Variant report

Variant	rs2063291
Chromosome Location	chr15:51171108-51171109
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51169311..51171389-chr15:51199353..51201611,2	K562	blood:
2	chr15:50966245..50970616-chr15:51167760..51171279,6	MCF-7	breast:
3	chr15:51054823..51057602-chr15:51170725..51172397,2	MCF-7	breast:
4	chr15:51169636..51171826-chr15:51174500..51176639,2	K562	blood:
5	chr15:50977735..50980671-chr15:51167535..51171424,9	MCF-7	breast:
6	chr15:51169074..51171423-chr15:51198294..51201877,3	K562	blood:
7	chr15:51169182..51171979-chr15:51176658..51178721,2	K562	blood:
8	chr15:51169436..51172227-chr15:51174524..51176801,3	MCF-7	breast:

No data

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

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10519288	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16964061	0.86[EUR][1000 genomes]
rs17522120	1.00[JPT][hapmap]
rs17600241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063290	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28412002	0.84[EUR][1000 genomes]
rs28504625	0.86[EUR][1000 genomes]
rs28668174	0.86[EUR][1000 genomes]
rs58355375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60008926	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178693	0.86[EUR][1000 genomes]
rs7181613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72742341	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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

No data

Chromatin state (count:65 , 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	chr15:51168800-51175800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:51169200-51178200	Weak transcription	Right Ventricle	heart
5	chr15:51169200-51180000	Weak transcription	Right Atrium	heart
6	chr15:51169400-51171200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr15:51169400-51171400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:51169400-51172400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:51169400-51172800	Weak transcription	Primary B cells from cord blood	blood
10	chr15:51169400-51176000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr15:51169400-51177400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr15:51169600-51171200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:51169600-51171200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:51169600-51171200	Enhancers	GM12878-XiMat	blood
15	chr15:51169600-51171400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:51169600-51171600	Weak transcription	HSMMtube	muscle
17	chr15:51169600-51172400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:51169600-51172400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr15:51169600-51172400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:51169600-51172400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:51169600-51172400	Weak transcription	NHLF	lung
22	chr15:51169600-51172600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr15:51169600-51172600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr15:51169600-51172600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:51169600-51173400	Weak transcription	Placenta	Placenta
26	chr15:51169600-51174800	Enhancers	Dnd41	blood
27	chr15:51169600-51175800	Weak transcription	Esophagus	oesophagus
28	chr15:51169600-51176000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr15:51169600-51176200	Weak transcription	Adipose Nuclei	Adipose
30	chr15:51169600-51176200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr15:51169600-51176200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr15:51169600-51177400	Weak transcription	Brain Anterior Caudate	brain
33	chr15:51169600-51177400	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:51169600-51177600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr15:51169800-51171200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:51169800-51171200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:51169800-51171200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr15:51169800-51171400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr15:51169800-51171600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:51169800-51171800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr15:51169800-51172400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:51169800-51172400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr15:51169800-51172400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:51169800-51172400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr15:51169800-51172400	Weak transcription	Hela-S3	cervix
46	chr15:51169800-51172400	Weak transcription	HMEC	breast
47	chr15:51169800-51172400	Weak transcription	HSMM	muscle
48	chr15:51169800-51172400	Weak transcription	Osteobl	bone
49	chr15:51169800-51172600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:51169800-51172600	Weak transcription	HUVEC	blood vessel

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