Variant report

Variant	rs17446755
Chromosome Location	chr5:96352494-96352495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96270896..96272732-chr5:96350755..96352913,2	K562	blood:
2	chr5:96351534..96353188-chr5:96493803..96496020,2	K562	blood:
3	chr5:96344374..96348016-chr5:96348687..96353038,8	K562	blood:

Variant related genes	Relation type
ENSG00000113441	Chromatin interaction
ENSG00000247121	Chromatin interaction

Extended variants
information (count: 48 )
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]
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]
rs17531068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:6 , 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	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
5	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
6	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	chr5:96304800-96359600	Weak transcription	Hela-S3	cervix
2	chr5:96314000-96360200	Weak transcription	Fetal Brain Male	brain
3	chr5:96315400-96374800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:96315600-96353400	Weak transcription	Pancreas	Pancrea
5	chr5:96315600-96358600	Weak transcription	Brain Substantia Nigra	brain
6	chr5:96316000-96360000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:96320000-96357600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:96322400-96353600	Weak transcription	Right Ventricle	heart
9	chr5:96322400-96358600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:96322400-96359600	Weak transcription	Gastric	stomach
11	chr5:96329800-96358800	Weak transcription	Brain Germinal Matrix	brain
12	chr5:96330000-96359800	Weak transcription	Aorta	Aorta
13	chr5:96330400-96359400	Weak transcription	Fetal Brain Female	brain
14	chr5:96330600-96353600	Weak transcription	Esophagus	oesophagus
15	chr5:96331600-96356200	Weak transcription	Fetal Stomach	stomach
16	chr5:96331600-96357800	Weak transcription	Spleen	Spleen
17	chr5:96333600-96374000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:96333800-96372800	Strong transcription	Placenta	Placenta
19	chr5:96335800-96359600	Weak transcription	Stomach Mucosa	stomach
20	chr5:96336200-96357800	Weak transcription	Fetal Intestine Small	intestine
21	chr5:96336600-96355400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:96336600-96359400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:96336600-96359400	Weak transcription	Colonic Mucosa	Colon
24	chr5:96336800-96355200	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:96337600-96355200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:96340600-96359800	Weak transcription	NHDF-Ad	bronchial
27	chr5:96340800-96359800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:96341000-96358800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:96342600-96374400	Weak transcription	HepG2	liver
30	chr5:96342800-96358600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:96343000-96354400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:96343000-96355400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:96343000-96359000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:96343200-96355800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:96343200-96360000	Weak transcription	Brain Angular Gyrus	brain
36	chr5:96344800-96356000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:96344800-96356200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr5:96345400-96353600	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:96345400-96355200	Weak transcription	Fetal Heart	heart
40	chr5:96345400-96357800	Strong transcription	Dnd41	blood
41	chr5:96345600-96358800	Weak transcription	Small Intestine	intestine
42	chr5:96345800-96357600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:96345800-96359600	Weak transcription	K562	blood
44	chr5:96346000-96357600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr5:96346400-96356800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr5:96346400-96357400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr5:96346600-96356200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:96346600-96356600	Strong transcription	Primary T cells from cord blood	blood
49	chr5:96346600-96356800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:96346600-96357000	Strong transcription	Adipose Nuclei	Adipose

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