Variant report

Variant	rs7289803
Chromosome Location	chr22:30195949-30195950
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30195869-30196031	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30191545..30194644-chr22:30195667..30197802,3	K562	blood:
2	chr22:30161539..30163655-chr22:30194119..30196895,2	K562	blood:
3	chr22:30192738..30197507-chr22:30207918..30212414,7	MCF-7	breast:
4	chr22:30160556..30163537-chr22:30195523..30197184,3	MCF-7	breast:
5	chr22:30193309..30197041-chr22:30202385..30207780,5	MCF-7	breast:

No data

Variant related genes	Relation type
ASCC2	TF binding region
ENSG00000184076	Chromatin interaction
ENSG00000100319	Chromatin interaction
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11549795	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1544429	0.82[EUR][1000 genomes]
rs1544431	0.80[EUR][1000 genomes]
rs1544433	0.80[EUR][1000 genomes]
rs16988025	0.87[EUR][1000 genomes]
rs16988120	0.80[EUR][1000 genomes]
rs16988143	0.80[EUR][1000 genomes]
rs16988149	0.80[EUR][1000 genomes]
rs2105871	0.87[EUR][1000 genomes]
rs2349228	0.81[EUR][1000 genomes]
rs249394	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs249403	1.00[EUR][1000 genomes]
rs28265	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36571	1.00[EUR][1000 genomes]
rs36575	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36577	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36579	0.80[EUR][1000 genomes]
rs36588	0.80[EUR][1000 genomes]
rs36589	0.80[EUR][1000 genomes]
rs36592	0.80[EUR][1000 genomes]
rs36593	0.80[EUR][1000 genomes]
rs36599	0.80[EUR][1000 genomes]
rs36602	0.80[EUR][1000 genomes]
rs36603	0.80[EUR][1000 genomes]
rs4820823	0.81[EUR][1000 genomes]
rs55645000	0.80[EUR][1000 genomes]
rs56332559	1.00[EUR][1000 genomes]
rs57348516	0.80[EUR][1000 genomes]
rs5752974	0.84[EUR][1000 genomes]
rs5752977	0.84[EUR][1000 genomes]
rs5752979	0.82[EUR][1000 genomes]
rs5763560	0.84[EUR][1000 genomes]
rs5763568	0.84[EUR][1000 genomes]
rs5763582	0.82[EUR][1000 genomes]
rs5763595	0.80[EUR][1000 genomes]
rs57779751	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58763525	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5997539	0.84[EUR][1000 genomes]
rs6006276	0.84[EUR][1000 genomes]
rs7284951	0.80[EUR][1000 genomes]
rs7286441	0.80[EUR][1000 genomes]
rs7287233	0.80[EUR][1000 genomes]
rs7292013	0.87[EUR][1000 genomes]
rs73392888	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs737938	0.80[EUR][1000 genomes]
rs73883310	0.87[EUR][1000 genomes]
rs73883312	0.87[EUR][1000 genomes]
rs73883313	0.87[EUR][1000 genomes]
rs73883320	1.00[EUR][1000 genomes]
rs73883344	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30181200-30196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:30181200-30196200	Weak transcription	Fetal Heart	heart
4	chr22:30182200-30217000	Strong transcription	Fetal Intestine Small	intestine
5	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
6	chr22:30182800-30204600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr22:30182800-30204800	Strong transcription	Fetal Brain Female	brain
8	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
9	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
10	chr22:30183000-30221400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr22:30183200-30197000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr22:30183200-30230800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr22:30183400-30204800	Strong transcription	Brain Germinal Matrix	brain
14	chr22:30183400-30224000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr22:30183400-30230800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr22:30183800-30204800	Strong transcription	Ovary	ovary
17	chr22:30183800-30205000	Strong transcription	Fetal Intestine Large	intestine
18	chr22:30183800-30205200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr22:30183800-30224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:30183800-30232200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr22:30184000-30198400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr22:30184000-30204800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr22:30184000-30222200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:30186600-30199800	Weak transcription	Fetal Kidney	kidney
25	chr22:30189400-30196200	Weak transcription	Fetal Brain Male	brain
26	chr22:30189400-30197200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:30189600-30201000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr22:30189600-30201800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:30189800-30197600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:30189800-30201800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr22:30191000-30222200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr22:30191600-30196400	Genic enhancers	Placenta	Placenta
33	chr22:30191600-30198400	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr22:30192000-30196800	Weak transcription	Small Intestine	intestine
35	chr22:30192200-30197000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr22:30192400-30198200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr22:30192600-30198400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr22:30192800-30196200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr22:30192800-30196200	Genic enhancers	Spleen	Spleen
40	chr22:30192800-30196400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr22:30192800-30196600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr22:30193000-30196200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr22:30193000-30196200	Genic enhancers	Duodenum Mucosa	Duodenum
44	chr22:30193200-30196200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr22:30193400-30196200	Genic enhancers	Brain Substantia Nigra	brain
46	chr22:30193400-30217200	Strong transcription	Fetal Thymus	thymus
47	chr22:30194000-30196200	Genic enhancers	Esophagus	oesophagus
48	chr22:30194000-30197800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr22:30194000-30198000	Genic enhancers	Left Ventricle	heart
50	chr22:30194000-30198200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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