Variant report

Variant	rs7164147
Chromosome Location	chr15:83518702-83518703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:169)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:169 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr15:83518561-83518716	GM12878	blood:	n/a	n/a
2	RAD21	chr15:83518411-83518761	GM12878	blood:	n/a	n/a
3	ELK1	chr15:83518211-83518764	K562	blood:	n/a	n/a
4	GABPA	chr15:83518230-83518768	K562	blood:	n/a	n/a
5	EP300	chr15:83517966-83518781	K562	blood:	n/a	n/a
6	HMGN3	chr15:83518296-83518850	K562	blood:	n/a	n/a
7	RAD21	chr15:83518382-83518846	HepG2	liver:	n/a	n/a
8	ZNF143	chr15:83518255-83518855	K562	blood:	n/a	n/a
9	CEBPB	chr15:83518075-83518748	K562	blood:	n/a	n/a
10	SIN3A	chr15:83518352-83518981	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr15:83518149-83518817	K562	blood:	n/a	n/a
12	ATF3	chr15:83518271-83518741	K562	blood:	n/a	n/a
13	CTCF	chr15:83518322-83518794	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr15:83518418-83518712	MCF-7	breast:	n/a	n/a
15	RAD21	chr15:83518158-83519007	HCT-116	colon:	n/a	n/a
16	CBX3	chr15:83518258-83518758	K562	blood:	n/a	n/a
17	CTCF	chr15:83518412-83518792	T-47D	breast:	n/a	n/a
18	SP1	chr15:83518249-83518747	K562	blood:	n/a	chr15:83518656-83518677
19	CREB1	chr15:83518160-83518856	K562	blood:	n/a	n/a
20	RCOR1	chr15:83518237-83518917	K562	blood:	n/a	n/a
21	RAD21	chr15:83518422-83518755	A549	lung:	n/a	n/a
22	ELF1	chr15:83518308-83518977	MCF-7	breast:	n/a	n/a
23	PML	chr15:83518139-83518829	K562	blood:	n/a	n/a
24	CTCF	chr15:83518380-83518712	T-47D	breast:	n/a	n/a
25	RAD21	chr15:83518353-83518883	ECC-1	luminal epithelium:	n/a	n/a
26	TEAD4	chr15:83518402-83518837	H1-hESC	embryonic stem cell:	n/a	n/a
27	EP300	chr15:83518089-83518723	K562	blood:	n/a	n/a
28	MAX	chr15:83518219-83518752	K562	blood:	n/a	n/a
29	SP1	chr15:83518106-83518909	K562	blood:	n/a	chr15:83518656-83518677
30	ZMIZ1	chr15:83518212-83518803	K562	blood:	n/a	n/a
31	CTCF	chr15:83518352-83518776	GM12878	blood:	n/a	n/a
32	CTCF	chr15:83518426-83518703	Medullo	brain:	n/a	n/a
33	RAD21	chr15:83518202-83518906	MCF-7	breast:	n/a	n/a
34	RAD21	chr15:83518320-83518909	A549	lung:	n/a	n/a
35	NR2F2	chr15:83517772-83518779	K562	blood:	n/a	n/a
36	RAD21	chr15:83518382-83518761	IMR90	lung:	n/a	n/a
37	MXI1	chr15:83518311-83518891	K562	blood:	n/a	n/a
38	CTCF	chr15:83518282-83518803	K562	blood:	n/a	n/a
39	YY1	chr15:83518415-83518706	A549	lung:	n/a	n/a
40	CTCF	chr15:83517959-83518992	A549	lung:	n/a	n/a
41	CTCF	chr15:83518353-83518770	HepG2	liver:	n/a	n/a
42	CEBPD	chr15:83518135-83518774	K562	blood:	n/a	n/a
43	SP1	chr15:83518294-83518907	H1-hESC	embryonic stem cell:	n/a	chr15:83518656-83518677
44	SP1	chr15:83518316-83518804	H1-hESC	embryonic stem cell:	n/a	chr15:83518656-83518677
45	TBL1XR1	chr15:83518168-83518753	K562	blood:	n/a	n/a
46	RAD21	chr15:83518297-83518850	HepG2	liver:	n/a	n/a
47	MAFK	chr15:83518153-83518906	K562	blood:	n/a	n/a
48	MAZ	chr15:83518224-83518806	K562	blood:	n/a	n/a
49	JUND	chr15:83518185-83518748	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr15:83518423-83518719	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:44308417..44308994-chr15:83518558..83519113,2	HCT-116	colon:
2	chr15:83477527..83479377-chr15:83517237..83519936,2	K562	blood:
3	chr15:83517447..83519172-chr15:83734452..83736515,2	K562	blood:
4	chr15:83517113..83521654-chr15:83652714..83657006,7	MCF-7	breast:
5	chr15:83516928..83520058-chr15:83678480..83682741,4	K562	blood:
6	chr15:83477529..83479377-chr15:83517237..83520056,3	K562	blood:

