Variant report

Variant	rs73199054
Chromosome Location	chr8:6380527-6380528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs17063434	0.86[EUR][1000 genomes]
rs17077313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1960369	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2442601	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2442611	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2442612	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2442613	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2442614	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2442615	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2442616	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2442617	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2442619	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2442621	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2442623	0.86[EUR][1000 genomes]
rs2442624	0.86[EUR][1000 genomes]
rs2442625	0.86[EUR][1000 genomes]
rs2442626	0.83[EUR][1000 genomes]
rs2442627	0.86[EUR][1000 genomes]
rs2442628	0.86[EUR][1000 genomes]
rs2515423	0.86[EUR][1000 genomes]
rs2515425	0.86[EUR][1000 genomes]
rs2515426	0.86[EUR][1000 genomes]
rs2515427	0.86[EUR][1000 genomes]
rs2515428	0.86[EUR][1000 genomes]
rs2515429	0.86[EUR][1000 genomes]
rs2515430	0.83[EUR][1000 genomes]
rs2515433	0.86[EUR][1000 genomes]
rs2515434	0.86[EUR][1000 genomes]
rs2515436	0.86[EUR][1000 genomes]
rs2515437	0.86[EUR][1000 genomes]
rs2515438	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2515439	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2515442	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2515443	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2515444	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2515445	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2515448	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515449	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515450	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515451	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515452	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515454	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515456	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515457	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515458	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515459	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515460	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515461	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515463	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515467	0.98[EUR][1000 genomes]
rs2515468	0.93[EUR][1000 genomes]
rs2922891	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2922898	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3020222	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3020223	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73199047	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73199048	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73199051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs963495	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs963496	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv890057	chr8:6317165-6427868	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv1022895	chr8:6355213-6414874	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv933260	chr8:6357124-6410013	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	esv3434139	chr8:6380359-6380577	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6338800-6389600	Weak transcription	HSMMtube	muscle
2	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr8:6345800-6402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:6346200-6386000	Weak transcription	NH-A	brain
5	chr8:6352400-6391400	Weak transcription	Ovary	ovary
6	chr8:6357800-6391400	Weak transcription	Colonic Mucosa	Colon
7	chr8:6359200-6389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:6360400-6386200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:6360800-6383800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:6361200-6380800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:6361200-6386000	Weak transcription	Fetal Intestine Large	intestine
12	chr8:6364200-6417200	Weak transcription	Fetal Kidney	kidney
13	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:6366800-6389800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:6367200-6417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:6367400-6389200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:6368800-6392200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:6370200-6381400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:6370200-6383400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:6370200-6400800	Weak transcription	Fetal Intestine Small	intestine
21	chr8:6370400-6382600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:6370400-6383800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:6370400-6386000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:6370400-6389200	Weak transcription	Osteobl	bone
25	chr8:6370400-6391200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:6370400-6400200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:6370400-6402600	Weak transcription	GM12878-XiMat	blood
28	chr8:6370400-6403000	Weak transcription	Primary B cells from cord blood	blood
29	chr8:6370400-6405000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:6373200-6390200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:6373600-6386000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:6373600-6386200	Weak transcription	Primary T cells from cord blood	blood
33	chr8:6373600-6391400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:6373600-6420200	Weak transcription	Esophagus	oesophagus
35	chr8:6373800-6390800	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:6374800-6382000	Weak transcription	Adipose Nuclei	Adipose
37	chr8:6374800-6390400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:6374800-6408800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:6375000-6388400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:6375200-6404400	Weak transcription	NHEK	skin
41	chr8:6375400-6384600	Weak transcription	Liver	Liver
42	chr8:6375800-6386200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:6377000-6386000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:6377000-6398200	Weak transcription	Spleen	Spleen
45	chr8:6377200-6386000	Weak transcription	Pancreas	Pancrea
46	chr8:6377400-6386000	Weak transcription	Dnd41	blood
47	chr8:6377400-6388200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:6377400-6388800	Weak transcription	Right Ventricle	heart
49	chr8:6377400-6389800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:6377400-6396000	Weak transcription	Aorta	Aorta

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