Variant report

Variant	rs147999828
Chromosome Location	chr9:94902998-94902999
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	E2F6	chr9:94902628-94903008	A549	lung:	n/a	chr9:94902748-94902759
2	MAX	chr9:94902586-94903110	HepG2	liver:	n/a	n/a
3	MAX	chr9:94902560-94903108	HCT-116	colon:	n/a	n/a
4	MAX	chr9:94902565-94903100	A549	lung:	n/a	n/a
5	MXI1	chr9:94902467-94903909	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr9:94902444-94903129	HCT-116	colon:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
7	RAD21	chr9:94902503-94903189	HCT-116	colon:	n/a	chr9:94902741-94902755 chr9:94902740-94902759 chr9:94902741-94902750
8	MAX	chr9:94902556-94903030	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr9:94902611-94903031	A549	lung:	n/a	chr9:94902741-94902755 chr9:94902740-94902759 chr9:94902741-94902750
10	MAX	chr9:94902450-94903109	HCT-116	colon:	n/a	n/a
11	MAX	chr9:94902601-94903036	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr9:94902487-94903061	MCF-7	breast:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
13	RAD21	chr9:94902443-94903042	H1-hESC	embryonic stem cell:	n/a	chr9:94902741-94902755 chr9:94902740-94902759 chr9:94902741-94902750
14	MAX	chr9:94902555-94903023	SK-N-SH	brain:	n/a	n/a
15	SIN3AK20	chr9:94902575-94903027	A549	lung:	n/a	n/a
16	MXI1	chr9:94902085-94904234	IMR90	lung:	n/a	n/a
17	RAD21	chr9:94902471-94903084	ECC-1	luminal epithelium:	n/a	chr9:94902741-94902755 chr9:94902740-94902759 chr9:94902741-94902750
18	CTCF	chr9:94902489-94903023	MCF-7	breast:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
19	STAT5A	chr9:94902600-94903088	GM12878	blood:	n/a	n/a
20	MAX	chr9:94902516-94903031	ECC-1	luminal epithelium:	n/a	n/a
21	RAD21	chr9:94902515-94903008	MCF-7	breast:	n/a	chr9:94902741-94902755 chr9:94902740-94902759 chr9:94902741-94902750
22	HCFC1	chr9:94902650-94903059	K562	blood:	n/a	n/a
23	FOXM1	chr9:94902503-94903072	GM12878	blood:	n/a	n/a
24	RAD21	chr9:94902303-94903113	SK-N-SH	brain:	n/a	chr9:94902741-94902755 chr9:94902740-94902759 chr9:94902741-94902750
25	E2F6	chr9:94902515-94903099	A549	lung:	n/a	chr9:94902748-94902759
26	MAX	chr9:94902561-94903071	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr9:94902509-94903002	K562	blood:	n/a	n/a
28	SIN3AK20	chr9:94902628-94903007	H1-hESC	embryonic stem cell:	n/a	n/a
29	RAD21	chr9:94902429-94903109	MCF-7	breast:	n/a	chr9:94902741-94902755 chr9:94902740-94902759 chr9:94902741-94902750
30	MAX	chr9:94902627-94903202	ECC-1	luminal epithelium:	n/a	n/a
31	TCF12	chr9:94902530-94903151	A549	lung:	n/a	n/a
32	RUNX3	chr9:94902547-94903063	GM12878	blood:	n/a	n/a
33	MAX	chr9:94902485-94903094	MCF-7	breast:	n/a	n/a
34	RAD21	chr9:94902535-94903101	IMR90	lung:	n/a	chr9:94902741-94902755 chr9:94902740-94902759 chr9:94902741-94902750
35	CTCF	chr9:94902458-94903065	HCT-116	colon:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
36	RAD21	chr9:94902557-94903010	H1-hESC	embryonic stem cell:	n/a	chr9:94902741-94902755 chr9:94902740-94902759 chr9:94902741-94902750
37	SIN3A	chr9:94902559-94903727	H1-hESC	embryonic stem cell:	n/a	chr9:94902732-94902741
38	TEAD4	chr9:94902528-94903007	K562	blood:	n/a	n/a
39	SMC3	chr9:94902439-94903811	SK-N-SH	brain:	n/a	chr9:94902741-94902755 chr9:94902745-94902755
40	NR2F2	chr9:94902484-94903044	K562	blood:	n/a	n/a
41	CTCF	chr9:94902024-94903401	A549	lung:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
42	RAD21	chr9:94902470-94903168	HCT-116	colon:	n/a	chr9:94902741-94902755 chr9:94902740-94902759 chr9:94902741-94902750
43	RAD21	chr9:94902503-94903005	SK-N-SH_RA	brain:	n/a	chr9:94902741-94902755 chr9:94902740-94902759 chr9:94902741-94902750
44	MAX	chr9:94902580-94903070	MCF-7	breast:	n/a	n/a
45	CTCF	chr9:94902044-94903142	SK-N-SH	brain:	n/a	chr9:94902742-94902755 chr9:94902741-94902762 chr9:94902739-94902757 chr9:94902740-94902756 chr9:94902739-94902752
46	MAX	chr9:94902579-94903033	A549	lung:	n/a	n/a
47	CTCF	chr9:94902980-94903130	GM06990	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:94900325..94903739-chr9:94909399..94912070,4	MCF-7	breast:
2	chr9:94902262..94903203-chr9:95396707..95397642,2	K562	blood:
3	chr1:117477349..117478025-chr9:94902653..94903339,2	MCF-7	breast:
4	chr9:94902342..94903195-chr9:95004476..95005483,4	MCF-7	breast:
5	chr9:94901685..94904988-chr9:95003695..95006795,3	MCF-7	breast:
6	chr9:94898906..94903668-chr9:95086648..95090271,5	MCF-7	breast:
7	chr9:94902503..94903236-chr9:95396725..95397397,2	MCF-7	breast:
8	chr9:94902223..94905302-chr9:94908199..94910430,4	MCF-7	breast:
9	chr9:94902180..94903465-chr9:95004247..95005390,7	MCF-7	breast:

