Variant report

Variant	rs75660220
Chromosome Location	chr9:115874044-115874045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:141)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:141 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:115873960-115874110	Caco-2	colon:	n/a	n/a
2	CTCF	chr9:115873960-115874110	SAEC	small airway:	n/a	n/a
3	CTCF	chr9:115873940-115874090	GM12864	blood:	n/a	n/a
4	CTCF	chr9:115873855-115874128	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr9:115873940-115874090	K562	blood:	n/a	n/a
6	CTCF	chr9:115873940-115874090	GM12868	blood:	n/a	n/a
7	CTCF	chr9:115873842-115874376	A549	lung:	n/a	n/a
8	CTCF	chr9:115873763-115874162	GM12878	blood:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
9	CTCF	chr9:115873960-115874110	HCM	heart:	n/a	n/a
10	RAD21	chr9:115873873-115874071	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr9:115873686-115874068	LNCaP	prostate:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
12	CTCF	chr9:115873920-115874070	WI-38	lung:	n/a	n/a
13	CTCF	chr9:115873960-115874110	GM12872	blood:	n/a	n/a
14	CTCF	chr9:115873960-115874110	GM12865	blood:	n/a	n/a
15	CTCF	chr9:115873960-115874110	GM12873	blood:	n/a	n/a
16	CTCF	chr9:115873960-115874110	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr9:115873940-115874090	NHEK	skin:	n/a	n/a
18	CTCF	chr9:115873960-115874110	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr9:115873940-115874090	GM12801	blood:	n/a	n/a
20	CTCF	chr9:115873864-115874340	MCF-7	breast:	n/a	n/a
21	CTCF	chr9:115873960-115874110	AG09309	skin:	n/a	n/a
22	CTCF	chr9:115873900-115874050	AG04449	skin:	n/a	n/a
23	CTCF	chr9:115873920-115874070	HCT-116	colon:	n/a	n/a
24	FOXM1	chr9:115873646-115874094	GM12878	blood:	n/a	n/a
25	CTCF	chr9:115873960-115874110	AG10803	skin:	n/a	n/a
26	CTCF	chr9:115873960-115874110	HFF-Myc	foreskin:	n/a	n/a
27	POLR2A	chr9:115873553-115874107	GM12892	blood:	n/a	n/a
28	RAD21	chr9:115873837-115874115	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr9:115873568-115874077	A549	lung:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
30	CTCF	chr9:115873960-115874110	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr9:115873960-115874110	GM12867	blood:	n/a	n/a
32	CTCF	chr9:115873677-115874062	Spleen_OC	spleen:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
33	CTCF	chr9:115873960-115874110	HCFaa	heart:	n/a	n/a
34	CTCF	chr9:115873767-115874103	IMR90	lung:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
35	CTCF	chr9:115873960-115874110	A549	lung:	n/a	n/a
36	CTCF	chr9:115873940-115874090	GM12874	blood:	n/a	n/a
37	CTCF	chr9:115873940-115874090	HEK293	kidney:	n/a	n/a
38	CTCF	chr9:115873960-115874110	GM06990	blood:	n/a	n/a
39	CTCF	chr9:115873960-115874110	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr9:115873850-115874104	HepG2	liver:	n/a	n/a
41	CTCF	chr9:115873940-115874090	AG04449	skin:	n/a	n/a
42	RAD21	chr9:115873853-115874111	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr9:115873940-115874090	NHLF	lung:	n/a	n/a
44	CTCF	chr9:115873940-115874090	HRE	kidney:	n/a	n/a
45	CTCF	chr9:115873940-115874090	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr9:115873699-115874047	GM10248	blood:	n/a	chr9:115873826-115873839 chr9:115873826-115873839 chr9:115873825-115873841 chr9:115873824-115873842
47	CTCF	chr9:115873920-115874070	HL-60	blood:	n/a	n/a
48	CTCF	chr9:115873940-115874090	A549	lung:	n/a	n/a
49	CTCF	chr9:115873940-115874090	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr9:115873940-115874090	HMF	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:115874001-115874051	SKMC	muscle:	n/a
2	chr9:115874001-115874051	PFSK-1	brain:	n/a
3	chr9:115874001-115874051	HMEC	breast:	n/a
4	chr9:115874001-115874051	T-47D	breast:	n/a
5	chr9:115874001-115874051	HEEpiC	esophagus:	n/a
6	chr9:115874001-115874051	AG09309	skin:	n/a
7	chr9:115874001-115874051	NHBE	bronchial:	n/a
8	chr9:115874001-115874051	GM12891	blood:	n/a
9	chr9:115874001-115874051	AG04450	lung:	fetal
10	chr9:115874001-115874051	U87	brain:	n/a
11	chr9:115874001-115874051	HAEpiC	amniotic membrane:	n/a
12	chr9:115874001-115874051	AG04449	skin:	fetal
13	chr9:115874001-115874051	ECC-1	luminal epithelium:	n/a
14	chr9:115874001-115874051	HL-60	blood:	n/a
15	chr9:115874001-115874051	IMR90	lung:	fetal
16	chr9:115874001-115874051	GM12878	blood:	n/a
17	chr9:115874001-115874051	HIPEpiC	eye:	n/a
18	chr9:115874001-115874051	HRCEpiC	kidney:	n/a
19	chr9:115874001-115874051	SK-N-SH_RA	brain:	n/a
20	chr9:115874001-115874051	SK-N-MC	brain:	n/a
21	chr9:115874001-115874051	AoSMC	blood vessel:	n/a
22	chr9:115874001-115874051	HCM	heart:	n/a
23	chr9:115874001-115874051	GM12892	blood:	n/a
24	chr9:115874001-115874051	HRPEpiC	eye:	n/a
25	chr9:115874001-115874051	ovcar-3	ovarian:	n/a
26	chr9:115874001-115874051	HPAEpiC	pulmonary alveolar:	n/a
27	chr9:115874001-115874051	BJ	skin:	n/a
28	chr9:115874001-115874051	AG09319	gingival:	n/a
29	chr9:115874001-115874051	HNPCEpiC	eye:	n/a
30	chr9:115874001-115874051	NHDF-neo	bronchial:	n/a
31	chr9:115874001-115874051	GM06990	blood:	n/a
32	chr9:115874001-115874051	Hepatocyte	liver:	n/a
33	chr9:115874001-115874051	HCF	heart:	n/a
34	chr9:115874001-115874051	NB4	blood:	n/a
35	chr9:115874001-115874051	Caco-2	colon:	n/a
36	chr9:115874001-115874051	GM19239	blood:	n/a
37	chr9:115874001-115874051	ProgFib	skin:	n/a
38	chr9:115874001-115874051	PrEC	prostate:	n/a
39	chr9:115874001-115874051	Hela-S3	cervix:	n/a
