Variant report

Variant	rs151226243
Chromosome Location	chr9:2623705-2623706
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	CTBP2	chr9:2622199-2623772	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF12	chr9:2623235-2624133	A549	lung:	n/a	chr9:2623379-2623386
3	POLR2A	chr9:2622966-2623753	H1-hESC	embryonic stem cell:	n/a	n/a
4	EBF1	chr9:2623221-2623733	GM12878	blood:	n/a	n/a
5	REST	chr9:2620800-2623973	H1-neurons	neurons:	n/a	chr9:2621948-2621961 chr9:2622878-2622891 chr9:2621769-2621787 chr9:2621771-2621784 chr9:2622822-2622842
6	SP1	chr9:2623405-2624089	A549	lung:	n/a	chr9:2623626-2623647
7	USF2	chr9:2623413-2623849	HepG2	liver:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
8	RAD21	chr9:2623433-2623943	IMR90	lung:	n/a	n/a
9	USF2	chr9:2623039-2623861	H1-hESC	embryonic stem cell:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
10	USF1	chr9:2623337-2623888	A549	lung:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
11	POLR2A	chr9:2622073-2625205	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr9:2623423-2623795	A549	lung:	n/a	n/a
13	MAX	chr9:2623350-2623772	HUVEC	blood vessel:	n/a	chr9:2623485-2623494 chr9:2623484-2623495 chr9:2623484-2623495 chr9:2623668-2623678
14	SP1	chr9:2623314-2624112	A549	lung:	n/a	chr9:2623626-2623647
15	MAX	chr9:2623483-2623849	NB4	blood:	n/a	chr9:2623485-2623494 chr9:2623484-2623495 chr9:2623484-2623495 chr9:2623668-2623678
16	MAX	chr9:2620942-2624127	A549	lung:	n/a	chr9:2623485-2623494 chr9:2623484-2623495 chr9:2623484-2623495 chr9:2623668-2623678
17	USF1	chr9:2623291-2623870	SK-N-SH_RA	brain:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
18	MAX	chr9:2623141-2623846	GM12878	blood:	n/a	chr9:2623485-2623494 chr9:2623484-2623495 chr9:2623484-2623495 chr9:2623668-2623678
19	USF1	chr9:2623366-2623775	HepG2	liver:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
20	REST	chr9:2623468-2623746	SK-N-SH	brain:	n/a	n/a
21	RAD21	chr9:2623589-2623998	A549	lung:	n/a	n/a
22	MAX	chr9:2623068-2623935	H1-hESC	embryonic stem cell:	n/a	chr9:2623485-2623494 chr9:2623484-2623495 chr9:2623484-2623495 chr9:2623668-2623678
23	USF1	chr9:2623263-2623827	A549	lung:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
24	USF1	chr9:2623318-2623790	HepG2	liver:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
25	CHD2	chr9:2623655-2623720	HepG2	liver:	n/a	n/a
26	MAX	chr9:2623293-2623869	SK-N-SH	brain:	n/a	chr9:2623485-2623494 chr9:2623484-2623495 chr9:2623484-2623495 chr9:2623668-2623678
27	BHLHE40	chr9:2623345-2623847	A549	lung:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
28	MYC	chr9:2623601-2623719	HUVEC	blood vessel:	n/a	chr9:2623668-2623678
29	MAX	chr9:2623087-2623873	H1-hESC	embryonic stem cell:	n/a	chr9:2623485-2623494 chr9:2623484-2623495 chr9:2623484-2623495 chr9:2623668-2623678
30	USF1	chr9:2623229-2623867	SK-N-SH_RA	brain:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
31	USF1	chr9:2623193-2623903	H1-hESC	embryonic stem cell:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
32	GTF2F1	chr9:2623580-2623751	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAZ	chr9:2620701-2624354	IMR90	lung:	n/a	chr9:2623485-2623494 chr9:2623484-2623495 chr9:2623484-2623495
34	E2F6	chr9:2622931-2623908	A549	lung:	n/a	n/a
35	CHD2	chr9:2623436-2623773	H1-hESC	embryonic stem cell:	n/a	n/a
36	TAF1	chr9:2623199-2623830	H1-hESC	embryonic stem cell:	n/a	n/a
37	USF1	chr9:2623213-2623799	SK-N-SH	brain:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
38	JUND	chr9:2623581-2623829	H1-hESC	embryonic stem cell:	n/a	n/a
39	USF1	chr9:2623326-2623990	A549	lung:	n/a	chr9:2623484-2623493 chr9:2623485-2623494 chr9:2623485-2623494
40	ATF3	chr9:2623434-2623749	H1-hESC	embryonic stem cell:	n/a	chr9:2623474-2623494
41	CEBPB	chr9:2623648-2624167	A549	lung:	n/a	chr9:2623970-2623983
