Variant report

Variant	rs7170452
Chromosome Location	chr15:78369414-78369415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr15:78369219-78370343	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:78369376-78370108	GM12878	blood:	n/a	n/a
3	MTA3	chr15:78369191-78369742	GM12878	blood:	n/a	n/a
4	MAX	chr15:78369285-78370337	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPB	chr15:78369370-78369748	HepG2	liver:	n/a	n/a
6	RCOR1	chr15:78369228-78370233	K562	blood:	n/a	n/a
7	STAT5A	chr15:78369308-78369817	GM12878	blood:	n/a	chr15:78369505-78369517
8	POLR2A	chr15:78369366-78370217	K562	blood:	n/a	n/a
9	MAZ	chr15:78369333-78370305	Hela-S3	cervix:	n/a	n/a
10	UBTF	chr15:78369279-78370299	K562	blood:	n/a	n/a
11	CREB1	chr15:78369301-78370353	HepG2	liver:	n/a	n/a
12	PML	chr15:78369314-78369844	GM12878	blood:	n/a	n/a
13	MAX	chr15:78369379-78369930	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr15:78369401-78370196	GM15510	blood:	n/a	n/a
15	CTCF	chr15:78369380-78369530	GM12866	blood:	n/a	n/a
16	CTCF	chr15:78369300-78369570	GM12873	blood:	n/a	n/a
17	POLR2A	chr15:78369400-78370207	ECC-1	luminal epithelium:	n/a	n/a
18	MYC	chr15:78369286-78370407	NB4	blood:	n/a	n/a
19	REST	chr15:78369191-78370221	H1-neurons	neurons:	n/a	chr15:78370190-78370200
20	CEBPB	chr15:78369404-78369741	K562	blood:	n/a	n/a
21	RAD21	chr15:78369101-78370167	IMR90	lung:	n/a	chr15:78369272-78369285
22	ZEB1	chr15:78369360-78369935	GM12878	blood:	n/a	chr15:78369661-78369673
23	POLR2A	chr15:78369326-78370265	MCF-7	breast:	n/a	n/a
24	RUNX3	chr15:78369268-78370270	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:78369394-78370211	HEK293	kidney:	n/a	n/a
26	MXI1	chr15:78369036-78370665	IMR90	lung:	n/a	n/a
27	CREB1	chr15:78369343-78370343	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr15:78369334-78370413	HepG2	liver:	n/a	n/a
29	ZKSCAN1	chr15:78369363-78369773	Hela-S3	cervix:	n/a	n/a
30	HCFC1	chr15:78368897-78370952	Hela-S3	cervix:	n/a	n/a
31	MAX	chr15:78369279-78370349	MCF-7	breast:	n/a	n/a
32	CHD1	chr15:78369281-78369855	GM12878	blood:	n/a	chr15:78369618-78369628 chr15:78369529-78369539
33	CEBPB	chr15:78369413-78369711	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAZ	chr15:78368980-78371018	IMR90	lung:	n/a	n/a
35	UBTF	chr15:78369301-78370081	K562	blood:	n/a	n/a
36	CEBPB	chr15:78369404-78369718	HepG2	liver:	n/a	n/a
37	CREB1	chr15:78369331-78369777	H1-hESC	embryonic stem cell:	n/a	n/a
38	MXI1	chr15:78369126-78370149	GM12878	blood:	n/a	n/a
39	GATA2	chr15:78369266-78369556	SH-SY5Y	brain:	n/a	n/a
40	E2F6	chr15:78369344-78370210	K562	blood:	n/a	n/a
41	HA-E2F1	chr15:78369240-78370272	MCF-7	breast:	n/a	n/a
42	POLR2A	chr15:78369242-78370221	Raji	blood:	n/a	n/a
43	MAX	chr15:78369067-78370373	A549	lung:	n/a	n/a
44	POLR2A	chr15:78369232-78370176	Hela-S3	cervix:	n/a	n/a
45	WRNIP1	chr15:78369217-78369462	GM12878	blood:	n/a	n/a
46	POLR2A	chr15:78369307-78370254	GM18505	blood:	n/a	n/a
47	POLR2A	chr15:78369274-78370241	GM12892	blood:	n/a	n/a
48	MAFF	chr15:78369394-78369534	HepG2	liver:	n/a	n/a
49	POLR2A	chr15:78369341-78370296	HUVEC	blood vessel:	n/a	n/a
50	SMC3	chr15:78369291-78369799	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78367037..78369598-chr15:78400476..78402359,2	MCF-7	breast:
2	chr15:78357782..78360184-chr15:78367009..78369493,4	MCF-7	breast:
3	chr15:78362996..78365897-chr15:78366671..78369435,4	MCF-7	breast:
4	chr15:78357496..78359399-chr15:78368822..78370574,2	MCF-7	breast:

