Variant report

Variant	rs6919218
Chromosome Location	chr6:34560669-34560670
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34553065..34556672-chr6:34559907..34563488,3	K562	blood:
2	chr6:34559418..34564619-chr6:34574111..34579705,5	K562	blood:
3	chr6:34559251..34563150-chr6:34565223..34569696,5	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs12111029	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57048285	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57106758	1.00[ASN][1000 genomes]
rs57157056	1.00[EUR][1000 genomes]
rs58971485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59183825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59191826	0.91[AFR][1000 genomes]
rs59240548	1.00[ASN][1000 genomes]
rs60220209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61316456	1.00[EUR][1000 genomes]
rs61510762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901047	1.00[EUR][1000 genomes]
rs6906562	1.00[EUR][1000 genomes]
rs6908049	1.00[EUR][1000 genomes]
rs6913199	1.00[EUR][1000 genomes]
rs6913396	1.00[EUR][1000 genomes]
rs6913723	1.00[ASN][1000 genomes]
rs6921954	1.00[EUR][1000 genomes]
rs6924259	1.00[ASN][1000 genomes]
rs6931073	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6931985	0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6936924	0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6938501	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939293	0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6939783	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73407800	1.00[EUR][1000 genomes]
rs73409960	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409969	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409980	1.00[EUR][1000 genomes]
rs73409982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409995	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409996	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410000	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411915	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73411933	1.00[EUR][1000 genomes]
rs73411935	1.00[ASN][1000 genomes]
rs73411944	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73411950	1.00[EUR][1000 genomes]
rs73411956	1.00[ASN][1000 genomes]
rs73411957	1.00[ASN][1000 genomes]
rs73411961	1.00[EUR][1000 genomes]
rs73411971	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73411982	1.00[ASN][1000 genomes]
rs73411992	1.00[ASN][1000 genomes]
rs73411995	1.00[ASN][1000 genomes]
rs73411997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413803	1.00[EUR][1000 genomes]
rs73413804	1.00[ASN][1000 genomes]
rs73413808	1.00[ASN][1000 genomes]
rs73413811	1.00[ASN][1000 genomes]
rs73413812	1.00[ASN][1000 genomes]
rs73413815	1.00[ASN][1000 genomes]
rs73413824	1.00[ASN][1000 genomes]
rs73413828	1.00[ASN][1000 genomes]
rs73413843	1.00[ASN][1000 genomes]
rs73413845	1.00[ASN][1000 genomes]
rs73413847	1.00[ASN][1000 genomes]
rs73413854	1.00[ASN][1000 genomes]
rs73413867	1.00[EUR][1000 genomes]
rs73413869	1.00[ASN][1000 genomes]
rs73413870	1.00[ASN][1000 genomes]
rs73413875	1.00[ASN][1000 genomes]
rs73413879	1.00[ASN][1000 genomes]
rs73413885	1.00[ASN][1000 genomes]
rs73746653	1.00[ASN][1000 genomes]
rs7738897	1.00[EUR][1000 genomes]
rs7739387	1.00[EUR][1000 genomes]
rs7742598	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745409	1.00[EUR][1000 genomes]
rs7748850	1.00[EUR][1000 genomes]
rs7762266	1.00[EUR][1000 genomes]
rs7762752	1.00[ASN][1000 genomes]
rs7766367	1.00[EUR][1000 genomes]
rs7766657	1.00[ASN][1000 genomes]
rs7772931	1.00[EUR][1000 genomes]
rs9942450	0.85[YRI][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv516578	chr6:34483015-34561585	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv885792	chr6:34507311-34607958	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv823667	chr6:34533015-34592524	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv818410	chr6:34538544-34579431	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34535600-34563200	Weak transcription	A549	lung
2	chr6:34547200-34566800	Weak transcription	Aorta	Aorta
3	chr6:34548800-34561400	Weak transcription	Fetal Heart	heart
4	chr6:34549000-34564200	Strong transcription	Fetal Intestine Small	intestine
5	chr6:34549400-34564400	Weak transcription	Brain Substantia Nigra	brain
6	chr6:34549800-34564200	Strong transcription	Fetal Stomach	stomach
7	chr6:34553400-34562200	Weak transcription	Small Intestine	intestine
8	chr6:34553400-34570000	Weak transcription	NH-A	brain
9	chr6:34553600-34566400	Weak transcription	Brain Germinal Matrix	brain
10	chr6:34553800-34562800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:34554000-34573600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:34554200-34563000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:34554600-34561000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:34554600-34577200	Weak transcription	HUVEC	blood vessel
15	chr6:34555400-34574200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:34555600-34569200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:34555800-34565400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:34556000-34562200	Weak transcription	Pancreas	Pancrea
19	chr6:34556000-34563800	Weak transcription	Stomach Mucosa	stomach
20	chr6:34556200-34563000	Weak transcription	HMEC	breast
21	chr6:34556200-34612200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:34556400-34563600	Weak transcription	Gastric	stomach
23	chr6:34557200-34573600	Weak transcription	Colonic Mucosa	Colon
24	chr6:34557400-34565000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:34557400-34612400	Weak transcription	Fetal Kidney	kidney
26	chr6:34557600-34562200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:34557600-34562800	Weak transcription	NHLF	lung
28	chr6:34557600-34563600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr6:34557600-34563600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:34557600-34565200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:34557600-34565600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr6:34557600-34566600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:34557600-34567200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr6:34557600-34569000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr6:34557600-34569200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:34557600-34569600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:34557600-34569600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:34557600-34573200	Weak transcription	Spleen	Spleen
39	chr6:34557600-34573400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:34557800-34562400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:34557800-34562800	Weak transcription	Osteobl	bone
42	chr6:34557800-34563000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:34557800-34564400	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:34557800-34565200	Weak transcription	Esophagus	oesophagus
45	chr6:34557800-34565800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:34557800-34566000	Weak transcription	Fetal Lung	lung
47	chr6:34557800-34566400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr6:34558000-34561600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:34558000-34563600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:34558000-34568600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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