Variant report

Variant	rs552045329
Chromosome Location	chr7:150675618-150675619
allele	A/G
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	RCOR1	chr7:150675352-150676652	K562	blood:	n/a	n/a
2	YY1	chr7:150675417-150675827	H1-hESC	embryonic stem cell:	n/a	n/a
3	NFYB	chr7:150675385-150675806	K562	blood:	n/a	chr7:150675530-150675542 chr7:150675529-150675539 chr7:150675526-150675541 chr7:150675526-150675541 chr7:150675527-150675541
4	ZNF263	chr7:150675551-150676770	HEK293-T-REx	kidney:	n/a	chr7:150676560-150676569
5	CCNT2	chr7:150674965-150675820	K562	blood:	n/a	chr7:150675703-150675712
6	EGR1	chr7:150675537-150675832	K562	blood:	n/a	chr7:150675698-150675711
7	MAZ	chr7:150675175-150676745	IMR90	lung:	n/a	chr7:150676336-150676346
8	SP4	chr7:150675472-150675811	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr7:150675567-150675866	NB4	blood:	n/a	n/a
10	MAX	chr7:150675578-150676363	NB4	blood:	n/a	chr7:150676336-150676346
11	TAF1	chr7:150675497-150675817	H1-neurons	neurons:	n/a	n/a
12	MXI1	chr7:150667686-150678267	SK-N-SH	brain:	n/a	chr7:150668498-150668513 chr7:150668500-150668515
13	MYC	chr7:150675337-150675666	K562	blood:	n/a	n/a
14	E2F6	chr7:150675052-150675634	K562	blood:	n/a	chr7:150675224-150675234 chr7:150675223-150675232
15	POLR2A	chr7:150675461-150675952	SK-N-MC	brain:	n/a	n/a
16	REST	chr7:150674299-150677276	H1-neurons	neurons:	n/a	chr7:150676665-150676685 chr7:150676666-150676684 chr7:150676421-150676434 chr7:150675568-150675581 chr7:150676665-150676685 chr7:150676295-150676315
17	TEAD4	chr7:150675478-150676738	K562	blood:	n/a	n/a
18	TAF1	chr7:150675354-150676588	H1-neurons	neurons:	n/a	n/a
19	MAX	chr7:150675588-150675625	K562	blood:	n/a	n/a
20	GABPA	chr7:150675336-150676853	K562	blood:	n/a	chr7:150676550-150676559 chr7:150676406-150676415
21	RCOR1	chr7:150675569-150675769	K562	blood:	n/a	n/a
22	POLR2A	chr7:150674435-150677141	H1-neurons	neurons:	n/a	n/a
23	MAX	chr7:150675452-150675992	ECC-1	luminal epithelium:	n/a	n/a
24	YY1	chr7:150675592-150675749	K562	blood:	n/a	n/a
25	TEAD4	chr7:150675581-150676266	K562	blood:	n/a	n/a
26	MAZ	chr7:150675337-150676410	GM12878	blood:	n/a	chr7:150676336-150676346
27	HDAC2	chr7:150675479-150675927	K562	blood:	n/a	chr7:150675890-150675904
28	SP1	chr7:150675449-150675820	H1-hESC	embryonic stem cell:	n/a	chr7:150675682-150675696 chr7:150675519-150675540
29	MAX	chr7:150674899-150676732	K562	blood:	n/a	chr7:150676336-150676346
30	TCF12	chr7:150675546-150675752	H1-hESC	embryonic stem cell:	n/a	n/a
31	NR2F2	chr7:150675422-150676612	K562	blood:	n/a	n/a
32	MAX	chr7:150675399-150676030	H1-hESC	embryonic stem cell:	n/a	n/a
33	SIN3A	chr7:150675066-150676870	H1-hESC	embryonic stem cell:	n/a	chr7:150676337-150676350
34	CBX3	chr7:150675464-150676565	K562	blood:	n/a	n/a
35	EBF1	chr7:150675613-150675627	GM12878	blood:	n/a	n/a
36	TCF12	chr7:150675321-150675903	ECC-1	luminal epithelium:	n/a	n/a
37	EGR1	chr7:150675224-150675875	K562	blood:	n/a	chr7:150675698-150675711
38	ZBTB7A	chr7:150674547-150676739	K562	blood:	n/a	n/a
39	IRF1	chr7:150675505-150675754	K562	blood:	n/a	chr7:150675530-150675539
40	RAD21	chr7:150675446-150678328	SK-N-SH	brain:	n/a	chr7:150676868-150676887 chr7:150677600-150677610
41	E2F6	chr7:150675494-150676067	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr7:150675514-150675810	K562	blood:	n/a	n/a
43	ZBTB7A	chr7:150675303-150676497	ECC-1	luminal epithelium:	n/a	n/a
44	MAX	chr7:150675384-150676295	H1-hESC	embryonic stem cell:	n/a	n/a
45	SIN3AK20	chr7:150675495-150675819	H1-hESC	embryonic stem cell:	n/a	n/a
46	SP1	chr7:150675455-150676517	H1-hESC	embryonic stem cell:	n/a	chr7:150676328-150676340 chr7:150676330-150676339 chr7:150676329-150676339 chr7:150675682-150675696 chr7:150676329-150676338 chr7:150676329-150676343 chr7:150676328-150676340 chr7:150675519-150675540
47	RCOR1	chr7:150675618-150675818	GM12878	blood:	n/a	n/a
48	CTCF	chr7:150675520-150675670	Caco-2	colon:	n/a	n/a
49	POLR2A	chr7:150675182-150676364	Raji	blood:	n/a	n/a
50	ZC3H11A	chr7:150675553-150675732	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150675423..150678179-chr7:150678935..150681223,3	MCF-7	breast:
2	chr7:150019591..150022356-chr7:150674947..150677441,2	K562	blood:
3	chr7:150673570..150675827-chr7:150725848..150727398,2	MCF-7	breast:
4	chr7:150669264..150677850-chr7:150681612..150689209,13	MCF-7	breast:
5	chr7:150654740..150658307-chr7:150674264..150676481,3	MCF-7	breast:

