Variant report

Variant	rs59867698
Chromosome Location	chr17:18173517-18173518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:18168768..18172845-chr17:18173287..18176443,4	K562	blood:
2	chr17:18162324..18166976-chr17:18172867..18175453,4	K562	blood:

Variant related genes	Relation type
ENSG00000177427	Chromatin interaction
ENSG00000260647	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs17855350	1.00[EUR][1000 genomes]
rs28694704	1.00[EUR][1000 genomes]
rs56109231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56180580	1.00[EUR][1000 genomes]
rs56735648	1.00[EUR][1000 genomes]
rs56793258	1.00[EUR][1000 genomes]
rs58115308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58499955	1.00[EUR][1000 genomes]
rs59738176	1.00[EUR][1000 genomes]
rs60320587	1.00[EUR][1000 genomes]
rs60510653	1.00[EUR][1000 genomes]
rs60699593	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60708953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60814048	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61361031	1.00[EUR][1000 genomes]
rs61576260	1.00[EUR][1000 genomes]
rs7207131	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7207489	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7213472	1.00[EUR][1000 genomes]
rs7213789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7219191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7226015	1.00[EUR][1000 genomes]
rs73288279	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288297	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288302	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73289913	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73980805	1.00[EUR][1000 genomes]
rs8064901	1.00[EUR][1000 genomes]
rs8068530	1.00[EUR][1000 genomes]
rs8069012	1.00[EUR][1000 genomes]
rs8071028	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8071911	1.00[EUR][1000 genomes]
rs8074322	1.00[EUR][1000 genomes]
rs8080816	1.00[EUR][1000 genomes]
rs8082574	1.00[AMR][1000 genomes]
rs9910599	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats 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 miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	nsv907773	chr17:18099962-18206234	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv907774	chr17:18103907-18206234	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv907775	chr17:18108496-18206234	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1066718	chr17:18125122-18180807	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv833386	chr17:18170261-18332726	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv1057081	chr17:18171516-18256347	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv543247	chr17:18171516-18256347	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18165000-18176600	Weak transcription	HUVEC	blood vessel
2	chr17:18165200-18175400	Weak transcription	Fetal Kidney	kidney
3	chr17:18165200-18176400	Weak transcription	K562	blood
4	chr17:18165400-18177600	Weak transcription	Small Intestine	intestine
5	chr17:18165600-18181400	Weak transcription	Psoas Muscle	Psoas
6	chr17:18165800-18175800	Weak transcription	GM12878-XiMat	blood
7	chr17:18165800-18182800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:18166000-18173600	Weak transcription	Hela-S3	cervix
9	chr17:18166000-18179600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:18166000-18183800	Weak transcription	Fetal Brain Male	brain
11	chr17:18166200-18183600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:18166400-18182600	Strong transcription	Fetal Brain Female	brain
13	chr17:18167000-18188200	Weak transcription	Stomach Mucosa	stomach
14	chr17:18168800-18173600	Weak transcription	A549	lung
15	chr17:18168800-18174000	Weak transcription	Dnd41	blood
16	chr17:18168800-18176400	Weak transcription	Primary B cells from cord blood	blood
17	chr17:18168800-18177600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr17:18168800-18179200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr17:18168800-18179400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr17:18168800-18183200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr17:18169000-18173600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr17:18169000-18174800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:18169000-18174800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr17:18169000-18175800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr17:18169000-18176200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr17:18169000-18176200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr17:18169000-18176200	Weak transcription	Brain Substantia Nigra	brain
28	chr17:18169000-18176400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr17:18169000-18176400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr17:18169000-18176400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr17:18169000-18176600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr17:18169000-18176600	Weak transcription	HepG2	liver
33	chr17:18169000-18176600	Weak transcription	HSMMtube	muscle
34	chr17:18169000-18177600	Weak transcription	Aorta	Aorta
35	chr17:18169000-18177600	Weak transcription	Esophagus	oesophagus
36	chr17:18169000-18177600	Weak transcription	Gastric	stomach
37	chr17:18169000-18177600	Weak transcription	Ovary	ovary
38	chr17:18169000-18177600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr17:18169000-18177600	Weak transcription	Right Ventricle	heart
40	chr17:18169000-18181200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr17:18169200-18174800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr17:18169200-18175600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:18169200-18175800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr17:18169200-18176200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:18169200-18176200	Weak transcription	Colonic Mucosa	Colon
46	chr17:18169200-18176400	Weak transcription	Adipose Nuclei	Adipose
47	chr17:18169200-18176400	Weak transcription	Liver	Liver
48	chr17:18169200-18176400	Weak transcription	Brain Angular Gyrus	brain
49	chr17:18169200-18176400	Weak transcription	Fetal Intestine Large	intestine
50	chr17:18169200-18176400	Weak transcription	Rectal Mucosa Donor 29	rectum

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