Variant report

Variant	rs12604963
Chromosome Location	chr18:43857547-43857548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43753733..43755578-chr18:43856070..43858581,2	K562	blood:
2	chr18:43852423..43855321-chr18:43855604..43858364,2	K562	blood:
3	chr18:43848661..43851599-chr18:43856427..43859027,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C18orf25-1	chr18:43857448-43859388	NONHSAT059131

Variant related genes	Relation type
ENSG00000152242	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11082518	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs11875115	0.83[ASN][1000 genomes]
rs12605275	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12605945	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs12607898	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs12709736	0.81[ASN][1000 genomes]
rs12953780	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12954967	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12962307	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs12963169	0.81[JPT][hapmap]
rs12963943	0.81[ASN][1000 genomes]
rs12965578	0.93[ASN][1000 genomes]
rs12969147	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs12970379	0.82[ASN][1000 genomes]
rs1626506	0.81[ASN][1000 genomes]
rs1632043	0.81[ASN][1000 genomes]
rs1658904	0.80[ASN][1000 genomes]
rs1658906	0.82[ASN][1000 genomes]
rs1658907	0.81[ASN][1000 genomes]
rs1658908	0.83[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap]
rs16978526	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16978530	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1791401	0.82[ASN][1000 genomes]
rs1791407	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1791408	0.82[ASN][1000 genomes]
rs1791410	0.82[ASN][1000 genomes]
rs1791412	0.82[ASN][1000 genomes]
rs1791413	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1791414	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1791421	0.81[ASN][1000 genomes]
rs1866322	0.85[JPT][hapmap]
rs35211836	0.82[ASN][1000 genomes]
rs3744858	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs4274509	0.83[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs4315430	0.82[ASN][1000 genomes]
rs4453596	0.86[JPT][hapmap]
rs4542747	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs4890321	0.83[ASN][1000 genomes]
rs4890628	0.81[ASN][1000 genomes]
rs4890629	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs4890632	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs6507667	0.81[ASN][1000 genomes]
rs6507675	0.88[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6507679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6507680	0.81[ASN][1000 genomes]
rs6507692	0.83[ASN][1000 genomes]
rs718513	0.80[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs7227847	0.81[ASN][1000 genomes]
rs7230905	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7231820	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7234695	0.83[JPT][hapmap]
rs7239351	0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs7240354	0.82[ASN][1000 genomes]
rs7241527	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs7241983	0.87[ASN][1000 genomes]
rs7242375	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7245091	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7506126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8084309	0.86[JPT][hapmap]
rs8085233	0.82[JPT][hapmap]
rs8086610	0.81[ASN][1000 genomes]
rs8086956	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs8090542	0.81[ASN][1000 genomes]
rs8094706	0.86[JPT][hapmap]
rs8095142	0.83[ASN][1000 genomes]
rs9944715	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs9945783	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs9946831	0.81[JPT][hapmap]
rs9947206	0.82[ASN][1000 genomes]
rs9949494	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs9952469	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs9959526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9967229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064031	chr18:43782309-43878806	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43831400-43863200	Weak transcription	Fetal Intestine Small	intestine
2	chr18:43841000-43861400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr18:43841000-43864200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr18:43841400-43858000	Weak transcription	HSMMtube	muscle
5	chr18:43841400-43858400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr18:43842200-43869800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr18:43843600-43858200	Weak transcription	K562	blood
8	chr18:43844000-43857600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr18:43844200-43861400	Weak transcription	Hela-S3	cervix
10	chr18:43844400-43857800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr18:43844600-43857800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr18:43844600-43857800	Weak transcription	Adipose Nuclei	Adipose
13	chr18:43844600-43858400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr18:43844800-43857600	Weak transcription	NH-A	brain
15	chr18:43845000-43861400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr18:43845600-43857600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:43845600-43858800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr18:43845600-43863000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr18:43845600-43863600	Weak transcription	Brain Anterior Caudate	brain
20	chr18:43845800-43857600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr18:43846000-43857800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr18:43846000-43857800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:43846000-43857800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr18:43846000-43857800	Weak transcription	HSMM	muscle
25	chr18:43846000-43858400	Weak transcription	Thymus	Thymus
26	chr18:43846600-43858000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr18:43847200-43863200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr18:43847800-43861200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr18:43848800-43857600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr18:43848800-43858000	Weak transcription	Lung	lung
31	chr18:43848800-43858400	Weak transcription	Primary B cells from cord blood	blood
32	chr18:43849000-43857600	Weak transcription	Spleen	Spleen
33	chr18:43849000-43858200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr18:43849000-43861200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr18:43849200-43857600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr18:43849400-43857800	Weak transcription	Psoas Muscle	Psoas
37	chr18:43849400-43858000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr18:43849400-43858000	Weak transcription	Fetal Muscle Leg	muscle
39	chr18:43849400-43858000	Weak transcription	Left Ventricle	heart
40	chr18:43849400-43858600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr18:43849400-43861400	Weak transcription	Liver	Liver
42	chr18:43849600-43857800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr18:43849600-43858200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr18:43850800-43858200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr18:43852200-43879000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr18:43853000-43877800	Weak transcription	Primary T cells from cord blood	blood
47	chr18:43853200-43857800	Weak transcription	Fetal Heart	heart
48	chr18:43854000-43857800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr18:43854200-43858000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr18:43854200-43858000	Weak transcription	NHEK	skin

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