Variant report

Variant	rs73472583
Chromosome Location	chr7:150723730-150723731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr7:150723712-150726126	K562	blood:	n/a	chr7:150725350-150725359
2	MYC	chr7:150723630-150726253	K562	blood:	n/a	n/a
3	MYC	chr7:150723115-150726136	K562	blood:	n/a	n/a
4	IRF1	chr7:150722909-150726094	K562	blood:	n/a	chr7:150725350-150725359
5	POLR2A	chr7:150723608-150726158	K562	blood:	n/a	n/a
6	TRIM28	chr7:150723374-150726189	K562	blood:	n/a	n/a
7	TEAD4	chr7:150723005-150724168	K562	blood:	n/a	n/a
8	TEAD4	chr7:150722934-150724176	K562	blood:	n/a	n/a
9	TBL1XR1	chr7:150723099-150724829	K562	blood:	n/a	n/a
10	EP300	chr7:150723324-150724825	K562	blood:	n/a	n/a
11	STAT1	chr7:150723189-150724572	K562	blood:	n/a	chr7:150723519-150723527
12	MAX	chr7:150722995-150726538	K562	blood:	n/a	n/a
13	POLR2A	chr7:150723040-150726571	K562	blood:	n/a	n/a
14	JUND	chr7:150722999-150724800	K562	blood:	n/a	chr7:150723212-150723222
15	TBL1XR1	chr7:150723212-150724800	K562	blood:	n/a	n/a
16	JUN	chr7:150722625-150726841	K562	blood:	n/a	chr7:150723212-150723222
17	CBX3	chr7:150722906-150726571	K562	blood:	n/a	n/a
18	TAL1	chr7:150723116-150724836	K562	blood:	n/a	n/a
19	BHLHE40	chr7:150723704-150726148	K562	blood:	n/a	n/a
20	GATA1	chr7:150723194-150726151	PBDE	blood:	n/a	chr7:150725351-150725361 chr7:150723521-150723534
21	MAFF	chr7:150723040-150724483	K562	blood:	n/a	n/a
22	MAZ	chr7:150723575-150723760	K562	blood:	n/a	n/a
23	ARID3A	chr7:150723284-150724497	K562	blood:	n/a	n/a
24	NR2F2	chr7:150722926-150726419	K562	blood:	n/a	n/a
25	MYC	chr7:150723529-150724752	K562	blood:	n/a	n/a
26	CHD2	chr7:150723210-150724064	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150722965..150724842-chr7:150872237..150873917,2	MCF-7	breast:
2	chr7:150102772..150104339-chr7:150722902..150724548,2	K562	blood:
3	chr7:150713283..150718085-chr7:150719345..150725201,8	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDK5-3	chr7:150723571-150724099	NONHSAT124168

No data

Variant related genes	Relation type
ABCB8	TF binding region
ATG9B	TF binding region
ENSG00000181652	Chromatin interaction
ENSG00000196456	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2069458	1.00[AMR][1000 genomes]
rs3918201	1.00[AMR][1000 genomes]
rs3918216	1.00[AMR][1000 genomes]
rs3918218	1.00[AMR][1000 genomes]
rs41483644	1.00[AMR][1000 genomes]
rs73472587	1.00[AMR][1000 genomes]
rs73474700	1.00[AMR][1000 genomes]
rs73478620	1.00[AMR][1000 genomes]
rs73478626	1.00[AMR][1000 genomes]
rs73478660	1.00[AMR][1000 genomes]
rs9785017	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv889471	chr7:150700946-150751590	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv526410	chr7:150714812-150775306	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150716200-150725000	Weak transcription	Right Atrium	heart
2	chr7:150720200-150725000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr7:150720800-150724400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:150721000-150723800	Weak transcription	Fetal Lung	lung
5	chr7:150721400-150724600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:150721600-150725000	Enhancers	Placenta	Placenta
7	chr7:150722000-150725000	Weak transcription	Esophagus	oesophagus
8	chr7:150722600-150724400	Enhancers	NHEK	skin
9	chr7:150722600-150725000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:150722800-150724000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr7:150722800-150724600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:150722800-150724600	Enhancers	Hela-S3	cervix
13	chr7:150722800-150724800	Weak transcription	Thymus	Thymus
14	chr7:150722800-150725000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:150722800-150725000	Enhancers	HMEC	breast
16	chr7:150723000-150723800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:150723200-150723800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr7:150723200-150723800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr7:150723200-150724000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:150723200-150724000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:150723200-150724600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:150723200-150725200	Flanking Active TSS	K562	blood
23	chr7:150723400-150723800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:150723400-150723800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:150723400-150724600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:150723400-150724600	Weak transcription	A549	lung
27	chr7:150723400-150724800	Weak transcription	NHLF	lung
28	chr7:150723400-150725000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:150723400-150725000	Weak transcription	HSMM	muscle
30	chr7:150723600-150723800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:150723600-150724400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:150723600-150724600	Enhancers	Duodenum Mucosa	Duodenum
33	chr7:150723600-150724600	Enhancers	Stomach Mucosa	stomach

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