Variant report

Variant	rs17598816
Chromosome Location	chr14:35843304-35843305
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	chr14:35833474..35838463-chr14:35839143..35843538,8	K562	blood:
2	chr14:35833202..35845291-chr14:35869974..35876968,23	K562	blood:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11845412	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17457389	1.00[AFR][1000 genomes]
rs17457568	1.00[AFR][1000 genomes]
rs17458137	1.00[AFR][1000 genomes]
rs17458214	1.00[AFR][1000 genomes]
rs17458367	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17458562	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17458715	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17512725	0.85[EUR][1000 genomes]
rs17513024	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17535082	1.00[AFR][1000 genomes]
rs17536892	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17536948	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17537213	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17537248	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17597246	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17597667	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17598437	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17598701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2057336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2057339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4982256	0.92[EUR][1000 genomes]
rs6571711	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7150752	0.81[EUR][1000 genomes]
rs7151763	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7156874	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs8015909	0.90[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	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
3	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
4	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35821600-35843800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:35837000-35843400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:35837400-35852400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:35838400-35843600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:35838600-35843600	Weak transcription	NH-A	brain
6	chr14:35838600-35843800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:35838800-35847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:35839000-35843400	Weak transcription	NHDF-Ad	bronchial
9	chr14:35839000-35843800	Weak transcription	Brain Anterior Caudate	brain
10	chr14:35839200-35843800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:35839600-35843600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:35839600-35845000	Weak transcription	Spleen	Spleen
13	chr14:35839600-35852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr14:35839800-35843400	Weak transcription	HUVEC	blood vessel
15	chr14:35839800-35843400	Weak transcription	K562	blood
16	chr14:35840000-35843800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:35840200-35845000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:35840400-35843800	Weak transcription	HMEC	breast
19	chr14:35841600-35843400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:35841600-35853000	Weak transcription	Right Atrium	heart
21	chr14:35841800-35843600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr14:35841800-35845000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:35842000-35843600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr14:35842000-35846000	Enhancers	Placenta	Placenta
25	chr14:35842200-35843400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:35842200-35843400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:35842200-35843600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:35842400-35843400	Weak transcription	HepG2	liver
29	chr14:35842400-35845000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:35842400-35845000	Weak transcription	Lung	lung
31	chr14:35843000-35846000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr14:35843200-35843400	Enhancers	Fetal Thymus	thymus
33	chr14:35843200-35844000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:35843200-35844000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:35843200-35844000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr14:35843200-35844000	Enhancers	Fetal Intestine Small	intestine
37	chr14:35843200-35844000	Flanking Active TSS	A549	lung
38	chr14:35843200-35844200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:35843200-35844200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr14:35843200-35844200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:35843200-35844200	Enhancers	Adipose Nuclei	Adipose
42	chr14:35843200-35844200	Enhancers	NHEK	skin
43	chr14:35843200-35844200	Enhancers	Osteobl	bone
44	chr14:35843200-35850000	Enhancers	Hela-S3	cervix

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