Variant report

Variant	rs17599691
Chromosome Location	chr15:51169642-51169643
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51056114..51059435-chr15:51164290..51170662,7	MCF-7	breast:
2	chr15:51169311..51171389-chr15:51199353..51201611,2	K562	blood:
3	chr15:51055466..51057454-chr15:51167757..51170599,2	K562	blood:
4	chr15:50977401..50979649-chr15:51165838..51169878,4	MCF-7	breast:
5	chr15:50966245..50970616-chr15:51167760..51171279,6	MCF-7	breast:
6	chr15:51167855..51170942-chr15:51171206..51172852,3	K562	blood:
7	chr15:51169636..51171826-chr15:51174500..51176639,2	K562	blood:
8	chr15:51055486..51061183-chr15:51164859..51169908,7	MCF-7	breast:
9	chr15:51057661..51059465-chr15:51167793..51170787,2	K562	blood:
10	chr15:50967409..50968619-chr15:51168790..51169663,6	MCF-7	breast:
11	chr15:51169062..51169728-chr15:51200375..51201044,2	K562	blood:
12	chr15:50977735..50980671-chr15:51167535..51171424,9	MCF-7	breast:
13	chr15:50967262..50968901-chr15:51168741..51169920,12	MCF-7	breast:
14	chr15:51169074..51171423-chr15:51198294..51201877,3	K562	blood:
15	chr15:51169182..51171979-chr15:51176658..51178721,2	K562	blood:
16	chr15:51169436..51172227-chr15:51174524..51176801,3	MCF-7	breast:
17	chr15:51169111..51169804-chr15:51177818..51178332,2	MCF-7	breast:
18	chr15:51167738..51170695-chr15:51174100..51175756,2	MCF-7	breast:
19	chr15:50977313..50978812-chr15:51169055..51169789,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000081014	Chromatin interaction
ENSG00000138600	Chromatin interaction
ENSG00000092439	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11633489	1.00[ASN][1000 genomes]
rs17521308	1.00[CHD][hapmap];0.88[MKK][hapmap]
rs17521440	1.00[CHD][hapmap];0.93[MKK][hapmap]
rs17599474	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62018211	1.00[ASN][1000 genomes]
rs62018212	1.00[ASN][1000 genomes]
rs62018843	1.00[AFR][1000 genomes]
rs62018844	1.00[ASN][1000 genomes]
rs62018845	1.00[ASN][1000 genomes]
rs62018846	1.00[ASN][1000 genomes]
rs62018847	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62018848	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62018850	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62018856	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62020161	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62020162	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72742324	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9944192	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS 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	82 gene(s)	inside rSNPs	diseases
2	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv457134	chr15:50770868-51184583	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv471242	chr15:50770868-51184583	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS 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	54 gene(s)	inside rSNPs	diseases
6	nsv569396	chr15:50770868-51184583	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv457135	chr15:50770868-51189707	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv569397	chr15:50770868-51189707	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv1047039	chr15:50782070-51187804	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats 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	54 gene(s)	inside rSNPs	diseases
10	nsv542385	chr15:50782070-51187804	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv457136	chr15:50789125-51294995	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
12	nsv569398	chr15:50789125-51294995	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
13	nsv1042372	chr15:50846461-51208891	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
14	nsv542386	chr15:50846461-51208891	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
15	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
16	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
17	nsv529339	chr15:51048579-51270372	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
18	nsv516168	chr15:51114437-51217361	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	nsv428636	chr15:51154834-51298044	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
20	esv3311782	chr15:51167104-51170190	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	esv3311783	chr15:51167104-51170190	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51151200-51177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:51163600-51176400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:51168800-51169800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr15:51168800-51175800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:51169000-51169800	Flanking Active TSS	Hela-S3	cervix
6	chr15:51169000-51169800	Flanking Active TSS	K562	blood
7	chr15:51169200-51178200	Weak transcription	Right Ventricle	heart
8	chr15:51169200-51180000	Weak transcription	Right Atrium	heart
9	chr15:51169400-51169800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:51169400-51169800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr15:51169400-51169800	Enhancers	Liver	Liver
12	chr15:51169400-51169800	Enhancers	Fetal Heart	heart
13	chr15:51169400-51169800	Enhancers	Rectal Smooth Muscle	rectum
14	chr15:51169400-51169800	Flanking Active TSS	A549	lung
15	chr15:51169400-51169800	Enhancers	HSMM	muscle
16	chr15:51169400-51170000	Enhancers	Gastric	stomach
17	chr15:51169400-51171200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr15:51169400-51171400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:51169400-51172400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr15:51169400-51172800	Weak transcription	Primary B cells from cord blood	blood
21	chr15:51169400-51176000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr15:51169400-51177400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr15:51169600-51169800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:51169600-51169800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr15:51169600-51169800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr15:51169600-51169800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:51169600-51169800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:51169600-51169800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:51169600-51169800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr15:51169600-51169800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:51169600-51169800	Enhancers	Brain Cingulate Gyrus	brain
32	chr15:51169600-51169800	Enhancers	Colon Smooth Muscle	Colon
33	chr15:51169600-51169800	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr15:51169600-51169800	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr15:51169600-51169800	Enhancers	Stomach Smooth Muscle	stomach
36	chr15:51169600-51169800	Enhancers	HMEC	breast
37	chr15:51169600-51169800	Enhancers	HUVEC	blood vessel
38	chr15:51169600-51169800	Enhancers	NHDF-Ad	bronchial
39	chr15:51169600-51169800	Enhancers	NHEK	skin
40	chr15:51169600-51169800	Enhancers	Osteobl	bone
41	chr15:51169600-51170000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:51169600-51170000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:51169600-51170000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr15:51169600-51170000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:51169600-51170000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:51169600-51170200	Enhancers	HepG2	liver
47	chr15:51169600-51171000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr15:51169600-51171000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr15:51169600-51171200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:51169600-51171200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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