42	E2F6	chr9:2623030-2623960	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr9:2623210-2623869	SK-N-SH	brain:	n/a	chr9:2623485-2623494 chr9:2623484-2623495 chr9:2623484-2623495 chr9:2623668-2623678
44	MAX	chr9:2622952-2623801	HepG2	liver:	n/a	chr9:2623485-2623494 chr9:2623484-2623495 chr9:2623484-2623495 chr9:2623668-2623678
45	MXI1	chr9:2622615-2623833	GM12878	blood:	n/a	n/a
46	E2F6	chr9:2623403-2623822	A549	lung:	n/a	n/a
47	E2F6	chr9:2623192-2623889	H1-hESC	embryonic stem cell:	n/a	n/a
48	MXI1	chr9:2619904-2624722	SK-N-SH	brain:	n/a	n/a
49	CEBPB	chr9:2623681-2624674	A549	lung:	n/a	chr9:2624483-2624494 chr9:2624485-2624496 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2623970-2623983 chr9:2624485-2624494 chr9:2624485-2624494 chr9:2624485-2624496 chr9:2624483-2624496 chr9:2624483-2624496 chr9:2624483-2624496
50	SIN3A	chr9:2620917-2624227	H1-hESC	embryonic stem cell:	n/a	chr9:2621427-2621438 chr9:2623544-2623553 chr9:2621915-2621924

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:2623684-2623734	ProgFib	skin:	n/a
2	chr9:2623684-2623734	HUVEC	blood vessel:	n/a
3	chr9:2623684-2623734	HEK293	kidney:	embryo
4	chr9:2623684-2623734	HL-60	blood:	n/a
5	chr9:2623684-2623734	A549	lung:	n/a
6	chr9:2623684-2623734	SK-N-MC	brain:	n/a
7	chr9:2623684-2623734	SK-N-SH	brain:	n/a
8	chr9:2623684-2623734	AG04450	lung:	fetal
9	chr9:2623684-2623734	HCM	heart:	n/a
10	chr9:2623684-2623734	K562	blood:	n/a
11	chr9:2623684-2623734	HNPCEpiC	eye:	n/a
12	chr9:2623684-2623734	SKMC	muscle:	n/a
13	chr9:2623684-2623734	ovcar-3	ovarian:	n/a
14	chr9:2623684-2623734	HIPEpiC	eye:	n/a
15	chr9:2623684-2623734	HMEC	breast:	n/a
16	chr9:2623684-2623734	RPTEC	kidney:	n/a
17	chr9:2623684-2623734	U87	brain:	n/a
18	chr9:2623684-2623734	HCPEpiC	choroid plexus:	n/a
19	chr9:2623684-2623734	GM12892	blood:	n/a
20	chr9:2623684-2623734	Jurkat	blood:	n/a
21	chr9:2623684-2623734	AG04449	skin:	fetal
22	chr9:2623684-2623734	GM12891	blood:	n/a
23	chr9:2623684-2623734	AG09309	skin:	n/a
24	chr9:2623684-2623734	HEEpiC	esophagus:	n/a
25	chr9:2623684-2623734	HAEpiC	amniotic membrane:	n/a
26	chr9:2623684-2623734	AG09319	gingival:	n/a
27	chr9:2623684-2623734	MCF-7	breast:	n/a
28	chr9:2623684-2623734	Caco-2	colon:	n/a
29	chr9:2623684-2623734	AG10803	skin:	n/a
30	chr9:2623684-2623734	SAEC	small airway:	n/a
31	chr9:2623684-2623734	HRCEpiC	kidney:	n/a
32	chr9:2623684-2623734	GM19239	blood:	n/a
33	chr9:2623684-2623734	PFSK-1	brain:	n/a
34	chr9:2623684-2623734	LNCaP	prostate:	n/a
35	chr9:2623684-2623734	T-47D	breast:	n/a
36	chr9:2623684-2623734	GM06990	blood:	n/a
37	chr9:2623684-2623734	ECC-1	luminal epithelium:	n/a
38	chr9:2623684-2623734	NH-A	brain:	n/a
39	chr9:2623684-2623734	NHBE	bronchial:	n/a
40	chr9:2623684-2623734	IMR90	lung:	fetal
41	chr9:2623684-2623734	NT2-D1	testis:	n/a
42	chr9:2623684-2623734	SK-N-SH_RA	brain:	n/a
43	chr9:2623684-2623734	AoSMC	blood vessel:	n/a
44	chr9:2623684-2623734	BJ	skin:	n/a
45	chr9:2623684-2623734	HCF	heart:	n/a
46	chr9:2623684-2623734	CMK	blood:	n/a
47	chr9:2623684-2623734	NHDF-neo	bronchial:	n/a
48	chr9:2623684-2623734	PANC-1	pancreas:	n/a
49	chr9:2623684-2623734	MCF10A-Er-Src	breast:	n/a
50	chr9:2623684-2623734	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:2622798..2625667-chr9:2640741..2642429,2	K562	blood:
2	chr9:2620987..2624573-chr9:2639977..2643677,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236404	TF binding region
ENSG00000236404	CpG island
