Variant report

Variant	rs11754548
Chromosome Location	chr6:34504767-34504768
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34495679..34498360-chr6:34503054..34505628,3	MCF-7	breast:
2	chr6:34504144..34505003-chr6:34514225..34514901,2	MCF-7	breast:
3	chr6:34502860..34505153-chr6:34574324..34576111,2	MCF-7	breast:
4	chr6:34503783..34506203-chr6:34577530..34580135,3	MCF-7	breast:
5	chr6:34503239..34505474-chr6:34519140..34521426,2	MCF-7	breast:
6	chr6:34502654..34506400-chr6:34510960..34515406,9	MCF-7	breast:
7	chr6:34503128..34505845-chr6:34536309..34539232,2	K562	blood:
8	chr6:34501585..34503222-chr6:34504276..34506644,2	K562	blood:

No data

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11756280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756281	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886980	0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2233637	0.93[ASN][1000 genomes]
rs2233639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2233647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2282249	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2282251	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2282252	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2296575	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2395595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2395596	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3734362	1.00[JPT][hapmap];0.80[YRI][hapmap];0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3778069	0.91[ASN][1000 genomes]
rs3778071	0.91[ASN][1000 genomes]
rs3778075	0.89[ASN][1000 genomes]
rs3798544	0.82[CHB][hapmap]
rs3798546	0.89[ASN][1000 genomes]
rs3798549	0.89[ASN][1000 genomes]
rs3798551	0.93[ASN][1000 genomes]
rs3798552	0.93[ASN][1000 genomes]
rs3800466	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3822986	0.89[ASN][1000 genomes]
rs3945698	0.91[ASN][1000 genomes]
rs41312309	0.85[EUR][1000 genomes]
rs55660517	0.85[ASN][1000 genomes]
rs56781192	0.91[ASN][1000 genomes]
rs59316688	0.94[ASN][1000 genomes]
rs59738570	0.85[ASN][1000 genomes]
rs59778290	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs60358080	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61453687	0.91[ASN][1000 genomes]
rs6919434	0.85[EUR][1000 genomes]
rs7754038	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763757	1.00[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv885786	chr6:34426884-34542662	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	esv1813536	chr6:34455242-34545123	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv885787	chr6:34458533-34546560	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv885788	chr6:34464010-34551912	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	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
11	nsv885789	chr6:34474939-34546560	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	nsv1033325	chr6:34482287-34517857	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv885790	chr6:34483015-34542662	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv885791	chr6:34483015-34546560	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
15	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
16	nsv1022555	chr6:34488209-34517003	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	esv1801907	chr6:34492567-34545860	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
18	nsv1026919	chr6:34495371-34517857	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
19	nsv1016788	chr6:34496002-34529165	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34495400-34506600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:34495800-34505200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:34498200-34514200	Weak transcription	Right Ventricle	heart
4	chr6:34500400-34506800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:34500600-34513800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:34500800-34506600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:34501800-34506000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr6:34503000-34504800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:34503000-34505400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:34503200-34504800	Enhancers	Brain Hippocampus Middle	brain
11	chr6:34503400-34505200	Enhancers	Fetal Brain Female	brain
12	chr6:34503400-34505200	Enhancers	Gastric	stomach
13	chr6:34503600-34505000	Enhancers	Fetal Intestine Large	intestine
14	chr6:34503600-34505600	Enhancers	Brain Germinal Matrix	brain
15	chr6:34503600-34506200	Enhancers	Colonic Mucosa	Colon
16	chr6:34503800-34504800	Enhancers	Brain Substantia Nigra	brain
17	chr6:34503800-34505400	Enhancers	Duodenum Mucosa	Duodenum
18	chr6:34503800-34505400	Enhancers	Stomach Mucosa	stomach
19	chr6:34503800-34506000	Enhancers	A549	lung
20	chr6:34504000-34504800	Genic enhancers	Fetal Stomach	stomach
21	chr6:34504000-34505200	Enhancers	Fetal Brain Male	brain
22	chr6:34504200-34504800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:34504200-34505000	Enhancers	Fetal Intestine Small	intestine
24	chr6:34504200-34506000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:34504400-34504800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:34504400-34505000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr6:34504600-34504800	Enhancers	Right Atrium	heart
28	chr6:34504600-34505200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:34504600-34505400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:34504600-34505600	Enhancers	K562	blood

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