Variant report

Variant	rs6511011
Chromosome Location	chr19:19152339-19152340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19150556..19153646-chr19:19160742..19164221,4	K562	blood:
2	chr19:19142730..19148953-chr19:19149447..19156213,13	K562	blood:
3	chr19:19151085..19153455-chr19:19230686..19233171,2	K562	blood:
4	chr19:19148470..19151421-chr19:19152094..19154668,2	K562	blood:
5	chr19:19151763..19153880-chr19:19157166..19159164,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105676	Chromatin interaction
ENSG00000064545	Chromatin interaction
ENSG00000064607	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10403222	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10403322	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10405189	0.83[ASN][1000 genomes]
rs10410568	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10416783	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10423815	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1079543	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10854005	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1124921	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11666120	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11666340	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11670204	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11670239	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11671696	0.81[AFR][1000 genomes]
rs11878368	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12016	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12975754	0.84[AMR][1000 genomes]
rs12979565	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1859267	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2107263	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2158320	0.83[ASN][1000 genomes]
rs2240094	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2240095	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2269806	0.83[ASN][1000 genomes]
rs2285851	0.83[ASN][1000 genomes]
rs2313736	0.80[ASN][1000 genomes]
rs2872394	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3180770	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4808179	0.83[ASN][1000 genomes]
rs4808902	0.80[ASN][1000 genomes]
rs4808904	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4808905	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4808906	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4808907	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4808911	0.83[ASN][1000 genomes]
rs4808913	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6511010	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6511014	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6511015	0.83[ASN][1000 genomes]
rs6511017	0.83[ASN][1000 genomes]
rs7248771	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7253244	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7255937	0.82[EUR][1000 genomes]
rs7258637	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7259510	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8101529	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8104754	0.80[AMR][1000 genomes]
rs8104799	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8106146	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8109654	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8110629	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8111634	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8111635	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8112566	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs916898	0.88[EUR][1000 genomes]
rs929215	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9304959	0.83[ASN][1000 genomes]
rs9676917	0.85[AMR][1000 genomes];0.82[ASN][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	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv543927	chr19:19147376-19178024	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 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	chr19:19145000-19154800	Weak transcription	Aorta	Aorta
2	chr19:19145000-19174000	Weak transcription	Small Intestine	intestine
3	chr19:19145200-19153600	Weak transcription	Ovary	ovary
4	chr19:19145400-19153400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:19145400-19165600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:19145400-19171800	Weak transcription	Right Atrium	heart
7	chr19:19145600-19153200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:19145600-19153400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:19145600-19153400	Weak transcription	Brain Substantia Nigra	brain
10	chr19:19145600-19153400	Weak transcription	Colonic Mucosa	Colon
11	chr19:19145600-19153400	Weak transcription	Gastric	stomach
12	chr19:19145600-19153400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr19:19145600-19153600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr19:19145600-19153600	Weak transcription	Brain Anterior Caudate	brain
15	chr19:19145600-19153600	Weak transcription	Brain Hippocampus Middle	brain
16	chr19:19145600-19153600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:19145600-19153600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:19145600-19153800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr19:19145600-19154000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:19145600-19154600	Weak transcription	HUVEC	blood vessel
21	chr19:19145600-19154600	Weak transcription	NHDF-Ad	bronchial
22	chr19:19145600-19154800	Weak transcription	Brain Angular Gyrus	brain
23	chr19:19145600-19154800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:19145600-19159600	Weak transcription	NH-A	brain
25	chr19:19145600-19172200	Weak transcription	Stomach Mucosa	stomach
26	chr19:19145600-19173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:19145600-19173800	Weak transcription	Fetal Kidney	kidney
28	chr19:19145800-19153400	Weak transcription	Spleen	Spleen
29	chr19:19146200-19153600	Weak transcription	Right Ventricle	heart
30	chr19:19146200-19154000	Weak transcription	Left Ventricle	heart
31	chr19:19146400-19153400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:19146400-19153600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:19146600-19161800	Weak transcription	Psoas Muscle	Psoas
34	chr19:19146800-19153400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr19:19147400-19153400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr19:19148400-19161600	Weak transcription	Fetal Heart	heart
37	chr19:19148800-19153400	Weak transcription	Esophagus	oesophagus
38	chr19:19148800-19153400	Weak transcription	Fetal Intestine Large	intestine
39	chr19:19148800-19153400	Weak transcription	Placenta	Placenta
40	chr19:19148800-19153600	Weak transcription	HMEC	breast
41	chr19:19148800-19153800	Weak transcription	NHEK	skin
42	chr19:19149000-19153200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:19149000-19153200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:19149000-19153400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr19:19149000-19153400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:19149000-19153400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr19:19149000-19153400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:19149000-19153400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr19:19149000-19154000	Weak transcription	HSMMtube	muscle
50	chr19:19149000-19154800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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