Variant report

Variant	rs347122
Chromosome Location	chr15:59039232-59039233
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:59033413..59035094-chr15:59037580..59040574,2	MCF-7	breast:
2	chr15:59037438..59039932-chr15:59074278..59075927,2	K562	blood:
3	chr15:59038007..59039912-chr15:59224020..59226642,2	K562	blood:
4	chr15:59038486..59040541-chr15:59040847..59043052,2	MCF-7	breast:
5	chr15:59036715..59039912-chr15:59224020..59227520,4	K562	blood:
6	chr15:59029139..59031905-chr15:59037322..59039865,2	K562	blood:
7	chr15:59038586..59040600-chr15:59061472..59063196,2	MCF-7	breast:
8	chr15:59038832..59043387-chr15:59060936..59065101,7	K562	blood:
9	chr15:59025699..59027960-chr15:59038496..59040906,2	K562	blood:
10	chr15:59038297..59040684-chr15:59062023..59064317,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137776	Chromatin interaction
ENSG00000245975	Chromatin interaction
ENSG00000128923	Chromatin interaction
ENSG00000137845	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11631244	0.83[EUR][1000 genomes]
rs11631334	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11632492	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11639208	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16940810	0.83[EUR][1000 genomes]
rs17190720	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2555787	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2657126	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs347118	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs347119	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs347121	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs384322	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs387005	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs390390	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs415403	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs424346	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs437549	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs602921	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs625510	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs664783	0.89[EUR][1000 genomes]
rs73426525	0.82[AMR][1000 genomes]
rs73426541	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs793417	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]

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	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
7	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59022200-59040200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr15:59023600-59040000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr15:59025600-59040000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr15:59026800-59039600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:59027000-59039800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr15:59027600-59040200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:59030800-59039400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr15:59033600-59040000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr15:59033600-59040400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:59035200-59040200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr15:59035400-59039800	Weak transcription	Adipose Nuclei	Adipose
12	chr15:59035600-59040200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:59035600-59040200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr15:59035600-59040800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:59035600-59040800	Weak transcription	Lung	lung
16	chr15:59036000-59039800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr15:59036000-59040000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr15:59036200-59040000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:59036400-59040000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr15:59036400-59040000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr15:59036800-59039400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr15:59037000-59039400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:59037200-59039600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr15:59037600-59039600	Enhancers	Brain Substantia Nigra	brain
25	chr15:59037600-59040200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr15:59037600-59040200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr15:59037800-59039600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:59037800-59039600	Enhancers	Fetal Intestine Small	intestine
29	chr15:59037800-59039600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr15:59037800-59039600	Enhancers	A549	lung
31	chr15:59037800-59040000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr15:59037800-59040000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:59037800-59040200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr15:59037800-59040200	Enhancers	Colon Smooth Muscle	Colon
35	chr15:59037800-59040400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr15:59037800-59042400	Active TSS	GM12878-XiMat	blood
37	chr15:59037800-59042600	Active TSS	HSMMtube	muscle
38	chr15:59037800-59043000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:59038000-59039400	Flanking Active TSS	HepG2	liver
40	chr15:59038000-59039600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:59038000-59039600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr15:59038000-59039800	Enhancers	Brain Cingulate Gyrus	brain
43	chr15:59038000-59039800	Enhancers	Fetal Intestine Large	intestine
44	chr15:59038000-59039800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr15:59038000-59040000	Enhancers	Liver	Liver
46	chr15:59038000-59040000	Enhancers	Fetal Lung	lung
47	chr15:59038000-59040200	Enhancers	Primary B cells from peripheral blood	blood
48	chr15:59038000-59042800	Active TSS	Right Atrium	heart
49	chr15:59038000-59043000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr15:59038200-59039400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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