Variant report

Variant	rs57048285
Chromosome Location	chr6:34570764-34570765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34550788..34556388-chr6:34565460..34570894,5	K562	blood:
2	chr6:34570143..34573485-chr6:34575901..34578410,4	K562	blood:
3	chr6:34492976..34496422-chr6:34570016..34572960,3	MCF-7	breast:
4	chr6:34202035..34203669-chr6:34568608..34571560,2	K562	blood:
5	chr6:34521513..34524596-chr6:34566930..34571900,4	MCF-7	breast:
6	chr6:34496140..34497736-chr6:34570571..34572929,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124664	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12111029	0.93[AFR][1000 genomes]
rs57157056	1.00[EUR][1000 genomes]
rs58971485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59183825	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59191826	0.93[AFR][1000 genomes]
rs60220209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61316456	1.00[EUR][1000 genomes]
rs61510762	1.00[AMR][1000 genomes];1.00[EUR][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]
rs6919218	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6921954	1.00[EUR][1000 genomes]
rs6931073	0.95[AFR][1000 genomes]
rs6931985	0.95[AFR][1000 genomes]
rs6936924	0.91[AFR][1000 genomes]
rs6938501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6939293	0.95[AFR][1000 genomes]
rs6939783	0.95[AFR][1000 genomes]
rs73407800	1.00[EUR][1000 genomes]
rs73409960	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73409969	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409980	1.00[EUR][1000 genomes]
rs73409982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409987	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409995	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409996	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410000	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73411915	0.95[AFR][1000 genomes]
rs73411933	1.00[EUR][1000 genomes]
rs73411944	0.91[AFR][1000 genomes]
rs73411950	1.00[EUR][1000 genomes]
rs73411957	0.82[AFR][1000 genomes]
rs73411961	1.00[EUR][1000 genomes]
rs73411971	0.86[AFR][1000 genomes]
rs73411982	0.82[AFR][1000 genomes]
rs73411997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413803	1.00[EUR][1000 genomes]
rs73413804	0.82[AFR][1000 genomes]
rs73413867	1.00[EUR][1000 genomes]
rs7738897	1.00[EUR][1000 genomes]
rs7739387	1.00[EUR][1000 genomes]
rs7742598	1.00[EUR][1000 genomes]
rs7745409	1.00[EUR][1000 genomes]
rs7748850	1.00[EUR][1000 genomes]
rs7762266	1.00[EUR][1000 genomes]
rs7766367	1.00[EUR][1000 genomes]
rs7772931	1.00[EUR][1000 genomes]
rs9942450	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
8	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
9	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
10	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
11	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
12	nsv885794	chr6:34561585-34673149	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34554000-34573600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:34554600-34577200	Weak transcription	HUVEC	blood vessel
3	chr6:34555400-34574200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:34556200-34612200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:34557200-34573600	Weak transcription	Colonic Mucosa	Colon
6	chr6:34557400-34612400	Weak transcription	Fetal Kidney	kidney
7	chr6:34557600-34573200	Weak transcription	Spleen	Spleen
8	chr6:34557600-34573400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:34558000-34573400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:34558000-34573400	Weak transcription	Placenta	Placenta
11	chr6:34558200-34571600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr6:34558400-34577200	Weak transcription	Hela-S3	cervix
13	chr6:34560200-34573400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:34560400-34578600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:34560800-34572200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:34561600-34575400	Strong transcription	Primary T cells from cord blood	blood
17	chr6:34562600-34585200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:34563800-34579000	Weak transcription	HMEC	breast
19	chr6:34564000-34578000	Weak transcription	NHDF-Ad	bronchial
20	chr6:34564800-34571000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr6:34565000-34571000	Enhancers	Adipose Nuclei	Adipose
22	chr6:34565000-34571800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr6:34565200-34570800	Enhancers	Brain Angular Gyrus	brain
24	chr6:34565200-34570800	Enhancers	Ovary	ovary
25	chr6:34565200-34572400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr6:34565600-34574200	Weak transcription	Esophagus	oesophagus
27	chr6:34565600-34576000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr6:34565800-34571000	Enhancers	Fetal Heart	heart
29	chr6:34566000-34573600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr6:34566400-34574200	Strong transcription	GM12878-XiMat	blood
31	chr6:34566600-34570800	Enhancers	Brain Substantia Nigra	brain
32	chr6:34566600-34571000	Strong transcription	Primary hematopoietic stem cells	blood
33	chr6:34566600-34571000	Enhancers	Psoas Muscle	Psoas
34	chr6:34566600-34571400	Enhancers	Pancreas	Pancrea
35	chr6:34566600-34574000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:34566600-34575800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr6:34566800-34574000	Weak transcription	Small Intestine	intestine
38	chr6:34566800-34574800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:34567000-34575800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr6:34567000-34575800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr6:34567000-34612200	Weak transcription	Fetal Lung	lung
42	chr6:34567200-34571200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr6:34567400-34572400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:34567400-34575800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr6:34567600-34573400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr6:34567800-34612400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr6:34568000-34572000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr6:34568000-34572200	Strong transcription	Fetal Thymus	thymus
49	chr6:34568200-34574200	Weak transcription	Gastric	stomach
50	chr6:34568400-34575800	Strong transcription	Primary B cells from cord blood	blood

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