Variant related genes	Relation type
KCNH2	TF binding region
ENSG00000055118	Chromatin interaction
ENSG00000164867	Chromatin interaction
ENSG00000127399	Chromatin interaction
ENSG00000106526	Chromatin interaction
ENSG00000243433	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	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
8	nsv889466	chr7:150642341-150687430	Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
15	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
16	nsv609002	chr7:150667210-150678080	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
17	nsv889470	chr7:150667210-150696111	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
18	nsv8231	chr7:150671367-150681014	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
19	esv3339760	chr7:150673844-150676392	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
20	esv3331100	chr7:150674019-150676492	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
21	esv3403395	chr7:150674469-150676667	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150673600-150676600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:150674200-150676000	Active TSS	Left Ventricle	heart
3	chr7:150674200-150676400	Active TSS	Right Atrium	heart
4	chr7:150674600-150676000	Enhancers	Liver	Liver
5	chr7:150674600-150676400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr7:150674600-150676600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:150674600-150676600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:150674600-150676600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:150674600-150676600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:150674600-150676600	Enhancers	Primary hematopoietic stem cells	blood
11	chr7:150674600-150676800	Active TSS	Fetal Brain Female	brain
12	chr7:150674800-150676000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:150674800-150676000	Active TSS	HSMMtube	muscle
14	chr7:150674800-150676600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr7:150674800-150676600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:150674800-150676600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr7:150674800-150676600	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:150674800-150676600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr7:150674800-150676600	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr7:150674800-150676600	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr7:150674800-150676600	Active TSS	Brain Cingulate Gyrus	brain
22	chr7:150674800-150676600	Active TSS	Brain Germinal Matrix	brain
23	chr7:150674800-150676800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr7:150674800-150676800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:150675200-150676000	Bivalent/Poised TSS	HMEC	breast
26	chr7:150675200-150676400	Active TSS	Aorta	Aorta
27	chr7:150675200-150676600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:150675200-150676600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:150675200-150676800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
30	chr7:150675400-150677400	Enhancers	Spleen	Spleen
31	chr7:150675600-150675800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:150675600-150675800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:150675600-150675800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:150675600-150675800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
35	chr7:150675600-150675800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:150675600-150675800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr7:150675600-150675800	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr7:150675600-150675800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
39	chr7:150675600-150675800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
40	chr7:150675600-150675800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:150675600-150675800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:150675600-150675800	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
43	chr7:150675600-150675800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
44	chr7:150675600-150675800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:150675600-150675800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:150675600-150675800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:150675600-150675800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:150675600-150675800	Flanking Active TSS	Esophagus	oesophagus
49	chr7:150675600-150675800	Flanking Bivalent TSS/Enh	Placenta	Placenta
50	chr7:150675600-150675800	Flanking Active TSS	Pancreas	Pancrea

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