ENSG00000236404	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020530	chr9:1870197-2658587	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv529508	chr9:2267812-2684272	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv916750	chr9:2430846-2826706	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv531564	chr9:2452325-2700375	Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1017581	chr9:2494815-3172020	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv539934	chr9:2494815-3172020	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv1029876	chr9:2526760-2633562	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv892069	chr9:2600836-2631738	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv892070	chr9:2610307-2633921	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv892071	chr9:2618969-2626031	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv892073	chr9:2620592-2627365	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv527298	chr9:2621030-2631092	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv892074	chr9:2623615-2629776	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2619800-2624000	Active TSS	Ovary	ovary
2	chr9:2620000-2624000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr9:2620000-2624200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:2620400-2623800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr9:2620600-2624000	Active TSS	Right Atrium	heart
6	chr9:2620600-2624200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr9:2620800-2623800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:2620800-2623800	Active TSS	Brain Angular Gyrus	brain
9	chr9:2620800-2623800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr9:2620800-2623800	Active TSS	A549	lung
11	chr9:2620800-2624000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:2620800-2624000	Active TSS	Fetal Kidney	kidney
13	chr9:2620800-2624400	Active TSS	Right Ventricle	heart
14	chr9:2621000-2623800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:2621000-2623800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:2621000-2623800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr9:2621000-2623800	Active TSS	Psoas Muscle	Psoas
18	chr9:2621000-2623800	Active TSS	NHLF	lung
19	chr9:2621000-2624000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr9:2621000-2624000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:2621000-2624200	Active TSS	Aorta	Aorta
22	chr9:2621000-2624200	Active TSS	Left Ventricle	heart
23	chr9:2621200-2623800	Active TSS	Brain Cingulate Gyrus	brain
24	chr9:2621200-2623800	Active TSS	Esophagus	oesophagus
25	chr9:2621200-2623800	Active TSS	Gastric	stomach
26	chr9:2621200-2623800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
27	chr9:2621400-2623800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr9:2621400-2623800	Active TSS	Brain Substantia Nigra	brain
29	chr9:2621400-2623800	Active TSS	Fetal Lung	lung
30	chr9:2621400-2623800	Active TSS	Placenta Amnion	Placenta Amnion
31	chr9:2621400-2624000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:2621400-2624000	Active TSS	Fetal Brain Male	brain
33	chr9:2621400-2624200	Active TSS	Pancreas	Pancrea
34	chr9:2621400-2624800	Active TSS	Stomach Smooth Muscle	stomach
35	chr9:2622200-2623800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:2622200-2623800	Flanking Active TSS	Placenta	Placenta
37	chr9:2622200-2624000	Flanking Active TSS	Liver	Liver
38	chr9:2622400-2623800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr9:2622400-2623800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr9:2622800-2623800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
41	chr9:2622800-2623800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr9:2622800-2623800	Bivalent/Poised TSS	HSMM	muscle
43	chr9:2623000-2623800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:2623000-2623800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
45	chr9:2623000-2623800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:2623000-2623800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
47	chr9:2623000-2623800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr9:2623000-2623800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
49	chr9:2623000-2623800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
50	chr9:2623000-2623800	Flanking Bivalent TSS/Enh	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links