Variant report

Variant	rs56353209
Chromosome Location	chr7:150782693-150782694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr7:150782682-150783411	K562	blood:	n/a	n/a
2	MXI1	chr7:150782041-150783707	K562	blood:	n/a	chr7:150782809-150782818 chr7:150782811-150782820
3	POLR2A	chr7:150782163-150783841	HepG2	liver:	n/a	n/a
4	TBL1XR1	chr7:150782398-150783337	K562	blood:	n/a	n/a
5	RCOR1	chr7:150782488-150783698	K562	blood:	n/a	n/a
6	POLR2A	chr7:150782028-150787573	IMR90	lung:	n/a	n/a
7	CTCF	chr7:150782636-150782722	LNCaP	prostate:	n/a	n/a
8	MAFF	chr7:150782519-150782877	K562	blood:	n/a	n/a
9	GTF2F1	chr7:150782683-150783332	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr7:150782457-150783777	K562	blood:	n/a	n/a
11	PML	chr7:150782613-150783420	K562	blood:	n/a	n/a
12	TFAP2A	chr7:150782674-150783438	Hela-S3	cervix:	n/a	chr7:150783286-150783298 chr7:150783157-150783167 chr7:150783286-150783298 chr7:150783286-150783298 chr7:150783286-150783298
13	TAF1	chr7:150782626-150782878	SK-N-SH	brain:	n/a	n/a
14	MAZ	chr7:150782586-150783733	K562	blood:	n/a	chr7:150782810-150782819 chr7:150782805-150782824 chr7:150782809-150782819 chr7:150782810-150782819 chr7:150782809-150782820 chr7:150783586-150783596 chr7:150782810-150782819 chr7:150782810-150782820
15	POLR2A	chr7:150782600-150783409	U87	brain:	n/a	n/a
16	TBP	chr7:150782672-150783370	Hela-S3	cervix:	n/a	n/a
17	MAX	chr7:150782658-150783768	Hela-S3	cervix:	n/a	chr7:150782810-150782819 chr7:150782805-150782824 chr7:150782809-150782819 chr7:150782810-150782819 chr7:150782809-150782820 chr7:150783586-150783596 chr7:150782810-150782819 chr7:150782810-150782820
18	IRF1	chr7:150782495-150783562	K562	blood:	n/a	chr7:150782512-150782521 chr7:150782606-150782615 chr7:150783230-150783241
19	ZBTB7A	chr7:150782512-150785231	K562	blood:	n/a	n/a
20	TEAD4	chr7:150782366-150782993	K562	blood:	n/a	n/a
21	POLR2A	chr7:150782465-150783749	K562	blood:	n/a	n/a
22	POLR2A	chr7:150782628-150783669	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr7:150782427-150783444	K562	blood:	n/a	n/a
24	TFAP2C	chr7:150782613-150783426	Hela-S3	cervix:	n/a	chr7:150783285-150783300
25	POLR2A	chr7:150782322-150783827	K562	blood:	n/a	n/a
26	TCF12	chr7:150782639-150783557	A549	lung:	n/a	n/a
27	CHD2	chr7:150782578-150782841	K562	blood:	n/a	chr7:150782671-150782681
28	POLR2A	chr7:150782169-150787040	HUVEC	blood vessel:	n/a	n/a
29	HEY1	chr7:150782481-150783438	K562	blood:	n/a	n/a
30	MAX	chr7:150782504-150783820	A549	lung:	n/a	chr7:150782810-150782819 chr7:150782805-150782824 chr7:150782809-150782819 chr7:150782810-150782819 chr7:150782809-150782820 chr7:150783586-150783596 chr7:150782810-150782819 chr7:150782810-150782820
31	E2F6	chr7:150782622-150783746	K562	blood:	n/a	chr7:150783496-150783506 chr7:150783492-150783501 chr7:150783700-150783709 chr7:150783243-150783255
32	TAF1	chr7:150782671-150783245	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZNF263	chr7:150782675-150783340	HEK293-T-REx	kidney:	n/a	n/a
34	USF2	chr7:150782591-150783119	Hela-S3	cervix:	n/a	chr7:150782808-150782819
35	MYC	chr7:150782461-150783719	K562	blood:	n/a	chr7:150782810-150782819 chr7:150782805-150782824 chr7:150782809-150782819 chr7:150782810-150782819 chr7:150782809-150782820 chr7:150783586-150783596 chr7:150782810-150782819 chr7:150782810-150782820
36	POLR2A	chr7:150782684-150787036	HUVEC	blood vessel:	n/a	n/a
37	MAX	chr7:150781901-150783891	K562	blood:	n/a	chr7:150782810-150782819 chr7:150782805-150782824 chr7:150782809-150782819 chr7:150782810-150782819 chr7:150782809-150782820 chr7:150783586-150783596 chr7:150782810-150782819 chr7:150782810-150782820
38	USF1	chr7:150782663-150783027	SK-N-SH_RA	brain:	n/a	chr7:150782808-150782819
39	MXI1	chr7:150782630-150783166	H1-hESC	embryonic stem cell:	n/a	chr7:150782809-150782818 chr7:150782811-150782820
40	POLR2A	chr7:150782538-150783754	K562	blood:	n/a	n/a
41	SIN3A	chr7:150782432-150783752	H1-hESC	embryonic stem cell:	n/a	chr7:150782809-150782818 chr7:150782811-150782820
42	SIN3AK20	chr7:150782490-150783687	MCF-7	breast:	n/a	n/a
43	MXI1	chr7:150781826-150785809	IMR90	lung:	n/a	chr7:150782809-150782818 chr7:150782811-150782820
44	ZBTB7A	chr7:150782243-150783575	K562	blood:	n/a	n/a
45	MAFK	chr7:150782663-150782884	K562	blood:	n/a	n/a
46	ZMIZ1	chr7:150782465-150783701	K562	blood:	n/a	n/a
47	MAX	chr7:150782574-150783737	ECC-1	luminal epithelium:	n/a	chr7:150782810-150782819 chr7:150782805-150782824 chr7:150782809-150782819 chr7:150782810-150782819 chr7:150782809-150782820 chr7:150783586-150783596 chr7:150782810-150782819 chr7:150782810-150782820
48	POLR2A	chr7:150782600-150783650	HepG2	liver:	n/a	n/a
49	MAX	chr7:150782660-150783861	HepG2	liver:	n/a	chr7:150782810-150782819 chr7:150782805-150782824 chr7:150782809-150782819 chr7:150782810-150782819 chr7:150782809-150782820 chr7:150783586-150783596 chr7:150782810-150782819 chr7:150782810-150782820
50	RCOR1	chr7:150782407-150783344	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150781128..150782793-chr7:150928748..150931080,2	MCF-7	breast:
2	chr1:155049689..155051785-chr7:150780053..150782856,2	MCF-7	breast:
3	chr7:150781876..150784323-chr8:125460204..125463130,2	MCF-7	breast:
4	chr17:2239559..2240266-chr7:150782649..150783588,2	HCT-116	colon:

