Variant report

Variant	rs16846418
Chromosome Location	chr1:173768826-173768827
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173767085..173770126-chr1:173792491..173795872,3	K562	blood:
2	chr1:173751792..173753344-chr1:173767875..173770215,2	MCF-7	breast:
3	chr1:173767822..173770126-chr1:173792491..173794716,2	K562	blood:
4	chr1:173765402..173769315-chr1:173795358..173797976,3	K562	blood:

Variant related genes	Relation type
ENSG00000120334	Chromatin interaction
ENSG00000117593	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16846433	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16846478	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16846526	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16846546	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16846561	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2065170	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2068871	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2146372	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2227589	0.83[EUR][1000 genomes]
rs2227592	0.83[EUR][1000 genomes]
rs2235095	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2759328	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3791021	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3791022	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57022387	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58977252	0.86[AFR][1000 genomes]
rs58994962	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61262741	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61649485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6656255	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6696381	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6790	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs941988	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9970048	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active 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	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173729800-173781800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:173735800-173781000	Weak transcription	Small Intestine	intestine
3	chr1:173736600-173792400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:173744800-173790200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:173745000-173792400	Weak transcription	Psoas Muscle	Psoas
6	chr1:173747800-173769200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:173749200-173792600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:173749800-173777800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:173751200-173773600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:173751400-173769000	Weak transcription	Fetal Intestine Small	intestine
11	chr1:173751400-173792200	Weak transcription	Fetal Kidney	kidney
12	chr1:173751800-173774600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:173752600-173790000	Weak transcription	HepG2	liver
14	chr1:173752800-173771800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:173752800-173777000	Weak transcription	Brain Angular Gyrus	brain
16	chr1:173753200-173774400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:173753200-173792200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:173753200-173792800	Weak transcription	Esophagus	oesophagus
19	chr1:173753400-173772200	Weak transcription	Aorta	Aorta
20	chr1:173753400-173774400	Weak transcription	Ovary	ovary
21	chr1:173753400-173775000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:173753400-173787800	Weak transcription	Right Ventricle	heart
23	chr1:173753400-173792600	Weak transcription	Spleen	Spleen
24	chr1:173753400-173792800	Weak transcription	Gastric	stomach
25	chr1:173753400-173792800	Weak transcription	Pancreas	Pancrea
26	chr1:173753600-173787600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:173753600-173792600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:173754000-173774400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:173754000-173774600	Weak transcription	Brain Anterior Caudate	brain
30	chr1:173754200-173792200	Weak transcription	Fetal Brain Female	brain
31	chr1:173754400-173774800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:173754400-173782200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:173754400-173786000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:173754400-173792600	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:173755000-173772200	Weak transcription	Left Ventricle	heart
36	chr1:173755200-173791600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:173755400-173769200	Weak transcription	Primary B cells from cord blood	blood
38	chr1:173755400-173772000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:173755400-173772000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:173755400-173772000	Weak transcription	Fetal Lung	lung
41	chr1:173755400-173772600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:173755400-173774800	Weak transcription	NHLF	lung
43	chr1:173755400-173783200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:173755400-173787400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:173755400-173787400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:173755400-173792200	Weak transcription	HSMMtube	muscle
47	chr1:173755400-173792600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:173756800-173783400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:173756800-173791800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:173757200-173769000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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