Variant report

Variant	rs1670538
Chromosome Location	chr11:73538258-73538259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73531866..73534738-chr11:73536953..73538910,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1466218	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1531001	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1598044	0.89[AFR][1000 genomes]
rs1618529	0.89[AFR][1000 genomes]
rs1623476	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1670553	0.89[AFR][1000 genomes]
rs1670555	0.91[AFR][1000 genomes]
rs1670560	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1670561	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1670571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1670574	0.93[AFR][1000 genomes]
rs17244671	0.91[EUR][1000 genomes]
rs17310409	0.93[EUR][1000 genomes]
rs1792157	0.89[AFR][1000 genomes]
rs1792164	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792186	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1792189	0.91[AFR][1000 genomes]
rs1792194	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792197	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1792202	0.93[AFR][1000 genomes]
rs2444602	0.93[AFR][1000 genomes]
rs2511262	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2511269	0.83[AFR][1000 genomes]
rs2511273	0.82[AFR][1000 genomes]
rs2511275	0.89[AFR][1000 genomes]
rs2515091	0.90[AFR][1000 genomes]
rs2515095	0.93[AFR][1000 genomes]
rs2886812	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2924504	0.96[AFR][1000 genomes]
rs3019137	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35133035	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs627627	0.96[AFR][1000 genomes]
rs651833	0.96[AFR][1000 genomes]
rs7480464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs935989	0.86[AFR][1000 genomes]
rs9651759	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][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	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS 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 target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73549600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
3	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
4	chr11:73500400-73542200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
6	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
7	chr11:73500600-73538800	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:73500600-73549200	Weak transcription	Osteobl	bone
9	chr11:73500600-73553800	Weak transcription	Fetal Lung	lung
10	chr11:73500800-73558800	Weak transcription	NHEK	skin
11	chr11:73503600-73541200	Weak transcription	GM12878-XiMat	blood
12	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
13	chr11:73508800-73541400	Weak transcription	Esophagus	oesophagus
14	chr11:73508800-73565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
16	chr11:73508800-73575400	Weak transcription	Gastric	stomach
17	chr11:73509000-73539400	Weak transcription	Ovary	ovary
18	chr11:73509000-73549400	Weak transcription	Brain Substantia Nigra	brain
19	chr11:73509000-73549600	Weak transcription	Brain Angular Gyrus	brain
20	chr11:73509000-73553200	Weak transcription	Lung	lung
21	chr11:73509200-73538400	Weak transcription	Brain Anterior Caudate	brain
22	chr11:73509600-73541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:73516000-73553200	Weak transcription	HepG2	liver
24	chr11:73517000-73562800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr11:73517000-73565200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:73517600-73549400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:73518200-73541000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:73518400-73541000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
30	chr11:73519400-73540400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:73519600-73538400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:73519600-73538600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr11:73521000-73538400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:73522000-73538600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:73522400-73549400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:73522400-73549400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:73523800-73538800	Weak transcription	K562	blood
38	chr11:73525600-73549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:73529800-73538600	Weak transcription	Left Ventricle	heart
40	chr11:73529800-73549200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:73530000-73549600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:73530200-73538600	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:73530200-73538800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:73530200-73540400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:73530200-73541400	Weak transcription	HUVEC	blood vessel
46	chr11:73530200-73542000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:73530400-73549400	Weak transcription	HSMM	muscle
48	chr11:73530600-73539200	Weak transcription	NHDF-Ad	bronchial
49	chr11:73530600-73549200	Weak transcription	NH-A	brain
50	chr11:73530600-73549400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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