Variant report

Variant	rs11247122
Chromosome Location	chr15:100248156-100248157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:100105316..100107211-chr15:100246606..100248832,2	MCF-7	breast:
2	chr15:100247213..100249293-chr15:100253745..100255884,2	K562	blood:
3	chr15:100104091..100109623-chr15:100241901..100248412,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000068305	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1036320	1.00[EUR][1000 genomes]
rs1108205	1.00[EUR][1000 genomes]
rs2570800	1.00[EUR][1000 genomes]
rs2570802	1.00[EUR][1000 genomes]
rs2570803	1.00[EUR][1000 genomes]
rs2570809	1.00[EUR][1000 genomes]
rs2570814	1.00[EUR][1000 genomes]
rs2570820	1.00[EUR][1000 genomes]
rs2570824	1.00[EUR][1000 genomes]
rs2570924	1.00[EUR][1000 genomes]
rs2570925	1.00[EUR][1000 genomes]
rs2570926	1.00[EUR][1000 genomes]
rs2570931	1.00[EUR][1000 genomes]
rs2570932	1.00[EUR][1000 genomes]
rs2570933	1.00[EUR][1000 genomes]
rs2570935	1.00[EUR][1000 genomes]
rs2570938	1.00[EUR][1000 genomes]
rs2581463	1.00[EUR][1000 genomes]
rs2581473	1.00[EUR][1000 genomes]
rs28661496	1.00[EUR][1000 genomes]
rs28747079	1.00[EUR][1000 genomes]
rs28816423	1.00[EUR][1000 genomes]
rs325385	1.00[EUR][1000 genomes]
rs325388	1.00[EUR][1000 genomes]
rs325399	1.00[EUR][1000 genomes]
rs325401	1.00[EUR][1000 genomes]
rs325407	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7163764	1.00[EUR][1000 genomes]
rs7170276	1.00[EUR][1000 genomes]
rs7182926	1.00[EUR][1000 genomes]
rs8027544	1.00[EUR][1000 genomes]
rs8040915	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1038005	chr15:100170414-100633714	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv542522	chr15:100170414-100633714	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv904559	chr15:100174907-100255046	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv904560	chr15:100196657-100339331	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv904561	chr15:100204918-100486828	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv428313	chr15:100236203-100757039	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv904563	chr15:100239546-100274747	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
11	nsv570730	chr15:100240910-100700520	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv1045838	chr15:100243067-101032218	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv904564	chr15:100245296-100723798	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100159000-100253000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:100171200-100248800	Weak transcription	Gastric	stomach
3	chr15:100213200-100250800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:100219400-100248200	Weak transcription	Small Intestine	intestine
5	chr15:100219600-100248400	Weak transcription	Spleen	Spleen
6	chr15:100231000-100250600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:100233400-100248400	Weak transcription	Right Ventricle	heart
8	chr15:100233400-100248800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:100233400-100248800	Weak transcription	Esophagus	oesophagus
10	chr15:100233400-100248800	Weak transcription	Fetal Intestine Small	intestine
11	chr15:100233400-100248800	Weak transcription	Lung	lung
12	chr15:100233400-100248800	Weak transcription	Ovary	ovary
13	chr15:100233400-100248800	Weak transcription	Pancreas	Pancrea
14	chr15:100233400-100250600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:100233400-100250800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr15:100233400-100251200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr15:100233600-100248800	Weak transcription	Fetal Brain Male	brain
18	chr15:100233800-100250800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:100233800-100256600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr15:100234800-100248400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr15:100235000-100248800	Weak transcription	Colonic Mucosa	Colon
22	chr15:100235200-100250800	Weak transcription	Brain Germinal Matrix	brain
23	chr15:100236600-100250800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr15:100236800-100249200	Weak transcription	Placenta	Placenta
25	chr15:100237000-100250000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:100237200-100250200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:100241800-100248800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr15:100244400-100250200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr15:100244400-100250800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:100244600-100248200	Weak transcription	Stomach Mucosa	stomach
31	chr15:100244600-100248400	Weak transcription	Hela-S3	cervix
32	chr15:100244600-100248400	Weak transcription	HepG2	liver
33	chr15:100244600-100248600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr15:100244600-100248600	Weak transcription	A549	lung
35	chr15:100244600-100248800	Weak transcription	K562	blood
36	chr15:100244600-100249400	Weak transcription	Fetal Intestine Large	intestine
37	chr15:100244600-100250000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:100244600-100250600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr15:100244600-100250800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr15:100244600-100250800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:100244600-100250800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr15:100244600-100252800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr15:100244600-100254800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr15:100244600-100272400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr15:100244800-100250800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr15:100245000-100248200	Weak transcription	Brain Anterior Caudate	brain
47	chr15:100245000-100248200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:100245000-100251600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr15:100245000-100258200	Weak transcription	Fetal Kidney	kidney
50	chr15:100245600-100256200	Strong transcription	Dnd41	blood

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