Variant report

Variant	rs73429610
Chromosome Location	chr11:4008667-4008668
allele	G/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	FOXA1	chr11:4008638-4009002	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4003558..4006551-chr11:4007203..4009019,2	K562	blood:

Variant related genes	Relation type
STIM1	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs55687658	0.86[AFR][1000 genomes]
rs56167289	0.83[AFR][1000 genomes]
rs58280202	0.87[AFR][1000 genomes]
rs73425479	0.83[AFR][1000 genomes]
rs73425485	0.91[AFR][1000 genomes]
rs73427515	0.91[AFR][1000 genomes]
rs73427533	0.91[AFR][1000 genomes]
rs73427551	0.86[AFR][1000 genomes]
rs73427553	1.00[AFR][1000 genomes]
rs73427554	1.00[AFR][1000 genomes]
rs73427559	1.00[AFR][1000 genomes]
rs73429606	1.00[AFR][1000 genomes]
rs73429613	0.95[AFR][1000 genomes]
rs73429636	0.86[AFR][1000 genomes]
rs74051576	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3984000-4010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr11:3987000-4010400	Weak transcription	Fetal Intestine Small	intestine
3	chr11:3989400-4010600	Weak transcription	Spleen	Spleen
4	chr11:3989400-4031000	Weak transcription	Aorta	Aorta
5	chr11:3994400-4016600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:3998600-4008800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr11:4000600-4010800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:4001400-4011800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:4002600-4009600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr11:4003000-4010600	Weak transcription	Esophagus	oesophagus
11	chr11:4003200-4016600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:4004400-4009400	Enhancers	Psoas Muscle	Psoas
13	chr11:4004400-4009600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr11:4004600-4010600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:4004800-4010000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:4005000-4010200	Weak transcription	Dnd41	blood
17	chr11:4005400-4011800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:4005800-4010800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr11:4006000-4009000	Strong transcription	Primary B cells from cord blood	blood
20	chr11:4006000-4009400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:4006200-4010400	Weak transcription	Brain Anterior Caudate	brain
22	chr11:4006200-4013800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr11:4006400-4016600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:4006600-4009400	Enhancers	Liver	Liver
25	chr11:4006800-4022600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:4007000-4009000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:4007000-4009200	Weak transcription	Ovary	ovary
28	chr11:4007000-4010400	Weak transcription	Fetal Muscle Leg	muscle
29	chr11:4007000-4010600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:4007000-4010600	Weak transcription	Fetal Thymus	thymus
31	chr11:4007000-4010600	Weak transcription	Left Ventricle	heart
32	chr11:4007000-4010800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:4007000-4011200	Weak transcription	K562	blood
34	chr11:4007000-4012600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:4007200-4008800	Weak transcription	Fetal Stomach	stomach
36	chr11:4007200-4010400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr11:4007200-4010400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:4007200-4010400	Weak transcription	Thymus	Thymus
39	chr11:4007200-4010600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:4007200-4013800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr11:4007200-4014000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:4007600-4010400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:4007600-4010400	Weak transcription	Fetal Brain Female	brain
44	chr11:4007600-4010400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:4007600-4010600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr11:4007800-4008800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:4007800-4010400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:4007800-4015000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:4008000-4009200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr11:4008000-4009600	Enhancers	HepG2	liver

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