Variant report

Variant	rs34184692
Chromosome Location	chr22:31603276-31603277
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr22:31603126-31603571	MCF-7	breast:	n/a	n/a
2	MAX	chr22:31603221-31603810	MCF-7	breast:	n/a	n/a
3	NR3C1	chr22:31603231-31603583	ECC-1	luminal epithelium:	n/a	chr22:31603402-31603418
4	MAX	chr22:31603150-31603801	MCF-7	breast:	n/a	n/a
5	CEBPB	chr22:31603113-31603668	MCF-7	breast:	n/a	n/a
6	CEBPB	chr22:31603259-31603609	ECC-1	luminal epithelium:	n/a	n/a
7	TEAD4	chr22:31603195-31603615	MCF-7	breast:	n/a	n/a
8	POLR2A	chr22:31603169-31603686	H1-neurons	neurons:	n/a	n/a
9	GATA3	chr22:31603099-31603539	T-47D	breast:	n/a	n/a
10	GATA3	chr22:31603067-31603637	MCF-7	breast:	n/a	n/a
11	NR2F2	chr22:31603119-31603838	MCF-7	breast:	n/a	n/a
12	CEBPB	chr22:31603086-31603631	MCF-7	breast:	n/a	n/a
13	EP300	chr22:31603085-31603550	MCF-7	breast:	n/a	n/a
14	GATA3	chr22:31603061-31604027	MCF-7	breast:	n/a	n/a
15	SIN3AK20	chr22:31602960-31603902	MCF-7	breast:	n/a	n/a
16	TEAD4	chr22:31603112-31603642	ECC-1	luminal epithelium:	n/a	n/a
17	FOXA1	chr22:31603187-31603549	T-47D	breast:	n/a	n/a
18	FOXM1	chr22:31603154-31603658	MCF-7	breast:	n/a	n/a
19	FOXA1	chr22:31603192-31603534	T-47D	breast:	n/a	n/a
20	POLR2A	chr22:31603151-31603797	H1-neurons	neurons:	n/a	n/a
21	GATA3	chr22:31603011-31603820	MCF-7	breast:	n/a	n/a
22	NFIC	chr22:31603055-31603884	ECC-1	luminal epithelium:	n/a	chr22:31603535-31603552
23	NR2F2	chr22:31603093-31603797	MCF-7	breast:	n/a	n/a
24	HDAC2	chr22:31603188-31603641	MCF-7	breast:	n/a	n/a
25	TCF7L2	chr22:31603222-31603599	MCF-7	breast:	n/a	n/a
26	ZNF217	chr22:31603134-31603761	MCF-7	breast:	n/a	n/a
27	REST	chr22:31603266-31603639	MCF-7	breast:	n/a	n/a
28	POLR2A	chr22:31603195-31603710	K562	blood:	n/a	n/a
29	TCF12	chr22:31603131-31603747	ECC-1	luminal epithelium:	n/a	chr22:31603528-31603538
30	SIN3AK20	chr22:31603023-31603739	MCF-7	breast:	n/a	n/a
31	REST	chr22:31603134-31603724	H1-neurons	neurons:	n/a	n/a
32	EP300	chr22:31603146-31603589	T-47D	breast:	n/a	n/a
33	NFIC	chr22:31603077-31603834	ECC-1	luminal epithelium:	n/a	chr22:31603535-31603552
34	TEAD4	chr22:31603135-31603737	ECC-1	luminal epithelium:	n/a	n/a
35	EP300	chr22:31603021-31603830	ECC-1	luminal epithelium:	n/a	chr22:31603706-31603720
36	TCF12	chr22:31603081-31603706	ECC-1	luminal epithelium:	n/a	chr22:31603528-31603538
37	EP300	chr22:31603156-31603522	T-47D	breast:	n/a	n/a
38	GATA3	chr22:31603126-31603570	T-47D	breast:	n/a	n/a
39	HDAC2	chr22:31603110-31603669	MCF-7	breast:	n/a	n/a
40	MAX	chr22:31603136-31603804	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31602004..31608593-chr22:31739507..31744494,7	MCF-7	breast:
2	chr22:31602053..31603755-chr22:31608562..31611221,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNF185-AS1	TF binding region
LIMK2	TF binding region
ENSG00000100105	Chromatin interaction
ENSG00000213888	Chromatin interaction