Variant related genes	Relation type
FASTK	TF binding region
AGAP3	TF binding region
TMUB1	TF binding region
ENSG00000167721	Chromatin interaction
ENSG00000183665	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000033100	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10267625	0.87[EUR][1000 genomes]
rs10279252	0.81[EUR][1000 genomes]
rs11542749	0.96[EUR][1000 genomes]
rs2229553	1.00[EUR][1000 genomes]
rs34762230	0.96[EUR][1000 genomes]
rs35662595	0.96[EUR][1000 genomes]
rs3815980	0.84[EUR][1000 genomes]
rs72617352	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
3	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
4	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
5	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
6	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
12	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
13	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
14	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
15	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
16	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
17	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
18	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
19	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
20	nsv889483	chr7:150773165-150787046	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
21	nsv889484	chr7:150774308-150787046	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
22	nsv889485	chr7:150774308-150788304	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
23	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
24	esv3343113	chr7:150782644-150785192	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150780800-150782800	Weak transcription	Aorta	Aorta
2	chr7:150781000-150783000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:150781000-150783000	Enhancers	Fetal Heart	heart
4	chr7:150781200-150782800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr7:150781200-150782800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr7:150781200-150782800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr7:150781200-150782800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr7:150781200-150782800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:150781200-150782800	Enhancers	Liver	Liver
10	chr7:150781200-150782800	Weak transcription	Psoas Muscle	Psoas
11	chr7:150781200-150782800	Weak transcription	NH-A	brain
12	chr7:150781200-150782800	Weak transcription	NHEK	skin
13	chr7:150782000-150782800	Enhancers	Fetal Intestine Small	intestine
14	chr7:150782000-150782800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr7:150782000-150783000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:150782200-150782800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:150782200-150782800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:150782200-150782800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr7:150782200-150782800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr7:150782200-150782800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:150782200-150783000	Flanking Active TSS	Hela-S3	cervix
22	chr7:150782200-150783200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:150782200-150783200	Enhancers	Stomach Mucosa	stomach
24	chr7:150782200-150783200	Flanking Active TSS	K562	blood
25	chr7:150782200-150783400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:150782400-150782800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:150782400-150782800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
28	chr7:150782400-150782800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
29	chr7:150782400-150782800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
30	chr7:150782400-150782800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
31	chr7:150782400-150782800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:150782400-150782800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:150782400-150782800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:150782400-150782800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr7:150782400-150782800	Bivalent Enhancer	Primary T cells from cord blood	blood
36	chr7:150782400-150782800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr7:150782400-150782800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
38	chr7:150782400-150782800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:150782400-150782800	Enhancers	Brain Angular Gyrus	brain
40	chr7:150782400-150782800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr7:150782400-150782800	Enhancers	Brain Substantia Nigra	brain
42	chr7:150782400-150782800	Bivalent Enhancer	Fetal Thymus	thymus
43	chr7:150782400-150782800	Enhancers	Left Ventricle	heart
44	chr7:150782400-150782800	Enhancers	Pancreas	Pancrea
45	chr7:150782400-150782800	Enhancers	Right Atrium	heart
46	chr7:150782400-150782800	Enhancers	Spleen	Spleen
47	chr7:150782400-150782800	Enhancers	HMEC	breast
48	chr7:150782400-150782800	Enhancers	HUVEC	blood vessel
49	chr7:150782400-150783000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:150782400-150783000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links