Variant report

Variant	rs57679254
Chromosome Location	chr6:150076958-150076959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:150071337..150080563-chr6:150080588..150087592,16	K562	blood:
2	chr6:150075712..150077814-chr6:150098516..150101508,2	K562	blood:
3	chr6:150075319..150077363-chr6:150091174..150093691,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs2343263	1.00[AFR][1000 genomes]
rs41424047	1.00[AFR][1000 genomes]
rs55679019	1.00[AFR][1000 genomes]
rs55734514	1.00[AFR][1000 genomes]
rs55956738	1.00[AFR][1000 genomes]
rs56095145	1.00[AFR][1000 genomes]
rs56196636	0.86[AFR][1000 genomes]
rs56252629	0.86[AFR][1000 genomes]
rs56661428	1.00[AFR][1000 genomes]
rs58121840	0.86[AFR][1000 genomes]
rs58277211	1.00[AFR][1000 genomes]
rs58319496	0.86[AFR][1000 genomes]
rs58735783	1.00[AFR][1000 genomes]
rs58933940	1.00[AFR][1000 genomes]
rs59528999	1.00[AFR][1000 genomes]
rs59644096	1.00[AFR][1000 genomes]
rs60539437	1.00[AFR][1000 genomes]
rs60596573	1.00[AFR][1000 genomes]
rs60619665	1.00[AFR][1000 genomes]
rs60909651	1.00[AFR][1000 genomes]
rs61370787	0.86[AFR][1000 genomes]
rs61528805	1.00[AFR][1000 genomes]
rs61666000	0.86[AFR][1000 genomes]
rs73779509	1.00[AFR][1000 genomes]
rs73779511	1.00[AFR][1000 genomes]
rs73779512	1.00[AFR][1000 genomes]
rs73779515	1.00[AFR][1000 genomes]
rs73779534	1.00[AFR][1000 genomes]
rs73779537	1.00[AFR][1000 genomes]
rs73779540	1.00[AFR][1000 genomes]
rs73779542	1.00[AFR][1000 genomes]
rs73779543	1.00[AFR][1000 genomes]
rs73779545	1.00[AFR][1000 genomes]
rs73779548	1.00[AFR][1000 genomes]
rs73779555	1.00[AFR][1000 genomes]
rs73779556	1.00[AFR][1000 genomes]
rs73779560	1.00[AFR][1000 genomes]
rs73779564	1.00[AFR][1000 genomes]
rs73779567	1.00[AFR][1000 genomes]
rs73779571	1.00[AFR][1000 genomes]
rs73779573	0.86[AFR][1000 genomes]
rs73779577	1.00[AFR][1000 genomes]
rs73781237	1.00[AFR][1000 genomes]
rs73781239	1.00[AFR][1000 genomes]
rs73781243	1.00[AFR][1000 genomes]
rs73781249	0.86[AFR][1000 genomes]
rs73781250	1.00[AFR][1000 genomes]
rs73781251	1.00[AFR][1000 genomes]
rs73781252	1.00[AFR][1000 genomes]
rs73781278	1.00[AFR][1000 genomes]
rs73781279	1.00[AFR][1000 genomes]
rs73781280	1.00[AFR][1000 genomes]
rs73781281	0.86[AFR][1000 genomes]
rs73781282	1.00[AFR][1000 genomes]
rs73781283	1.00[AFR][1000 genomes]
rs73781284	1.00[AFR][1000 genomes]
rs73781287	1.00[AFR][1000 genomes]
rs73781288	1.00[AFR][1000 genomes]
rs73781290	1.00[AFR][1000 genomes]
rs73782106	0.86[AFR][1000 genomes]
rs73782133	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv1792620	chr6:149909491-150083621	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv3475167	chr6:150003006-150086225	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv3475168	chr6:150003006-150086225	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv1803291	chr6:150018508-150164190	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150071800-150081200	Weak transcription	Spleen	Spleen
2	chr6:150071800-150092600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:150071800-150092800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:150071800-150100200	Weak transcription	Gastric	stomach
5	chr6:150072000-150081000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:150072000-150081200	Weak transcription	Placenta	Placenta
7	chr6:150072000-150081600	Weak transcription	Fetal Stomach	stomach
8	chr6:150072000-150086800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:150072000-150087000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:150072000-150087200	Weak transcription	Stomach Mucosa	stomach
11	chr6:150072000-150094200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:150072000-150111000	Weak transcription	Fetal Kidney	kidney
13	chr6:150072000-150152000	Weak transcription	Aorta	Aorta
14	chr6:150072200-150077000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:150072200-150080800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:150072200-150081000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:150072200-150081000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:150072200-150081200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:150072200-150087000	Weak transcription	Fetal Lung	lung
20	chr6:150072200-150087200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:150072200-150087200	Weak transcription	Primary T cells from cord blood	blood
22	chr6:150072200-150087200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:150072200-150087200	Weak transcription	NH-A	brain
24	chr6:150072400-150080600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:150072400-150081000	Weak transcription	HSMM	muscle
26	chr6:150072400-150081000	Weak transcription	HSMMtube	muscle
27	chr6:150072400-150081000	Weak transcription	Osteobl	bone
28	chr6:150072400-150081400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:150072400-150086800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr6:150072400-150087200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:150072400-150104600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr6:150072400-150111400	Weak transcription	Colonic Mucosa	Colon
33	chr6:150072600-150080800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:150072600-150081000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:150072600-150087000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:150072600-150087200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:150072600-150087200	Weak transcription	NHEK	skin
38	chr6:150072800-150077600	Weak transcription	Fetal Muscle Leg	muscle
39	chr6:150072800-150081000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:150072800-150081000	Weak transcription	Brain Germinal Matrix	brain
41	chr6:150072800-150081200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:150072800-150081200	Weak transcription	HMEC	breast
43	chr6:150072800-150087200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr6:150073000-150086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:150073000-150086800	Weak transcription	Fetal Brain Female	brain
46	chr6:150073000-150087200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr6:150073000-150094400	Weak transcription	Lung	lung
48	chr6:150073200-150077000	Weak transcription	Fetal Intestine Large	intestine
49	chr6:150073200-150077800	Weak transcription	Fetal Thymus	thymus
50	chr6:150073200-150080400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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