Variant report

Variant	rs7044650
Chromosome Location	chr9:97402557-97402558
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr9:97402108-97403283	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF12	chr9:97402362-97402607	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr9:97400579-97402724	MCF-7	breast:	n/a	chr9:97402273-97402284 chr9:97402335-97402344 chr9:97401961-97401971 chr9:97402180-97402190 chr9:97401965-97401974
4	MAX	chr9:97402025-97402668	H1-hESC	embryonic stem cell:	n/a	chr9:97402273-97402284 chr9:97402335-97402344 chr9:97402180-97402190
5	BACH1	chr9:97402359-97402724	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr9:97402303-97402686	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr9:97401229-97402727	H1-hESC	embryonic stem cell:	n/a	chr9:97402273-97402284 chr9:97402335-97402344 chr9:97401961-97401971 chr9:97402180-97402190 chr9:97401965-97401974
8	NANOG	chr9:97402330-97402726	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr9:97401850-97402686	H1-hESC	embryonic stem cell:	n/a	chr9:97401972-97401983
10	GTF2F1	chr9:97402402-97402618	H1-hESC	embryonic stem cell:	n/a	n/a
11	NANOG	chr9:97402403-97402688	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAFK	chr9:97402427-97402782	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr9:97402246-97402685	HUVEC	blood vessel:	n/a	n/a
14	MAX	chr9:97402021-97402647	H1-hESC	embryonic stem cell:	n/a	chr9:97402273-97402284 chr9:97402335-97402344 chr9:97402180-97402190
15	TCF12	chr9:97402282-97402738	H1-hESC	embryonic stem cell:	n/a	n/a
16	SUZ12	chr9:97400708-97402723	NT2-D1	testis:	n/a	n/a
17	MYC	chr9:97402493-97402588	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:97402555-97402605	HCM	heart:	n/a
2	chr9:97402555-97402605	HL-60	blood:	n/a
3	chr9:97402555-97402605	NB4	blood:	n/a
4	chr9:97402555-97402605	MCF-7	breast:	n/a
5	chr9:97402555-97402605	SK-N-MC	brain:	n/a
6	chr9:97402555-97402605	U87	brain:	n/a
7	chr9:97402555-97402605	T-47D	breast:	n/a
8	chr9:97402555-97402605	ProgFib	skin:	n/a
9	chr9:97402555-97402605	SAEC	small airway:	n/a
10	chr9:97402555-97402605	CMK	blood:	n/a
11	chr9:97402555-97402605	K562	blood:	n/a
12	chr9:97402555-97402605	SK-N-SH	brain:	n/a
13	chr9:97402555-97402605	HCPEpiC	choroid plexus:	n/a
14	chr9:97402555-97402605	NT2-D1	testis:	n/a
15	chr9:97402555-97402605	H1-hESC	embryonic stem cell:	embryo
16	chr9:97402555-97402605	HEEpiC	esophagus:	n/a
17	chr9:97402555-97402605	LNCaP	prostate:	n/a
18	chr9:97402555-97402605	Caco-2	colon:	n/a
19	chr9:97402555-97402605	SKMC	muscle:	n/a
20	chr9:97402555-97402605	A549	lung:	n/a
21	chr9:97402555-97402605	HPAEpiC	pulmonary alveolar:	n/a
22	chr9:97402555-97402605	BJ	skin:	n/a
23	chr9:97402555-97402605	AoSMC	blood vessel:	n/a
24	chr9:97402555-97402605	HMEC	breast:	n/a
25	chr9:97402555-97402605	HCT-116	colon:	n/a
26	chr9:97402555-97402605	NHBE	bronchial:	n/a
27	chr9:97402555-97402605	PFSK-1	brain:	n/a
28	chr9:97402555-97402605	HRCEpiC	kidney:	n/a
29	chr9:97402555-97402605	GM12891	blood:	n/a
30	chr9:97402555-97402605	HIPEpiC	eye:	n/a
31	chr9:97402555-97402605	ECC-1	luminal epithelium:	n/a
32	chr9:97402555-97402605	GM12878	blood:	n/a
33	chr9:97402555-97402605	HNPCEpiC	eye:	n/a
34	chr9:97402555-97402605	BE2_C	brain:	n/a
35	chr9:97402555-97402605	Hela-S3	cervix:	n/a
36	chr9:97402555-97402605	HRE	kidney:	n/a
37	chr9:97402555-97402605	AG10803	skin:	n/a
38	chr9:97402555-97402605	HAEpiC	amniotic membrane:	n/a
39	chr9:97402555-97402605	AG04449	skin:	fetal
40	chr9:97402555-97402605	GM06990	blood:	n/a
41	chr9:97402555-97402605	AG09319	gingival:	n/a
42	chr9:97402555-97402605	PANC-1	pancreas:	n/a
43	chr9:97402555-97402605	NHDF-neo	bronchial:	n/a
44	chr9:97402555-97402605	GM19239	blood:	n/a
45	chr9:97402555-97402605	AG04450	lung:	fetal
46	chr9:97402555-97402605	HUVEC	blood vessel:	n/a
47	chr9:97402555-97402605	AG09309	skin:	n/a
48	chr9:97402555-97402605	Hepatocyte	liver:	n/a
49	chr9:97402555-97402605	RPTEC	kidney:	n/a
50	chr9:97402555-97402605	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97316754..97318987-chr9:97400777..97403144,3	MCF-7	breast:

