14	chr11:46389600-46398400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
15	chr11:46389600-46399200	Strong transcription	Right Ventricle	heart
16	chr11:46389600-46399800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:46389600-46400200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:46389600-46400200	Strong transcription	Liver	Liver
19	chr11:46389600-46400200	Strong transcription	Left Ventricle	heart
20	chr11:46389600-46400200	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:46389600-46400400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:46389600-46400400	Strong transcription	Adipose Nuclei	Adipose
23	chr11:46389600-46400400	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr11:46389600-46401200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:46389600-46401800	Weak transcription	Stomach Mucosa	stomach
26	chr11:46389800-46400000	Strong transcription	Pancreas	Pancrea
27	chr11:46389800-46400200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:46389800-46400200	Strong transcription	Brain Cingulate Gyrus	brain
29	chr11:46389800-46400600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:46389800-46401000	Strong transcription	Fetal Thymus	thymus
31	chr11:46390000-46399600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:46390000-46400000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:46390200-46400000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:46390200-46400400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:46390200-46401200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:46390800-46399000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:46391000-46399800	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:46391000-46402000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr11:46391200-46400400	Strong transcription	Fetal Brain Female	brain
40	chr11:46391400-46400400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:46391400-46400600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:46391400-46402200	Weak transcription	NH-A	brain
43	chr11:46391600-46399400	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr11:46391600-46399800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:46391600-46400200	Strong transcription	Brain Germinal Matrix	brain
46	chr11:46391600-46400200	Strong transcription	NHLF	lung
47	chr11:46391600-46400400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:46391600-46400600	Weak transcription	Hela-S3	cervix
49	chr11:46391600-46400800	Weak transcription	K562	blood
50	chr11:46391800-46399800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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