Variant report

Variant	rs174767
Chromosome Location	chr22:29740728-29740729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr22:29740017-29740842	SK-N-SH	brain:	n/a	chr22:29740236-29740244
2	TCF12	chr22:29740029-29740736	ECC-1	luminal epithelium:	n/a	chr22:29740236-29740244
3	NFIC	chr22:29739969-29740730	SK-N-SH	brain:	n/a	n/a
4	NFIC	chr22:29739960-29740796	ECC-1	luminal epithelium:	n/a	n/a
5	NFIC	chr22:29739966-29740735	ECC-1	luminal epithelium:	n/a	n/a
6	PBX3	chr22:29740024-29740734	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29702180..29703691-chr22:29738265..29740905,2	MCF-7	breast:
2	chr22:29739232..29740930-chr22:29780922..29783404,2	MCF-7	breast:
3	chr22:29736497..29738602-chr22:29740193..29742101,2	MCF-7	breast:
4	chr22:29738779..29741832-chr22:29745375..29748854,3	MCF-7	breast:
5	chr22:29740483..29742750-chr22:29748427..29749930,2	MCF-7	breast:
6	chr22:29734080..29735582-chr22:29739639..29742081,2	MCF-7	breast:

No data

Variant related genes	Relation type
AP1B1	TF binding region
ENSG00000185340	Chromatin interaction
ENSG00000100280	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11090564	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs131180	0.81[ASN][1000 genomes]
rs131189	0.81[ASN][1000 genomes]
rs140062	0.81[ASN][1000 genomes]
rs140063	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs140066	0.83[ASN][1000 genomes]
rs174759	0.83[ASN][1000 genomes]
rs174761	0.82[ASN][1000 genomes]
rs174764	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs174765	0.80[ASN][1000 genomes]
rs174766	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs174769	0.80[ASN][1000 genomes]
rs2071578	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2072051	0.80[ASN][1000 genomes]
rs2283849	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2301585	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2519486	0.80[AMR][1000 genomes]
rs2857462	0.82[ASN][1000 genomes]
rs28755	0.82[ASN][1000 genomes]
rs3788411	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5763138	0.82[ASN][1000 genomes]
rs5763139	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs98069	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29721400-29746800	Strong transcription	Fetal Intestine Small	intestine
2	chr22:29721800-29756800	Strong transcription	Primary T cells from cord blood	blood
3	chr22:29722000-29747000	Strong transcription	Duodenum Mucosa	Duodenum
4	chr22:29722000-29759200	Strong transcription	Dnd41	blood
5	chr22:29722000-29759800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr22:29722200-29741000	Strong transcription	Duodenum Smooth Muscle	Duodenum
7	chr22:29722200-29755800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:29722200-29756400	Strong transcription	Thymus	Thymus
9	chr22:29722200-29756600	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr22:29722200-29759800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr22:29722400-29756800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr22:29722400-29758400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr22:29722600-29751200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr22:29722600-29753200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr22:29722600-29755400	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr22:29722600-29756000	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr22:29722600-29757200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr22:29722600-29758000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr22:29722600-29758800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr22:29723000-29758800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr22:29723000-29765000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr22:29725400-29756200	Strong transcription	Primary B cells from cord blood	blood
23	chr22:29727400-29741000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr22:29727400-29756200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:29727600-29746600	Strong transcription	Fetal Intestine Large	intestine
26	chr22:29728000-29756200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:29728400-29755400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr22:29731600-29753200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr22:29731800-29755400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr22:29732800-29743200	Weak transcription	Fetal Kidney	kidney
31	chr22:29734000-29744600	Weak transcription	Stomach Mucosa	stomach
32	chr22:29735000-29742200	Weak transcription	Psoas Muscle	Psoas
33	chr22:29736000-29741000	Strong transcription	HUVEC	blood vessel
34	chr22:29736000-29743000	Genic enhancers	Placenta	Placenta
35	chr22:29737400-29742600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr22:29737600-29741000	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr22:29737600-29743600	Weak transcription	HSMM	muscle
38	chr22:29737800-29747000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr22:29738000-29740800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr22:29738000-29741200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
41	chr22:29738000-29743600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr22:29738200-29741000	Genic enhancers	Brain Cingulate Gyrus	brain
43	chr22:29738200-29741200	Enhancers	Fetal Heart	heart
44	chr22:29738200-29747600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:29738200-29755800	Strong transcription	Spleen	Spleen
46	chr22:29738400-29741000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr22:29738400-29742600	Weak transcription	Aorta	Aorta
48	chr22:29738600-29741000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr22:29738600-29742600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr22:29738600-29742800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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