No data

Variant related genes	Relation type
FBP1	TF binding region
FBP1	CpG island
ENSG00000231806	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12345842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1536859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1536860	0.86[EUR][1000 genomes]
rs1769251	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2679606	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2790389	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2987899	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2987900	0.97[EUR][1000 genomes]
rs2993965	1.00[AFR][1000 genomes]
rs6479559	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67894593	0.97[EUR][1000 genomes]
rs7025253	0.97[EUR][1000 genomes]
rs7041552	0.84[EUR][1000 genomes]
rs781648	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs781649	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv614918	chr9:97380597-97412037	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv893597	chr9:97380597-97463435	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97401000-97402600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr9:97401000-97402600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr9:97401000-97402600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:97401000-97402600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:97401000-97402600	Active TSS	Rectal Smooth Muscle	rectum
6	chr9:97401000-97402800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr9:97401000-97402800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr9:97401000-97403000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr9:97401200-97402600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:97401200-97402600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr9:97401400-97402600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
12	chr9:97401400-97402600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr9:97401400-97402800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr9:97401600-97402600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr9:97401600-97402600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr9:97401600-97402800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr9:97401600-97403000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:97401800-97402600	Active TSS	GM12878-XiMat	blood
19	chr9:97402000-97402600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:97402000-97402600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr9:97402000-97402600	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr9:97402000-97402600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
23	chr9:97402000-97402600	Flanking Active TSS	Stomach Mucosa	stomach
24	chr9:97402000-97402800	Active TSS	HepG2	liver
25	chr9:97402200-97402600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr9:97402200-97402600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr9:97402200-97402600	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr9:97402200-97402600	Enhancers	Fetal Lung	lung
29	chr9:97402200-97402600	Enhancers	Gastric	stomach
30	chr9:97402200-97402600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr9:97402200-97402600	Enhancers	HUVEC	blood vessel
32	chr9:97402200-97402800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr9:97402200-97402800	Enhancers	Small Intestine	intestine
34	chr9:97402200-97403000	Flanking Active TSS	Liver	Liver
35	chr9:97402200-97403000	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr9:97402200-97403000	Enhancers	Lung	lung
37	chr9:97402200-97403200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr9:97402200-97403400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:97402200-97410400	Weak transcription	Esophagus	oesophagus
40	chr9:97402400-97402600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:97402400-97402600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:97402400-97402600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr9:97402400-97402600	Bivalent Enhancer	Primary T cells from cord blood	blood
44	chr9:97402400-97402600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
45	chr9:97402400-97402600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr9:97402400-97402600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr9:97402400-97402600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr9:97402400-97402600	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr9:97402400-97402600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr9:97402400-97402600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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