Variant report

Variant	rs73222784
Chromosome Location	chr12:121088369-121088370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr12:121086718-121088458	SK-N-SH	brain:	n/a	chr12:121087170-121087183 chr12:121087167-121087186 chr12:121087171-121087181 chr12:121087169-121087181 chr12:121086760-121086770
2	MXI1	chr12:121086542-121088820	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121088368-121088418	T-47D	breast:	n/a
2	chr12:121088368-121088418	ECC-1	luminal epithelium:	n/a
3	chr12:121088368-121088418	IMR90	lung:	fetal
4	chr12:121088368-121088418	HCPEpiC	choroid plexus:	n/a
5	chr12:121088368-121088418	Hela-S3	cervix:	n/a
6	chr12:121088368-121088418	HEK293	kidney:	embryo
7	chr12:121088368-121088418	GM12892	blood:	n/a
8	chr12:121088368-121088418	HCT-116	colon:	n/a
9	chr12:121088368-121088418	SK-N-SH	brain:	n/a
10	chr12:121088368-121088418	HCF	heart:	n/a
11	chr12:121088368-121088418	HPAEpiC	pulmonary alveolar:	n/a
12	chr12:121088368-121088418	GM19239	blood:	n/a
13	chr12:121088368-121088418	GM12878	blood:	n/a
14	chr12:121088368-121088418	HMEC	breast:	n/a
15	chr12:121088368-121088418	AoSMC	blood vessel:	n/a
16	chr12:121088368-121088418	BE2_C	brain:	n/a
17	chr12:121088368-121088418	K562	blood:	n/a
18	chr12:121088368-121088418	HRE	kidney:	n/a
19	chr12:121088368-121088418	AG04450	lung:	fetal
20	chr12:121088368-121088418	HRCEpiC	kidney:	n/a
21	chr12:121088368-121088418	NHBE	bronchial:	n/a
22	chr12:121088368-121088418	SK-N-SH_RA	brain:	n/a
23	chr12:121088368-121088418	SAEC	small airway:	n/a
24	chr12:121088368-121088418	NB4	blood:	n/a
25	chr12:121088368-121088418	AG04449	skin:	fetal
26	chr12:121088368-121088418	PrEC	prostate:	n/a
27	chr12:121088368-121088418	HL-60	blood:	n/a
28	chr12:121088368-121088418	Jurkat	blood:	n/a
29	chr12:121088368-121088418	ovcar-3	ovarian:	n/a
30	chr12:121088368-121088418	Hepatocyte	liver:	n/a
31	chr12:121088368-121088418	RPTEC	kidney:	n/a
32	chr12:121088368-121088418	BJ	skin:	n/a
33	chr12:121088368-121088418	Caco-2	colon:	n/a
34	chr12:121088368-121088418	SKMC	muscle:	n/a
35	chr12:121088368-121088418	PANC-1	pancreas:	n/a
36	chr12:121088368-121088418	GM12891	blood:	n/a
37	chr12:121088368-121088418	CMK	blood:	n/a
38	chr12:121088368-121088418	HRPEpiC	eye:	n/a
39	chr12:121088368-121088418	HIPEpiC	eye:	n/a
40	chr12:121088368-121088418	HAEpiC	amniotic membrane:	n/a
41	chr12:121088368-121088418	H1-hESC	embryonic stem cell:	embryo
42	chr12:121088368-121088418	GM06990	blood:	n/a
43	chr12:121088368-121088418	AG09319	gingival:	n/a
44	chr12:121088368-121088418	A549	lung:	n/a
45	chr12:121088368-121088418	MCF-7	breast:	n/a
46	chr12:121088368-121088418	PFSK-1	brain:	n/a
47	chr12:121088368-121088418	U87	brain:	n/a
48	chr12:121088368-121088418	NH-A	brain:	n/a
49	chr12:121088368-121088418	ProgFib	skin:	n/a
50	chr12:121088368-121088418	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:121074234..121078810-chr12:121086912..121091656,5	K562	blood:
2	chr12:121085923..121088804-chr12:121121977..121126483,5	MCF-7	breast:
3	chr12:121085946..121088715-chr12:121122622..121126229,3	K562	blood:

