Variant report

Variant	rs2373927
Chromosome Location	chr7:150724411-150724412
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr7:150723897-150724500	K562	blood:	n/a	n/a
2	IRF1	chr7:150723712-150726126	K562	blood:	n/a	chr7:150725350-150725359
3	RCOR1	chr7:150723966-150726437	K562	blood:	n/a	n/a
4	MYC	chr7:150723630-150726253	K562	blood:	n/a	n/a
5	CEBPB	chr7:150724137-150724769	K562	blood:	n/a	n/a
6	RCOR1	chr7:150723896-150724667	K562	blood:	n/a	n/a
7	RAD21	chr7:150724238-150724501	K562	blood:	n/a	n/a
8	HMGN3	chr7:150724385-150724412	K562	blood:	n/a	n/a
9	ZMIZ1	chr7:150724284-150724566	K562	blood:	n/a	n/a
10	POLR2A	chr7:150724275-150724707	H1-hESC	embryonic stem cell:	n/a	n/a
11	TBP	chr7:150724126-150724734	K562	blood:	n/a	n/a
12	SIN3AK20	chr7:150724201-150724471	K562	blood:	n/a	n/a
13	MYC	chr7:150724126-150724438	K562	blood:	n/a	n/a
14	MYC	chr7:150723115-150726136	K562	blood:	n/a	n/a
15	CCNT2	chr7:150724204-150724610	K562	blood:	n/a	n/a
16	MAFK	chr7:150724408-150724485	K562	blood:	n/a	n/a
17	POLR2A	chr7:150724175-150724727	K562	blood:	n/a	n/a
18	IRF1	chr7:150722909-150726094	K562	blood:	n/a	chr7:150725350-150725359
19	MAX	chr7:150724212-150724509	K562	blood:	n/a	n/a
20	STAT5A	chr7:150723850-150724844	K562	blood:	n/a	n/a
21	POLR2A	chr7:150723608-150726158	K562	blood:	n/a	n/a
22	POLR2A	chr7:150724204-150724612	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr7:150724118-150724415	H1-hESC	embryonic stem cell:	n/a	n/a
24	TRIM28	chr7:150723374-150726189	K562	blood:	n/a	n/a
25	POLR2A	chr7:150724050-150726206	K562	blood:	n/a	n/a
26	CTCF	chr7:150724382-150724489	K562	blood:	n/a	n/a
27	CEBPD	chr7:150724074-150724943	K562	blood:	n/a	n/a
28	HDAC2	chr7:150724193-150724523	K562	blood:	n/a	n/a
29	NR2F2	chr7:150723823-150724831	K562	blood:	n/a	n/a
30	POLR2A	chr7:150724208-150724795	K562	blood:	n/a	n/a
31	MAZ	chr7:150724307-150724793	K562	blood:	n/a	n/a
32	POLR2A	chr7:150724152-150726153	PBDE	blood:	n/a	n/a
33	GATA2	chr7:150724040-150724930	K562	blood:	n/a	n/a
34	MAX	chr7:150724079-150724646	K562	blood:	n/a	n/a
35	E2F6	chr7:150724244-150724466	K562	blood:	n/a	n/a
36	TBL1XR1	chr7:150723099-150724829	K562	blood:	n/a	n/a
37	EP300	chr7:150723324-150724825	K562	blood:	n/a	n/a
38	TEAD4	chr7:150724181-150726592	K562	blood:	n/a	n/a
39	STAT1	chr7:150723189-150724572	K562	blood:	n/a	chr7:150723519-150723527
40	MAX	chr7:150722995-150726538	K562	blood:	n/a	n/a
41	POLR2A	chr7:150723040-150726571	K562	blood:	n/a	n/a
42	JUND	chr7:150722999-150724800	K562	blood:	n/a	chr7:150723212-150723222
43	MYC	chr7:150723913-150724613	K562	blood:	n/a	n/a
44	SPI1	chr7:150724236-150724695	K562	blood:	n/a	n/a
45	TEAD4	chr7:150724189-150726559	K562	blood:	n/a	n/a
46	HDAC2	chr7:150724187-150724675	K562	blood:	n/a	n/a
47	TBL1XR1	chr7:150723212-150724800	K562	blood:	n/a	n/a
48	CEBPD	chr7:150724234-150724933	K562	blood:	n/a	n/a
49	CEBPB	chr7:150724286-150724657	K562	blood:	n/a	n/a
50	POLR2A	chr7:150724000-150725994	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:150718943..150723286-chr7:150723746..150726907,4	MCF-7	breast:
2	chr7:150722965..150724842-chr7:150872237..150873917,2	MCF-7	breast:
3	chr7:150102772..150104339-chr7:150722902..150724548,2	K562	blood:
4	chr7:150719730..150723078-chr7:150724265..150726856,4	MCF-7	breast:
5	chr7:150713283..150718085-chr7:150719345..150725201,8	MCF-7	breast:
6	chr7:150687026..150688559-chr7:150724058..150726072,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATG9B	TF binding region
ABCB8	TF binding region
ENSG00000164867	Chromatin interaction
ENSG00000181652	Chromatin interaction
ENSG00000196456	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12539332	0.83[ASN][1000 genomes]
rs2116023	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2303922	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303924	0.88[ASN][1000 genomes]
rs2303926	0.93[ASN][1000 genomes]
rs35900662	0.93[ASN][1000 genomes]
rs4148848	0.88[ASN][1000 genomes]
rs61218626	0.86[ASN][1000 genomes]
rs6944859	0.92[ASN][1000 genomes]
rs6944935	0.93[ASN][1000 genomes]
rs6947821	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2373927	ATG9B	cis	Thyroid	GTEx

