Variant report

Variant	rs17531068
Chromosome Location	chr5:96331031-96331032
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	chr5:96323172..96325387-chr5:96328934..96331521,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10491385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10491386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10515253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1057808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17407513	1.00[AFR][1000 genomes]
rs17407871	1.00[AFR][1000 genomes]
rs17407899	1.00[AFR][1000 genomes]
rs17408150	1.00[AFR][1000 genomes]
rs17409040	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17446635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17446755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17446769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17446837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17446907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17446949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17486181	1.00[AFR][1000 genomes]
rs17486481	1.00[AFR][1000 genomes]
rs17486509	1.00[AFR][1000 genomes]
rs17486775	1.00[AFR][1000 genomes]
rs17486915	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17487132	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17487596	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17531164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17531192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17531213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17531366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17628359	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17684739	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3797797	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs41276275	1.00[AFR][1000 genomes]
rs41276279	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55658367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55746248	1.00[AFR][1000 genomes]
rs55767008	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs55769558	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55870170	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56002769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56003936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56009267	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56071818	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs56078010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7719293	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96304600-96335600	Weak transcription	Stomach Mucosa	stomach
2	chr5:96304800-96346600	Weak transcription	Lung	lung
3	chr5:96304800-96359600	Weak transcription	Hela-S3	cervix
4	chr5:96305400-96334200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:96313400-96342600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:96313400-96342600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:96314000-96360200	Weak transcription	Fetal Brain Male	brain
8	chr5:96314200-96343600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr5:96314200-96344000	Strong transcription	Primary B cells from cord blood	blood
10	chr5:96314200-96347600	Strong transcription	Fetal Thymus	thymus
11	chr5:96314400-96343800	Strong transcription	Dnd41	blood
12	chr5:96314800-96343200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr5:96314800-96343800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:96315400-96374800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:96315600-96335600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:96315600-96353400	Weak transcription	Pancreas	Pancrea
17	chr5:96315600-96358600	Weak transcription	Brain Substantia Nigra	brain
18	chr5:96316000-96338400	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:96316000-96360000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:96316200-96335800	Weak transcription	NHLF	lung
21	chr5:96316400-96333600	Weak transcription	HUVEC	blood vessel
22	chr5:96316400-96336000	Weak transcription	Colonic Mucosa	Colon
23	chr5:96316400-96346600	Weak transcription	NH-A	brain
24	chr5:96317200-96332600	Strong transcription	GM12878-XiMat	blood
25	chr5:96317400-96334400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:96319800-96331600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr5:96320000-96357600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:96320800-96332200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr5:96321000-96331200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:96321000-96332200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:96321000-96335200	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:96321000-96336200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr5:96321200-96344600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:96321600-96344800	Weak transcription	Small Intestine	intestine
35	chr5:96322200-96348600	Weak transcription	Fetal Kidney	kidney
36	chr5:96322200-96349800	Weak transcription	Psoas Muscle	Psoas
37	chr5:96322400-96333400	Weak transcription	NHDF-Ad	bronchial
38	chr5:96322400-96336000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr5:96322400-96336200	Weak transcription	K562	blood
40	chr5:96322400-96353600	Weak transcription	Right Ventricle	heart
41	chr5:96322400-96358600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:96322400-96359600	Weak transcription	Gastric	stomach
43	chr5:96322600-96333800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:96323200-96332200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr5:96323800-96342200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:96324200-96334000	Weak transcription	HMEC	breast
47	chr5:96324600-96331200	Weak transcription	Fetal Intestine Small	intestine
48	chr5:96325600-96331600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr5:96325600-96331800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr5:96325600-96332200	Strong transcription	Primary T cells from cord blood	blood

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