Variant report

Variant	rs4498952
Chromosome Location	chr11:47612776-47612777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47612536..47615119-chr11:47621366..47624044,3	MCF-7	breast:
2	chr11:47612748..47614519-chr11:47788847..47791684,2	K562	blood:
3	chr11:47586895..47590126-chr11:47609798..47613644,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109920	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000110536	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10838735	0.82[AFR][1000 genomes]
rs2045614	1.00[ASN][1000 genomes]
rs2233354	0.82[AFR][1000 genomes]
rs4256934	0.82[AFR][1000 genomes]
rs4284367	0.82[AFR][1000 genomes]
rs4303193	0.82[AFR][1000 genomes]
rs4331047	0.82[AFR][1000 genomes]
rs4434961	0.82[AFR][1000 genomes]
rs4486587	0.82[AFR][1000 genomes]
rs4623856	0.82[AFR][1000 genomes]
rs6485760	0.82[AFR][1000 genomes]
rs6485762	0.82[AFR][1000 genomes]
rs7103092	0.82[AFR][1000 genomes]
rs7105845	0.82[AFR][1000 genomes]
rs7118271	0.82[AFR][1000 genomes]
rs7933674	1.00[ASN][1000 genomes]
rs7949024	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv825873	chr11:47609306-47616463	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv3418266	chr11:47610276-47613374	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3421537	chr11:47610601-47613149	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3434012	chr11:47610726-47613224	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47601400-47613400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47606000-47614200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:47606200-47614200	Weak transcription	A549	lung
4	chr11:47606200-47614600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:47606600-47613400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:47606800-47613200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:47606800-47613600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:47606800-47613600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:47607000-47612800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:47607000-47613200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:47607000-47613200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr11:47607000-47613400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:47607000-47613400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:47607000-47632800	Weak transcription	Dnd41	blood
15	chr11:47607200-47613600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:47607600-47613000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:47607600-47613400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:47607800-47613200	Weak transcription	Primary T cells from cord blood	blood
19	chr11:47608200-47613400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr11:47608400-47613400	Enhancers	Primary hematopoietic stem cells	blood
21	chr11:47609200-47613400	Weak transcription	Primary B cells from cord blood	blood
22	chr11:47609200-47614800	Weak transcription	Brain Angular Gyrus	brain
23	chr11:47609400-47614600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:47609600-47613400	Weak transcription	Brain Substantia Nigra	brain
25	chr11:47609800-47613200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:47610200-47613400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:47610400-47613200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr11:47610600-47613200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr11:47611000-47613400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:47611200-47613600	Weak transcription	Brain Anterior Caudate	brain
31	chr11:47611600-47613400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:47611600-47613800	Weak transcription	Fetal Heart	heart
33	chr11:47611800-47613400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:47611800-47613400	Enhancers	Fetal Brain Male	brain
35	chr11:47611800-47613400	Weak transcription	Thymus	Thymus
36	chr11:47612200-47612800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr11:47612200-47612800	Weak transcription	Placenta	Placenta
38	chr11:47612200-47613000	Enhancers	Fetal Muscle Trunk	muscle
39	chr11:47612200-47613000	Weak transcription	HUVEC	blood vessel
40	chr11:47612200-47613200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:47612200-47615000	Weak transcription	Gastric	stomach
42	chr11:47612200-47615000	Weak transcription	Spleen	Spleen
43	chr11:47612200-47615400	Weak transcription	Pancreas	Pancrea
44	chr11:47612200-47615600	Weak transcription	Right Atrium	heart
45	chr11:47612200-47615600	Weak transcription	Right Ventricle	heart
46	chr11:47612400-47613000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:47612400-47613200	Enhancers	HepG2	liver
48	chr11:47612400-47613800	Enhancers	GM12878-XiMat	blood
49	chr11:47612600-47613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr11:47612600-47613400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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