No data

Variant related genes	Relation type
HOMER2	TF binding region
ENSG00000064726	Chromatin interaction
ENSG00000263643	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000169612	Chromatin interaction
ENSG00000103942	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000260608	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs35946485	0.91[AFR][1000 genomes]
rs7178859	0.91[AFR][1000 genomes]
rs73446939	1.00[AMR][1000 genomes]
rs73446965	1.00[AMR][1000 genomes]
rs73446984	1.00[AMR][1000 genomes]
rs737327	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription 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	45 gene(s)	inside rSNPs	diseases
2	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS 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	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83504600-83549400	Weak transcription	Psoas Muscle	Psoas
2	chr15:83505800-83520800	Weak transcription	Dnd41	blood
3	chr15:83505800-83522400	Weak transcription	Fetal Kidney	kidney
4	chr15:83506000-83524200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:83506200-83518800	Weak transcription	Brain Angular Gyrus	brain
6	chr15:83506200-83527400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:83506200-83543800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr15:83506400-83518800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:83507200-83539400	Weak transcription	Fetal Intestine Small	intestine
10	chr15:83507400-83518800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:83507800-83519200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:83507800-83521800	Weak transcription	Brain Germinal Matrix	brain
13	chr15:83513000-83518800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:83513200-83532000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:83513800-83519000	Weak transcription	HMEC	breast
16	chr15:83514200-83521600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr15:83514400-83542800	Weak transcription	Primary T cells from cord blood	blood
18	chr15:83516000-83523400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:83516400-83519000	Enhancers	Placenta	Placenta
20	chr15:83517000-83519400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr15:83517000-83519600	Enhancers	Fetal Muscle Leg	muscle
22	chr15:83517400-83518800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr15:83517400-83519800	Genic enhancers	Pancreas	Pancrea
24	chr15:83517400-83520200	Enhancers	Fetal Muscle Trunk	muscle
25	chr15:83517600-83518800	Enhancers	Fetal Heart	heart
26	chr15:83517800-83519600	Enhancers	Primary hematopoietic stem cells	blood
27	chr15:83517800-83522800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr15:83518000-83518800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:83518000-83519000	Enhancers	Primary B cells from peripheral blood	blood
30	chr15:83518000-83519000	Enhancers	Fetal Lung	lung
31	chr15:83518000-83519000	Enhancers	NHLF	lung
32	chr15:83518000-83519600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr15:83518200-83518800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr15:83518200-83518800	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr15:83518200-83518800	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr15:83518200-83518800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr15:83518200-83519000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr15:83518200-83519000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr15:83518200-83519000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr15:83518200-83519000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:83518200-83519000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:83518200-83519000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr15:83518200-83519000	Enhancers	Fetal Intestine Large	intestine
44	chr15:83518200-83519000	Enhancers	Gastric	stomach
45	chr15:83518200-83519000	Enhancers	Stomach Mucosa	stomach
46	chr15:83518200-83519000	Flanking Active TSS	HSMMtube	muscle
47	chr15:83518200-83519200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr15:83518200-83519200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr15:83518200-83519200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:83518200-83519200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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