Variant report

Variant	rs6592259
Chromosome Location	chr11:85398187-85398188
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:85398016-85398210	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:85338441..85340727-chr11:85396726..85399566,2	MCF-7	breast:
2	chr11:85364604..85367287-chr11:85396670..85399821,3	K562	blood:
3	chr11:85397382..85399853-chr11:85520148..85522002,2	MCF-7	breast:

Variant related genes	Relation type
CCDC89	TF binding region
CREBZF	TF binding region
ENSG00000171202	Chromatin interaction
ENSG00000171204	Chromatin interaction
ENSG00000150672	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12099248	1.00[MEX][hapmap]
rs17148336	0.86[YRI][hapmap]
rs17148344	1.00[MEX][hapmap]
rs17148395	1.00[MEX][hapmap]
rs7938015	1.00[ASW][hapmap];0.86[MKK][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes]
rs7946866	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats 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
6	nsv468768	chr11:85395180-85436352	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv555632	chr11:85395180-85436352	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85394000-85427400	Weak transcription	Small Intestine	intestine
2	chr11:85394200-85401800	Weak transcription	Primary T cells from cord blood	blood
3	chr11:85394200-85404200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:85394200-85406200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr11:85394200-85410600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr11:85394200-85410800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:85394400-85400000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:85394400-85410400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:85394400-85410600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:85396800-85429800	Weak transcription	Stomach Mucosa	stomach
11	chr11:85397000-85412600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:85397000-85417400	Weak transcription	Gastric	stomach
13	chr11:85397000-85418800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:85397000-85425400	Weak transcription	Lung	lung
15	chr11:85397200-85398200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:85397200-85400400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:85397200-85401200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:85397200-85405800	Weak transcription	Aorta	Aorta
19	chr11:85397200-85406000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:85397200-85406400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:85397200-85409200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:85397200-85409200	Weak transcription	Placenta	Placenta
23	chr11:85397200-85438600	Weak transcription	Colonic Mucosa	Colon
24	chr11:85397400-85398400	Enhancers	HSMM	muscle
25	chr11:85397400-85401600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr11:85397400-85410400	Weak transcription	Left Ventricle	heart
27	chr11:85397600-85398400	Enhancers	Brain Germinal Matrix	brain
28	chr11:85397600-85398400	Enhancers	Fetal Lung	lung
29	chr11:85397600-85398400	Enhancers	Fetal Stomach	stomach
30	chr11:85397600-85398400	Enhancers	HSMMtube	muscle
31	chr11:85397600-85398600	Enhancers	NHDF-Ad	bronchial
32	chr11:85397600-85402800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:85397600-85404000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:85397600-85406200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:85397600-85407200	Weak transcription	Fetal Kidney	kidney
36	chr11:85397600-85409800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:85397600-85422000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:85397600-85428400	Weak transcription	Brain Angular Gyrus	brain
39	chr11:85397800-85398400	Enhancers	NHLF	lung
40	chr11:85397800-85401800	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:85397800-85403200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:85397800-85406000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:85397800-85407200	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:85397800-85407800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:85397800-85410600	Weak transcription	Fetal Intestine Small	intestine
46	chr11:85397800-85412400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:85397800-85421600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr11:85397800-85430000	Weak transcription	Ovary	ovary
49	chr11:85398000-85402800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:85398000-85408600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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