Chromatin state (count:46 , 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	chr7:150721400-150724600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:150721600-150725000	Enhancers	Placenta	Placenta
5	chr7:150722000-150725000	Weak transcription	Esophagus	oesophagus
6	chr7:150722600-150725000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:150722800-150724600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:150722800-150724600	Enhancers	Hela-S3	cervix
9	chr7:150722800-150724800	Weak transcription	Thymus	Thymus
10	chr7:150722800-150725000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:150722800-150725000	Enhancers	HMEC	breast
12	chr7:150723200-150724600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:150723200-150725200	Flanking Active TSS	K562	blood
14	chr7:150723400-150724600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:150723400-150724600	Weak transcription	A549	lung
16	chr7:150723400-150724800	Weak transcription	NHLF	lung
17	chr7:150723400-150725000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:150723400-150725000	Weak transcription	HSMM	muscle
19	chr7:150723600-150724600	Enhancers	Duodenum Mucosa	Duodenum
20	chr7:150723600-150724600	Enhancers	Stomach Mucosa	stomach
21	chr7:150723800-150724600	Enhancers	Fetal Lung	lung
22	chr7:150723800-150724800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:150723800-150724800	Enhancers	Fetal Intestine Large	intestine
24	chr7:150723800-150724800	Enhancers	Fetal Intestine Small	intestine
25	chr7:150724000-150724800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:150724000-150725000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr7:150724000-150726600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:150724200-150724600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:150724200-150726600	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr7:150724400-150724600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr7:150724400-150724600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr7:150724400-150724600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:150724400-150724800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr7:150724400-150724800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr7:150724400-150724800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr7:150724400-150724800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr7:150724400-150724800	Enhancers	Primary B cells from peripheral blood	blood
38	chr7:150724400-150724800	Enhancers	Primary T cells fromperipheralblood	blood
39	chr7:150724400-150724800	Enhancers	Primary hematopoietic stem cells	blood
40	chr7:150724400-150724800	Bivalent Enhancer	Fetal Thymus	thymus
41	chr7:150724400-150725000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:150724400-150725000	Flanking Active TSS	NHEK	skin
43	chr7:150724400-150725200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr7:150724400-150725400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:150724400-150726400	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr7:150724400-150726400	Active TSS	iPS-20b Cell Line	embryonic stem cell

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