Variant report

Variant	rs11548296
Chromosome Location	chr6:30458933-30458934
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30457917..30459530-chr6:30537467..30539381,2	MCF-7	breast:
2	chr6:30455567..30461073-chr6:30522731..30527408,12	MCF-7	breast:
3	chr6:30450075..30454964-chr6:30456336..30460057,8	MCF-7	breast:
4	chr6:30458696..30461748-chr6:30472625..30475481,3	K562	blood:
5	chr6:30455992..30459496-chr6:30536691..30539449,3	K562	blood:
6	chr6:30455700..30459615-chr6:30482438..30485842,11	MCF-7	breast:
7	chr6:30451366..30455453-chr6:30455599..30459533,6	K562	blood:
8	chr6:30456745..30459180-chr6:30523952..30525674,3	MCF-7	breast:
9	chr6:30452366..30463564-chr6:30577885..30586736,19	MCF-7	breast:
10	chr6:30455623..30460789-chr6:30582748..30585313,6	MCF-7	breast:
11	chr6:30456365..30459515-chr6:30480416..30486332,6	MCF-7	breast:
12	chr6:30457060..30459448-chr6:30640175..30642005,2	K562	blood:
13	chr6:30456342..30459390-chr6:30850533..30854331,4	MCF-7	breast:
14	chr6:30455872..30460443-chr6:30482529..30486009,9	K562	blood:
15	chr6:30450929..30459545-chr6:30516289..30528141,20	K562	blood:
16	chr6:30457862..30459531-chr6:30511076..30512616,2	K562	blood:
17	chr6:30455822..30466395-chr6:30579571..30587610,27	K562	blood:
18	chr6:30456489..30460489-chr6:30579571..30585514,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204569	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000204574	Chromatin interaction
ENSG00000235781	Chromatin interaction
ENSG00000236603	Chromatin interaction
ENSG00000204568	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11552605	1.00[EUR][1000 genomes]
rs58980373	1.00[ASN][1000 genomes]
rs60716469	1.00[ASN][1000 genomes]
rs60791005	1.00[ASN][1000 genomes]
rs61356961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61744913	0.87[EUR][1000 genomes]
rs61748586	0.87[EUR][1000 genomes]
rs6902121	1.00[EUR][1000 genomes]
rs6902544	1.00[EUR][1000 genomes]
rs6918685	1.00[EUR][1000 genomes]
rs6927597	1.00[ASN][1000 genomes]
rs6927603	1.00[ASN][1000 genomes]
rs6930075	1.00[EUR][1000 genomes]
rs73431018	1.00[ASN][1000 genomes]
rs73431081	1.00[ASN][1000 genomes]
rs73433105	1.00[ASN][1000 genomes]
rs73433115	1.00[ASN][1000 genomes]
rs7754598	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	nsv884070	chr6:30430875-30472772	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
6	nsv884076	chr6:30434566-30483919	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
7	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
9	nsv970103	chr6:30452455-30460072	Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
10	nsv884081	chr6:30455920-30472772	Strong transcription Active TSS Flanking Active TSS Enhancers Weak 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	29 gene(s)	inside rSNPs	diseases
11	nsv884082	chr6:30455920-30475431	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	29 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	chr6:30456800-30460200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr6:30456800-30460400	Active TSS	Brain Angular Gyrus	brain
3	chr6:30456800-30460400	Active TSS	Brain Cingulate Gyrus	brain
4	chr6:30456800-30460400	Active TSS	Psoas Muscle	Psoas
5	chr6:30457000-30459400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr6:30457200-30462200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
7	chr6:30457200-30462600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:30457400-30459600	Transcr. at gene 5' and 3'	Dnd41	blood
9	chr6:30457400-30461800	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:30457400-30462400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
11	chr6:30457600-30460600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
12	chr6:30457600-30460600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:30457600-30460800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:30457600-30460800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:30457600-30460800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:30457600-30460800	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
17	chr6:30457600-30461000	Transcr. at gene 5' and 3'	Lung	lung
18	chr6:30457600-30462200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
19	chr6:30457600-30462400	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
20	chr6:30457600-30462400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
21	chr6:30457600-30462600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
22	chr6:30457800-30460200	Transcr. at gene 5' and 3'	Spleen	Spleen
23	chr6:30458000-30459000	Transcr. at gene 5' and 3'	NHEK	skin
24	chr6:30458000-30459200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
25	chr6:30458000-30459400	Transcr. at gene 5' and 3'	Placenta	Placenta
26	chr6:30458000-30459400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr6:30458000-30459400	Transcr. at gene 5' and 3'	NHLF	lung
28	chr6:30458000-30459600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:30458000-30459600	Transcr. at gene 5' and 3'	Gastric	stomach
30	chr6:30458000-30459600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
31	chr6:30458000-30460000	Transcr. at gene 5' and 3'	Sigmoid Colon	Sigmoid Colon
32	chr6:30458000-30460200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
33	chr6:30458000-30460200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
34	chr6:30458000-30460400	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
35	chr6:30458000-30460400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
36	chr6:30458000-30460600	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
37	chr6:30458000-30460600	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:30458000-30460800	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:30458000-30460800	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
40	chr6:30458000-30460800	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
41	chr6:30458000-30461000	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
42	chr6:30458000-30461800	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
43	chr6:30458000-30462000	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
44	chr6:30458000-30462600	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
45	chr6:30458200-30459000	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
46	chr6:30458200-30459000	Transcr. at gene 5' and 3'	Fetal Lung	lung
47	chr6:30458200-30459000	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
48	chr6:30458200-30459000	Transcr. at gene 5' and 3'	Stomach Mucosa	stomach
49	chr6:30458200-30459000	Transcr. at gene 5' and 3'	Hela-S3	cervix
50	chr6:30458200-30459200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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