No data

Variant related genes	Relation type
SH2D7	TF binding region
ENSG00000167202	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1053506	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10775214	1.00[YRI][hapmap]
rs10775215	1.00[ASN][1000 genomes]
rs11072725	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072726	1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11633329	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633569	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11636889	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854102	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12595595	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898535	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12900731	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901492	1.00[ASN][1000 genomes]
rs12913206	1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12915731	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12915847	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916320	1.00[ASN][1000 genomes]
rs1348256	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969502	1.00[CEU][hapmap]
rs17477813	0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs1837911	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1837912	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015951	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044100	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2867984	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28680277	1.00[ASN][1000 genomes]
rs3972617	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243072	1.00[ASN][1000 genomes]
rs4243073	0.84[AFR][1000 genomes]
rs4316722	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4411474	1.00[ASN][1000 genomes]
rs4886551	1.00[ASN][1000 genomes]
rs4886552	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886556	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886985	1.00[ASN][1000 genomes]
rs4886986	1.00[ASN][1000 genomes]
rs4886987	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886990	1.00[ASN][1000 genomes]
rs4886991	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886993	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886997	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886998	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887001	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887002	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887003	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4887004	1.00[ASN][1000 genomes]
rs4997420	0.83[AFR][1000 genomes]
rs61732053	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7163997	1.00[ASN][1000 genomes]
rs7169381	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7169882	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170101	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170286	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7174640	1.00[CEU][hapmap]
rs7175192	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175235	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175975	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7180684	1.00[JPT][hapmap]
rs8025423	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033216	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894295	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894296	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894302	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788640	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9920180	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78366800-78369600	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr15:78367600-78370400	Active TSS	Ovary	ovary
3	chr15:78367800-78369600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:78367800-78369600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:78367800-78369600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:78367800-78369600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr15:78367800-78369600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
8	chr15:78367800-78369600	Flanking Active TSS	Hela-S3	cervix
9	chr15:78367800-78369600	Flanking Active TSS	HUVEC	blood vessel
10	chr15:78367800-78369600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr15:78367800-78370400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr15:78367800-78370600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr15:78367800-78370600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:78368000-78369600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr15:78368000-78369600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr15:78368000-78369600	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr15:78368000-78370400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:78368000-78370400	Active TSS	Gastric	stomach
19	chr15:78368000-78370600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr15:78368000-78370600	Active TSS	Psoas Muscle	Psoas
21	chr15:78368200-78369600	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr15:78368200-78369800	Transcr. at gene 5' and 3'	Dnd41	blood
23	chr15:78368200-78370400	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr15:78368200-78370400	Active TSS	Right Ventricle	heart
25	chr15:78368200-78370600	Active TSS	Aorta	Aorta
26	chr15:78368200-78370600	Active TSS	Fetal Kidney	kidney
27	chr15:78368400-78369600	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr15:78368400-78369600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:78368400-78369600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:78368400-78369800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:78368400-78370400	Active TSS	Right Atrium	heart
32	chr15:78368600-78370200	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr15:78368600-78370400	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr15:78368600-78370400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
35	chr15:78368600-78370400	Active TSS	HSMMtube	muscle
36	chr15:78368600-78370600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:78368600-78370600	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr15:78368800-78369600	Weak transcription	Fetal Heart	heart
39	chr15:78368800-78370200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr15:78368800-78370200	Active TSS	Esophagus	oesophagus
41	chr15:78368800-78370200	Active TSS	Left Ventricle	heart
42	chr15:78368800-78370200	Active TSS	Rectal Smooth Muscle	rectum
43	chr15:78368800-78370400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr15:78368800-78370400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:78368800-78370400	Active TSS	Brain Substantia Nigra	brain
46	chr15:78368800-78370400	Active TSS	Colon Smooth Muscle	Colon
47	chr15:78368800-78370400	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr15:78368800-78370400	Active TSS	Lung	lung
49	chr15:78368800-78370400	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr15:78368800-78370400	Active TSS	Small Intestine	intestine

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