Variant report

Variant	rs1554814
Chromosome Location	chr6:144876468-144876469
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	chr6:144864923..144867106-chr6:144874240..144876949,2	K562	blood:
2	chr6:144874039..144876906-chr6:144886839..144888546,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1005974	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1016235	0.88[EUR][1000 genomes]
rs11155357	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11155361	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12201476	0.88[EUR][1000 genomes]
rs12204372	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214126	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13191597	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13193448	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13195928	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13198102	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13201946	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13203229	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13203387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13205040	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13207331	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1534437	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1554813	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1590055	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17793810	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1830271	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1918744	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1918745	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1918746	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1918747	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1918748	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2178128	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34053805	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34095417	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34504312	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34571592	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35161160	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35524567	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35866755	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35904953	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3811099	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3924656	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3924657	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4052725	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4075776	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4146297	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4401687	0.81[ASN][1000 genomes]
rs4438980	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4582403	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56039703	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56158631	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66905872	0.85[ASN][1000 genomes]
rs67767204	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6908795	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6915390	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6918394	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6919793	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6920388	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6924812	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6938409	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6938455	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6938776	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73001731	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73005504	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73005509	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73005511	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7740593	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9376829	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9390177	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9390179	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9390180	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9403565	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9403566	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9403569	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9497023	0.85[EUR][1000 genomes]
rs952050	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs952051	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][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	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr6:144807400-144904000	Weak transcription	Brain Substantia Nigra	brain
2	chr6:144812400-144881000	Weak transcription	Stomach Mucosa	stomach
3	chr6:144815200-144881000	Weak transcription	NHEK	skin
4	chr6:144816600-144881400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:144831400-144879000	Strong transcription	Primary B cells from cord blood	blood
6	chr6:144837200-144880800	Weak transcription	Brain Angular Gyrus	brain
7	chr6:144850200-144877400	Weak transcription	HMEC	breast
8	chr6:144850400-144903200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:144850400-144903200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:144850400-144904200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:144850600-144881600	Weak transcription	Brain Anterior Caudate	brain
12	chr6:144853600-144896400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:144854600-144881200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:144857200-144904000	Weak transcription	Psoas Muscle	Psoas
15	chr6:144858200-144887800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr6:144858600-144879200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr6:144858600-144879400	Strong transcription	HepG2	liver
18	chr6:144859600-144878600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr6:144860200-144879200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr6:144861000-144878400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:144861200-144885000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:144864000-144876600	Weak transcription	Gastric	stomach
23	chr6:144864400-144878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:144864800-144885200	Weak transcription	Colonic Mucosa	Colon
25	chr6:144864800-144885800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr6:144864800-144899000	Weak transcription	Small Intestine	intestine
27	chr6:144865000-144879600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr6:144866200-144881600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:144867000-144878600	Weak transcription	NHLF	lung
30	chr6:144867400-144903800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr6:144868200-144879600	Strong transcription	HUVEC	blood vessel
32	chr6:144869000-144879800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:144869400-144879000	Strong transcription	Fetal Thymus	thymus
34	chr6:144869400-144879200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:144869400-144879400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:144869600-144879000	Strong transcription	Primary T cells from cord blood	blood
37	chr6:144869600-144879000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:144869600-144879600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr6:144869600-144887000	Strong transcription	Primary hematopoietic stem cells	blood
40	chr6:144869800-144878600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:144869800-144879200	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr6:144869800-144885600	Strong transcription	Adipose Nuclei	Adipose
43	chr6:144870000-144880200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:144870800-144898400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:144871000-144876600	Weak transcription	Fetal Intestine Small	intestine
46	chr6:144871000-144879000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:144871200-144880800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr6:144871400-144879400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:144871400-144880200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr6:144872000-144876600	Weak transcription	Aorta	Aorta

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