Variant report

Variant	rs11757521
Chromosome Location	chr6:36723380-36723381
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36560234..36563233-chr6:36722828..36725947,3	MCF-7	breast:
2	chr2:118726014..118726874-chr6:36723341..36724132,2	MCF-7	breast:
3	chr6:36584311..36585307-chr6:36723337..36724036,2	MCF-7	breast:
4	chr6:36584660..36585379-chr6:36723253..36723898,2	MCF-7	breast:
5	chr6:36565352..36567022-chr6:36722570..36724829,2	MCF-7	breast:
6	chr6:36722398..36723937-chr6:37026660..37028558,2	MCF-7	breast:
7	chr6:36710588..36713306-chr6:36722738..36724865,2	MCF-7	breast:
8	chr6:36645102..36656546-chr6:36717974..36730993,29	MCF-7	breast:
9	chr6:36644838..36653438-chr6:36718524..36730954,23	MCF-7	breast:
10	chr6:36572562..36574759-chr6:36721579..36723537,2	K562	blood:
11	chr6:36560659..36563311-chr6:36721954..36723559,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112081	Chromatin interaction
ENSG00000124762	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11755091	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757761	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11760163	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12055620	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs12524933	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16889055	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72855081	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72856406	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs916296	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs916298	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs916299	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs916300	1.00[CEU][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs916301	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs916302	0.85[EUR][1000 genomes]
rs9380592	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv524053	chr6:36695223-36747406	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11757521	FLJ43093	cis	multi-tissue	Pritchard
rs11757521	T	trans	lymphoblastoid	seeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36709200-36727000	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:36718400-36723400	Enhancers	Duodenum Mucosa	Duodenum
3	chr6:36718400-36723400	Enhancers	NHEK	skin
4	chr6:36718600-36724200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr6:36718600-36725400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:36718600-36725800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:36718600-36726600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:36718800-36723400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:36718800-36726800	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:36718800-36727400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:36718800-36727400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr6:36719400-36724000	Enhancers	Colonic Mucosa	Colon
13	chr6:36719600-36724000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:36719600-36724800	Enhancers	Esophagus	oesophagus
15	chr6:36719600-36725800	Enhancers	HUVEC	blood vessel
16	chr6:36719600-36727000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr6:36719800-36724800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:36719800-36725600	Enhancers	Spleen	Spleen
19	chr6:36719800-36726000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:36720000-36724000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr6:36720000-36726200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:36720200-36726400	Weak transcription	Pancreas	Pancrea
23	chr6:36720600-36723400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:36720600-36723800	Weak transcription	Lung	lung
25	chr6:36720600-36725600	Flanking Active TSS	GM12878-XiMat	blood
26	chr6:36720600-36726400	Weak transcription	HMEC	breast
27	chr6:36721000-36723400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:36721000-36724400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr6:36721200-36723400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:36721200-36723600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr6:36721200-36725400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr6:36721200-36726600	Weak transcription	Brain Anterior Caudate	brain
33	chr6:36721200-36726600	Weak transcription	Fetal Heart	heart
34	chr6:36721200-36726600	Weak transcription	HSMMtube	muscle
35	chr6:36721400-36723400	Weak transcription	Adipose Nuclei	Adipose
36	chr6:36721400-36723400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr6:36721400-36723400	Weak transcription	Right Atrium	heart
38	chr6:36721400-36726400	Weak transcription	Fetal Intestine Large	intestine
39	chr6:36721400-36726600	Weak transcription	Fetal Intestine Small	intestine
40	chr6:36721400-36728600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:36721600-36723800	Weak transcription	Small Intestine	intestine
42	chr6:36721800-36723400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:36721800-36724400	Weak transcription	Right Ventricle	heart
44	chr6:36721800-36725600	Enhancers	Fetal Thymus	thymus
45	chr6:36721800-36726600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr6:36721800-36726600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:36721800-36733200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr6:36722000-36723400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr6:36722200-36723400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr6:36722200-36723600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood

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