Variant report

Variant	rs4757471
Chromosome Location	chr11:17009567-17009568
allele	A/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: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	chr11:16981332..16983715-chr11:17008993..17011024,2	MCF-7	breast:
2	chr11:17008798..17010671-chr11:17099542..17102207,2	MCF-7	breast:
3	chr11:16996304..16999163-chr11:17008949..17011648,2	MCF-7	breast:
4	chr11:17009264..17011620-chr11:17027061..17029636,2	MCF-7	breast:
5	chr11:17006921..17009898-chr11:17019659..17022087,3	MCF-7	breast:
6	chr11:17004144..17005868-chr11:17008994..17011886,3	MCF-7	breast:
7	chr11:17009150..17011174-chr11:17092627..17094497,2	MCF-7	breast:
8	chr11:16976889..16978865-chr11:17008807..17011495,3	MCF-7	breast:
9	chr11:17001912..17011357-chr11:17032509..17037700,15	MCF-7	breast:
10	chr11:17008749..17010885-chr11:17026366..17028840,2	MCF-7	breast:
11	chr11:17007115..17010774-chr11:17033404..17036243,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166689	Chromatin interaction
ENSG00000266493	Chromatin interaction
ENSG00000244398	Chromatin interaction
ENSG00000184669	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10741718	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10766369	0.91[ASW][hapmap];0.96[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11024078	1.00[MEX][hapmap]
rs11827240	0.86[YRI][hapmap]
rs16933508	1.00[MEX][hapmap]
rs16933548	1.00[MEX][hapmap]
rs6486314	1.00[MEX][hapmap]
rs6486315	1.00[MEX][hapmap]
rs7120819	0.90[ASW][hapmap];0.96[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv983149	chr11:17003386-17011615	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16998000-17011800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:17000600-17011800	Enhancers	Pancreas	Pancrea
3	chr11:17001400-17010600	Enhancers	Placenta	Placenta
4	chr11:17003000-17009800	Enhancers	Brain Substantia Nigra	brain
5	chr11:17003600-17009800	Enhancers	Brain Anterior Caudate	brain
6	chr11:17004200-17011200	Weak transcription	Brain Germinal Matrix	brain
7	chr11:17004800-17034200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:17005800-17012200	Enhancers	Gastric	stomach
9	chr11:17006000-17009800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:17006000-17010000	Enhancers	Fetal Heart	heart
11	chr11:17006200-17013200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:17006400-17013400	Weak transcription	Fetal Stomach	stomach
13	chr11:17006400-17034000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:17006600-17010000	Enhancers	Liver	Liver
15	chr11:17007000-17010000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:17007000-17010000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:17007000-17010000	Enhancers	Fetal Kidney	kidney
18	chr11:17007000-17014200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:17007200-17009600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:17007200-17009600	Enhancers	HepG2	liver
21	chr11:17007200-17009800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr11:17007400-17009800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr11:17007400-17009800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr11:17007400-17009800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr11:17007400-17009800	Enhancers	A549	lung
26	chr11:17007600-17009600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr11:17007600-17009600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr11:17007600-17009600	Enhancers	Ovary	ovary
29	chr11:17007600-17009800	Enhancers	Esophagus	oesophagus
30	chr11:17007800-17009800	Enhancers	Spleen	Spleen
31	chr11:17008000-17009600	Enhancers	Fetal Muscle Leg	muscle
32	chr11:17008000-17009800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr11:17008000-17009800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr11:17008000-17009800	Enhancers	Brain Hippocampus Middle	brain
35	chr11:17008200-17014600	Weak transcription	Fetal Lung	lung
36	chr11:17008400-17009600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:17008400-17009800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:17008400-17016000	Weak transcription	Thymus	Thymus
39	chr11:17008600-17009600	Weak transcription	Lung	lung
40	chr11:17008600-17009600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:17008600-17009800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:17008800-17009800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr11:17009000-17009600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:17009000-17009600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:17009000-17009800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr11:17009000-17009800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr11:17009000-17010000	Flanking Active TSS	Stomach Mucosa	stomach
48	chr11:17009200-17009600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr11:17009200-17009800	Enhancers	Fetal Intestine Large	intestine
50	chr11:17009200-17010000	Enhancers	Colonic Mucosa	Colon

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