Variant report

Variant	rs3819124
Chromosome Location	chr18:44427017-44427018
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44421049..44423857-chr18:44426853..44428509,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12454431	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12454599	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12454951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12455289	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12458820	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1434530	1.00[ASW][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.85[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16940131	0.90[YRI][hapmap]
rs16940133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16948713	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2276165	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];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3826586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6507721	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7230545	1.00[CEU][hapmap]
rs7236545	1.00[GIH][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7237316	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8092951	0.90[YRI][hapmap]
rs8096561	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44381400-44433000	Weak transcription	Gastric	stomach
2	chr18:44382200-44437000	Weak transcription	Right Ventricle	heart
3	chr18:44391000-44432400	Weak transcription	Fetal Stomach	stomach
4	chr18:44391800-44448400	Weak transcription	Pancreas	Pancrea
5	chr18:44392600-44431400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr18:44392600-44447800	Weak transcription	Esophagus	oesophagus
7	chr18:44393200-44433800	Weak transcription	Colonic Mucosa	Colon
8	chr18:44394400-44434000	Weak transcription	Fetal Kidney	kidney
9	chr18:44394800-44437800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:44397000-44441200	Weak transcription	Hela-S3	cervix
11	chr18:44399200-44434000	Weak transcription	Fetal Brain Female	brain
12	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr18:44399600-44434400	Weak transcription	Fetal Intestine Small	intestine
14	chr18:44399600-44437600	Weak transcription	Small Intestine	intestine
15	chr18:44400000-44448200	Weak transcription	Spleen	Spleen
16	chr18:44401200-44432200	Weak transcription	Fetal Intestine Large	intestine
17	chr18:44401400-44436600	Weak transcription	Psoas Muscle	Psoas
18	chr18:44401400-44437600	Weak transcription	HMEC	breast
19	chr18:44402000-44440800	Weak transcription	A549	lung
20	chr18:44404000-44448000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:44405400-44443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr18:44406000-44447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr18:44406800-44433600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:44407400-44447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr18:44407600-44431400	Weak transcription	Brain Anterior Caudate	brain
26	chr18:44407600-44453200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr18:44408000-44431200	Weak transcription	Brain Hippocampus Middle	brain
28	chr18:44408000-44433800	Weak transcription	NH-A	brain
29	chr18:44408000-44438000	Weak transcription	Colon Smooth Muscle	Colon
30	chr18:44408200-44436800	Weak transcription	Brain Germinal Matrix	brain
31	chr18:44408400-44432200	Weak transcription	Fetal Thymus	thymus
32	chr18:44408400-44432400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr18:44408400-44432400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr18:44408400-44433800	Weak transcription	Osteobl	bone
35	chr18:44408600-44431400	Weak transcription	Aorta	Aorta
36	chr18:44408600-44436800	Weak transcription	NHLF	lung
37	chr18:44408600-44448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr18:44408800-44430600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr18:44408800-44431000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr18:44408800-44432400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr18:44408800-44433800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr18:44408800-44448200	Weak transcription	Lung	lung
43	chr18:44409200-44432600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr18:44409200-44434000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr18:44409400-44432400	Weak transcription	Fetal Muscle Leg	muscle
46	chr18:44409400-44432800	Weak transcription	Ovary	ovary
47	chr18:44409400-44433600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr18:44409400-44437200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr18:44409400-44447400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr18:44409600-44433800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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