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

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

rs_ID	r²[population]
rs1005624	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1034587	0.87[ASN][1000 genomes]
rs10428007	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11089491	0.93[ASN][1000 genomes]
rs12106582	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12627805	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12627941	0.90[ASN][1000 genomes]
rs12628752	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17220369	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2073858	0.94[ASN][1000 genomes]
rs2239905	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2239906	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2267169	0.89[ASN][1000 genomes]
rs2267170	0.89[ASN][1000 genomes]
rs2267171	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2283878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2283880	0.91[ASN][1000 genomes]
rs2413041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28709894	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4561750	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4615	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4645077	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4820040	0.91[EUR][1000 genomes]
rs4820949	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4820952	0.92[ASN][1000 genomes]
rs4820964	0.84[ASN][1000 genomes]
rs4820965	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55737363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55900008	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5749231	0.94[ASN][1000 genomes]
rs5749232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5749244	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749254	0.81[ASN][1000 genomes]
rs5753488	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5753499	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753518	0.97[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs5753528	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753531	0.89[ASN][1000 genomes]
rs5753550	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753551	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753560	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753573	0.87[EUR][1000 genomes]
rs5753577	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5997940	0.87[ASN][1000 genomes]
rs61006749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62236175	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62237396	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62237404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62237436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68136222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72617294	0.95[ASN][1000 genomes]
rs72617295	0.91[ASN][1000 genomes]
rs73158522	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs737809	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs886074	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[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	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31558800-31606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr22:31570000-31606400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr22:31575800-31607600	Weak transcription	Hela-S3	cervix
4	chr22:31576000-31607800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:31576000-31607800	Weak transcription	A549	lung
6	chr22:31579200-31607400	Weak transcription	K562	blood
7	chr22:31580800-31607600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr22:31581400-31607800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:31582800-31603600	Strong transcription	Liver	Liver
10	chr22:31584000-31608200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:31586000-31603800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr22:31588200-31606600	Strong transcription	Fetal Stomach	stomach
13	chr22:31588400-31603400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr22:31588600-31606400	Strong transcription	Fetal Intestine Small	intestine
15	chr22:31589000-31607200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr22:31589400-31603600	Strong transcription	Adipose Nuclei	Adipose
17	chr22:31589400-31605800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr22:31592000-31607800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr22:31592800-31606000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr22:31593000-31607400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr22:31593200-31607600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:31595000-31605200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:31595000-31605800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr22:31595200-31603400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr22:31595200-31603800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr22:31595200-31604400	Strong transcription	Fetal Intestine Large	intestine
27	chr22:31595800-31606000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr22:31596600-31606400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr22:31596600-31607600	Weak transcription	Fetal Kidney	kidney
30	chr22:31597000-31603600	Strong transcription	Brain Cingulate Gyrus	brain
31	chr22:31598400-31606600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr22:31598400-31606800	Weak transcription	GM12878-XiMat	blood
33	chr22:31598400-31607600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:31598400-31607600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr22:31598400-31607600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr22:31598600-31605800	Weak transcription	HUVEC	blood vessel
37	chr22:31598600-31606600	Weak transcription	Primary B cells from cord blood	blood
38	chr22:31598600-31607800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr22:31598800-31607600	Weak transcription	Pancreas	Pancrea
40	chr22:31599200-31603400	Strong transcription	Fetal Muscle Leg	muscle
41	chr22:31599200-31606200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr22:31599400-31606400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr22:31599400-31606600	Weak transcription	Colonic Mucosa	Colon
44	chr22:31599600-31606200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr22:31599600-31607400	Weak transcription	Brain Angular Gyrus	brain
46	chr22:31599600-31607400	Weak transcription	Brain Hippocampus Middle	brain
47	chr22:31599600-31607600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:31599600-31607600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr22:31599600-31607600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr22:31599600-31607600	Weak transcription	NH-A	brain

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