Variant report

Variant	rs7164347
Chromosome Location	chr15:50718561-50718562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:50718083-50718698	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:50644978..50654282-chr15:50714279..50723145,48	MCF-7	breast:
2	chr15:50644601..50650486-chr15:50714318..50720349,10	K562	blood:
3	chr15:50714855..50718759-chr15:50728296..50731650,9	MCF-7	breast:
4	chr15:50644770..50653815-chr15:50713287..50720249,51	MCF-7	breast:
5	chr15:50644809..50652796-chr15:50713240..50720627,20	K562	blood:

No data

Variant related genes	Relation type
USP8	TF binding region
ENSG00000104064	Chromatin interaction
ENSG00000259715	Chromatin interaction
ENSG00000138592	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000264109	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10220843	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs11070784	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12050594	1.00[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs12591094	0.80[ASN][1000 genomes]
rs16963724	0.88[CHB][hapmap]
rs16963744	0.96[YRI][hapmap]
rs17645209	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17645290	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs28642809	0.97[ASN][1000 genomes]
rs3098168	0.88[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs3098174	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs3098204	0.86[CHB][hapmap]
rs3131559	0.82[ASN][1000 genomes]
rs3131562	0.87[CHB][hapmap]
rs3131565	0.83[CHB][hapmap]
rs3131567	0.88[CHB][hapmap];0.80[JPT][hapmap];0.87[ASN][1000 genomes]
rs3131575	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs3131613	0.80[CHB][hapmap]
rs34546811	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4318151	0.82[CHB][hapmap]
rs4380013	1.00[YRI][hapmap]
rs56396299	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61565615	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72738959	0.94[AFR][1000 genomes]
rs72738960	0.94[AFR][1000 genomes]
rs72738970	0.82[AFR][1000 genomes]
rs8032743	0.94[AFR][1000 genomes]
rs8034080	0.94[AFR][1000 genomes]
rs8041096	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv904210	chr15:50702058-50786024	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1040717	chr15:50715572-50846521	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS 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	27 gene(s)	inside rSNPs	diseases
6	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription 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	65 gene(s)	inside rSNPs	diseases
7	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	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
9	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50716000-50718600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:50716000-50718600	Active TSS	K562	blood
3	chr15:50716200-50719200	Active TSS	GM12878-XiMat	blood
4	chr15:50716800-50718800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr15:50717000-50718600	Weak transcription	Spleen	Spleen
6	chr15:50717000-50726800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:50717400-50718600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:50717400-50722600	Weak transcription	Esophagus	oesophagus
9	chr15:50717400-50722600	Weak transcription	Lung	lung
10	chr15:50717400-50747000	Weak transcription	Aorta	Aorta
11	chr15:50717600-50718800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr15:50717600-50718800	Enhancers	Primary B cells from peripheral blood	blood
13	chr15:50717600-50764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:50717600-50774800	Weak transcription	Stomach Mucosa	stomach
15	chr15:50717800-50718600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:50717800-50718600	Enhancers	Primary B cells from cord blood	blood
17	chr15:50717800-50718600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr15:50717800-50718600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:50717800-50718600	Weak transcription	Fetal Stomach	stomach
20	chr15:50717800-50718600	Weak transcription	Psoas Muscle	Psoas
21	chr15:50717800-50718800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr15:50717800-50718800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr15:50717800-50718800	Enhancers	Adipose Nuclei	Adipose
24	chr15:50717800-50718800	Weak transcription	Brain Germinal Matrix	brain
25	chr15:50717800-50718800	Enhancers	Colon Smooth Muscle	Colon
26	chr15:50717800-50718800	Enhancers	Left Ventricle	heart
27	chr15:50717800-50718800	Weak transcription	HSMM	muscle
28	chr15:50717800-50719000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:50717800-50719000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr15:50717800-50719000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:50717800-50719000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr15:50717800-50719000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:50717800-50719000	Enhancers	Ovary	ovary
34	chr15:50717800-50719000	Enhancers	Right Ventricle	heart
35	chr15:50717800-50719200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr15:50717800-50719600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr15:50717800-50719600	Enhancers	Brain Angular Gyrus	brain
38	chr15:50717800-50719800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr15:50717800-50721000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr15:50717800-50723000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:50717800-50724200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:50717800-50724200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:50717800-50724600	Weak transcription	NH-A	brain
44	chr15:50717800-50731200	Weak transcription	Fetal Brain Female	brain
45	chr15:50717800-50731200	Weak transcription	Fetal Kidney	kidney
46	chr15:50717800-50731600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr15:50717800-50731600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr15:50717800-50732000	Weak transcription	Small Intestine	intestine
49	chr15:50717800-50732200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr15:50717800-50732200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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