Variant related genes	Relation type
LINC00475	TF binding region
ENSG00000225511	Chromatin interaction
ENSG00000196305	Chromatin interaction
ENSG00000198000	Chromatin interaction
ENSG00000188312	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv969760	chr9:94877924-94966209	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv893572	chr9:94891778-94944778	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv972778	chr9:94902068-94908273	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94900000-94903000	Flanking Active TSS	HepG2	liver
2	chr9:94900200-94903200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:94900800-94903000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:94900800-94903000	Enhancers	HSMMtube	muscle
5	chr9:94902000-94903000	Enhancers	NHLF	lung
6	chr9:94902200-94903000	Enhancers	Placenta	Placenta
7	chr9:94902200-94903200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:94902200-94904200	Enhancers	Liver	Liver
9	chr9:94902400-94903000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr9:94902400-94903000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:94902400-94903000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr9:94902400-94903000	Enhancers	Spleen	Spleen
13	chr9:94902400-94903200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:94902400-94903200	Bivalent Enhancer	Fetal Stomach	stomach
15	chr9:94902600-94903000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:94902600-94903000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:94902600-94903000	Active TSS	Colon Smooth Muscle	Colon
18	chr9:94902600-94903000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr9:94902600-94903200	Bivalent Enhancer	Fetal Intestine Large	intestine
20	chr9:94902600-94903400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:94902600-94903600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr9:94902600-94903600	Bivalent Enhancer	Fetal Thymus	thymus
23	chr9:94902600-94903600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
24	chr9:94902800-94903000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
25	chr9:94902800-94903000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr9:94902800-94903000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:94902800-94903000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
28	chr9:94902800-94903000	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr9:94902800-94903000	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr9:94902800-94903000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
31	chr9:94902800-94903000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
32	chr9:94902800-94903000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr9:94902800-94903000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr9:94902800-94903000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:94902800-94903000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:94902800-94903000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:94902800-94903000	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr9:94902800-94903000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
39	chr9:94902800-94903000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:94902800-94903000	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr9:94902800-94903000	Flanking Active TSS	Colonic Mucosa	Colon
42	chr9:94902800-94903000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
43	chr9:94902800-94903000	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr9:94902800-94903000	Flanking Active TSS	Pancreas	Pancrea
45	chr9:94902800-94903000	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr9:94902800-94903000	Enhancers	Right Atrium	heart
47	chr9:94902800-94903000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
48	chr9:94902800-94903000	Bivalent Enhancer	Stomach Mucosa	stomach
49	chr9:94902800-94903000	Enhancers	Dnd41	blood
50	chr9:94902800-94903000	Flanking Active TSS	GM12878-XiMat	blood

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