Variant report

Variant	rs35205057
Chromosome Location	chr12:104703499-104703500
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:104702278-104704036	HUVEC	blood vessel:	n/a	n/a
2	BCL3	chr12:104702922-104703917	A549	lung:	n/a	n/a
3	FOSL2	chr12:104702874-104703983	A549	lung:	n/a	n/a
4	SIN3AK20	chr12:104702908-104703851	A549	lung:	n/a	n/a
5	JUND	chr12:104703452-104703927	A549	lung:	n/a	n/a
6	POLR2A	chr12:104703483-104703865	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:104702806-104703953	Hela-S3	cervix:	n/a	n/a
8	SP1	chr12:104702767-104703970	A549	lung:	n/a	chr12:104703255-104703269
9	POLR2A	chr12:104702846-104704236	Hela-S3	cervix:	n/a	n/a
10	SIN3AK20	chr12:104703032-104703910	A549	lung:	n/a	n/a
11	POLR2A	chr12:104702686-104703997	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr12:104684682-104705657	A549	lung:	n/a	n/a
13	POLR2A	chr12:104703136-104703793	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr12:104703387-104703916	Hela-S3	cervix:	n/a	n/a
15	BCL3	chr12:104702868-104703922	A549	lung:	n/a	n/a
16	POLR2A	chr12:104703411-104703861	K562	blood:	n/a	n/a
17	POLR2A	chr12:104703481-104703757	HCT-116	colon:	n/a	n/a
18	ATF3	chr12:104703239-104703894	A549	lung:	n/a	n/a
19	POLR2A	chr12:104703015-104703814	K562	blood:	n/a	n/a
20	EP300	chr12:104702793-104703966	A549	lung:	n/a	n/a
21	POLR2A	chr12:104703467-104703886	A549	lung:	n/a	n/a
22	TCF12	chr12:104702757-104704026	A549	lung:	n/a	n/a
23	POLR2A	chr12:104702886-104703913	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr12:104702875-104703993	HepG2	liver:	n/a	n/a
25	ELF1	chr12:104702873-104703890	A549	lung:	n/a	chr12:104703425-104703436
26	POLR2A	chr12:104702299-104704281	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr12:104703483-104703872	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:104696590..104698591-chr12:104702374..104705113,2	MCF-7	breast:
2	chr12:104681662..104683943-chr12:104703194..104704714,2	MCF-7	breast:
3	chr12:104702212..104703801-chr12:105351869..105353641,2	MCF-7	breast:

No data

Variant related genes	Relation type
TXNRD1	TF binding region
ENSG00000136052	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000255150	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs34368560	1.00[AFR][1000 genomes]
rs34472170	1.00[AFR][1000 genomes]
rs34748514	1.00[AFR][1000 genomes]
rs35276618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35475487	1.00[AFR][1000 genomes]
rs36057993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59922632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60228168	1.00[AFR][1000 genomes]
rs73396438	0.93[AFR][1000 genomes]
rs73396440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396443	1.00[AFR][1000 genomes]
rs73396445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396451	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398413	1.00[AFR][1000 genomes]
rs73398415	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription 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 target site	34 gene(s)	inside rSNPs	diseases
2	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1048075	chr12:104694799-104751460	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv541588	chr12:104694799-104751460	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104683800-104723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:104697200-104706200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:104698000-104704000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:104698000-104705000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:104698000-104707400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:104698000-104707600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:104698000-104707800	Weak transcription	Esophagus	oesophagus
8	chr12:104698000-104711400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:104698000-104716200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:104698200-104703600	Weak transcription	Pancreas	Pancrea
11	chr12:104698200-104704800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:104698200-104705000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:104698200-104705000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:104698200-104705000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:104698200-104705000	Weak transcription	Fetal Intestine Large	intestine
16	chr12:104698200-104706000	Weak transcription	Fetal Brain Male	brain
17	chr12:104698200-104706200	Weak transcription	Brain Germinal Matrix	brain
18	chr12:104698200-104708400	Genic enhancers	HUVEC	blood vessel
19	chr12:104698200-104708800	Weak transcription	Colonic Mucosa	Colon
20	chr12:104698400-104704800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:104698400-104704800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:104698400-104705000	Weak transcription	Liver	Liver
23	chr12:104698400-104705000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:104698400-104705000	Weak transcription	Placenta	Placenta
25	chr12:104698400-104705200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:104698400-104705200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:104698400-104705200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:104698400-104705200	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:104698400-104705800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:104698400-104705800	Weak transcription	Fetal Brain Female	brain
31	chr12:104698400-104705800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:104698400-104706200	Weak transcription	Fetal Lung	lung
33	chr12:104698400-104707200	Weak transcription	Brain Substantia Nigra	brain
34	chr12:104698400-104707400	Weak transcription	Brain Angular Gyrus	brain
35	chr12:104698400-104707800	Weak transcription	Spleen	Spleen
36	chr12:104698400-104716600	Strong transcription	HSMM	muscle
37	chr12:104698400-104718400	Weak transcription	Stomach Mucosa	stomach
38	chr12:104698400-104720600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:104698400-104747600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:104698600-104703600	Weak transcription	Fetal Stomach	stomach
41	chr12:104698600-104704600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:104698600-104705000	Weak transcription	Thymus	Thymus
43	chr12:104698600-104705000	Weak transcription	HSMMtube	muscle
44	chr12:104698600-104706000	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:104698600-104716200	Strong transcription	NHEK	skin
46	chr12:104698800-104703600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:104699200-104704400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:104699200-104705000	Weak transcription	Right Atrium	heart
49	chr12:104699400-104704400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:104699400-104704600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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