40	chr9:115874001-115874051	HUVEC	blood vessel:	n/a
41	chr9:115874001-115874051	HRE	kidney:	n/a
42	chr9:115874001-115874051	NH-A	brain:	n/a
43	chr9:115874001-115874051	BE2_C	brain:	n/a
44	chr9:115874001-115874051	LNCaP	prostate:	n/a
45	chr9:115874001-115874051	HepG2	liver:	n/a
46	chr9:115874001-115874051	SAEC	small airway:	n/a
47	chr9:115874001-115874051	CMK	blood:	n/a
48	chr9:115874001-115874051	HEK293	kidney:	embryo
49	chr9:115874001-115874051	AG10803	skin:	n/a
50	chr9:115874001-115874051	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:115872624..115875532-chr9:115912017..115913734,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM225A	TF binding region
FAM225B	TF binding region
FAM225B	CpG island
FAM225A	CpG island
ENSG00000136867	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1047000	chr9:115610445-115884038	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv831691	chr9:115754699-115929459	Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv825051	chr9:115811606-115882022	ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv825052	chr9:115811634-115882048	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv893734	chr9:115815398-115891009	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv2757353	chr9:115815398-115892245	ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv2753302	chr9:115819870-115888112	ZNF genes & repeats Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv893735	chr9:115821854-115891009	ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv2421517	chr9:115852715-115874994	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv893736	chr9:115852715-115891009	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv893737	chr9:115852715-115893229	Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv893738	chr9:115852715-115894240	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1046217	chr9:115854339-115881588	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1042807	chr9:115854339-115883741	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1040513	chr9:115854339-115885060	Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv442164	chr9:115854351-115883753	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	esv2761253	chr9:115854351-115885060	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv893739	chr9:115859223-115891009	Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv893740	chr9:115860251-115891009	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv893741	chr9:115862518-115891009	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv893742	chr9:115867276-115910991	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
25	nsv893743	chr9:115867276-115917783	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	nsv982338	chr9:115868388-115874153	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115874000-115874200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr9:115874000-115874200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr9:115874000-115874200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
4	chr9:115874000-115874200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
5	chr9:115874000-115874200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
6	chr9:115874000-115874200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
7	chr9:115874000-115874200	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr9:115874000-115874200	Enhancers	Brain Cingulate Gyrus	brain
9	chr9:115874000-115874200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:115874000-115874200	Enhancers	Brain Substantia Nigra	brain
11	chr9:115874000-115874200	Enhancers	Placenta	Placenta
12	chr9:115874000-115874400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:115874000-115874400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:115874000-115874400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr9:115874000-115874400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:115874000-115874400	Enhancers	Brain Anterior Caudate	brain
17	chr9:115874000-115874400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr9:115874000-115874400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
19	chr9:115874000-115874400	Active TSS	HSMMtube	muscle
20	chr9:115874000-115874400	Active TSS	NH-A	brain
21	chr9:115874000-115874400	Flanking Active TSS	Osteobl	bone
22	chr9:115874000-115874600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
23	chr9:115874000-115874600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:115874000-115874600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr9:115874000-115874600	Enhancers	Spleen	Spleen
26	chr9:115874000-115875000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr9:115874000-115875000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:115874000-115875000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr9:115874000-115875000	Enhancers	NHEK	skin
30	chr9:115874000-115875200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:115874000-115875200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr9:115874000-115875200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr9:115874000-115875200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:115874000-115875200	Enhancers	Brain Hippocampus Middle	brain
35	chr9:115874000-115875200	Enhancers	HMEC	breast
36	chr9:115874000-115875200	Enhancers	HSMM	muscle

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