No data

Variant related genes	Relation type
CABP1	TF binding region
CABP1	CpG island
ENSG00000110917	Chromatin interaction
ENSG00000256008	Chromatin interaction
ENSG00000157782	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12821493	1.00[ASN][1000 genomes]
rs2138250	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2233673	1.00[ASN][1000 genomes]
rs34815312	1.00[ASN][1000 genomes]
rs35151295	1.00[ASN][1000 genomes]
rs35267083	1.00[ASN][1000 genomes]
rs3850521	1.00[ASN][1000 genomes]
rs3889470	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55645249	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55647329	1.00[ASN][1000 genomes]
rs55660947	1.00[ASN][1000 genomes]
rs55874815	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55914930	1.00[ASN][1000 genomes]
rs55941696	1.00[ASN][1000 genomes]
rs55970240	1.00[ASN][1000 genomes]
rs55980956	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56084677	1.00[ASN][1000 genomes]
rs56163702	1.00[ASN][1000 genomes]
rs56175661	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56178989	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56183824	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56206244	1.00[ASN][1000 genomes]
rs56231343	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs56284009	1.00[ASN][1000 genomes]
rs56366632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56391085	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56401401	1.00[ASN][1000 genomes]
rs58235352	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73213106	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214885	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73214888	1.00[ASN][1000 genomes]
rs73222778	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73222780	1.00[ASN][1000 genomes]
rs73222786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73222787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73222794	1.00[ASN][1000 genomes]
rs73222795	1.00[ASN][1000 genomes]
rs73225003	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225012	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225023	1.00[ASN][1000 genomes]
rs73225093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225101	1.00[ASN][1000 genomes]
rs73227016	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73227022	1.00[ASN][1000 genomes]
rs73227026	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227027	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227029	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227033	1.00[ASN][1000 genomes]
rs73227036	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227038	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229118	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229126	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229149	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229151	1.00[ASN][1000 genomes]
rs73229157	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229160	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229162	1.00[ASN][1000 genomes]
rs73230347	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230349	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230352	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121086800-121088400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
2	chr12:121086800-121088600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:121086800-121089400	Active TSS	Psoas Muscle	Psoas
4	chr12:121087200-121088400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:121087200-121089000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:121087200-121089000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
7	chr12:121087200-121091000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:121087400-121089800	Active TSS	Left Ventricle	heart
9	chr12:121087600-121088600	Active TSS	Brain Cingulate Gyrus	brain
10	chr12:121087600-121089000	Active TSS	Rectal Smooth Muscle	rectum
11	chr12:121087600-121089400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:121087600-121090000	Active TSS	Brain Angular Gyrus	brain
13	chr12:121087600-121090200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:121087600-121096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:121087800-121088400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
16	chr12:121087800-121088400	Active TSS	Right Atrium	heart
17	chr12:121087800-121088400	Bivalent Enhancer	NHDF-Ad	bronchial
18	chr12:121087800-121089200	Weak transcription	A549	lung
19	chr12:121087800-121089400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:121087800-121089400	Weak transcription	Esophagus	oesophagus
21	chr12:121087800-121089600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:121087800-121093000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:121088000-121088400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:121088000-121088400	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr12:121088000-121088400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr12:121088000-121088400	Enhancers	Placenta	Placenta
27	chr12:121088000-121088600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr12:121088000-121088600	Active TSS	Right Ventricle	heart
29	chr12:121088000-121088800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
30	chr12:121088000-121089000	Active TSS	Colon Smooth Muscle	Colon
31	chr12:121088000-121089200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:121088000-121089200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr12:121088000-121089800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr12:121088200-121088400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:121088200-121088400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:121088200-121088400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
37	chr12:121088200-121088400	Enhancers	GM12878-XiMat	blood
38	chr12:121088200-121088600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr12:121088200-121088600	Enhancers	Brain Hippocampus Middle	brain
40	chr12:121088200-121088600	Active TSS	Colonic Mucosa	Colon
41	chr12:121088200-121088600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
42	chr12:121088200-121088600	Weak transcription	Spleen	Spleen
43	chr12:121088200-121088800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:121088200-121089200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:121088200-121089400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:121088200-121089400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:121088200-121089400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:121088200-121090600	Weak transcription	Brain Anterior Caudate	brain
49	chr12:121088200-121092000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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