Variant report

Variant	rs73245485
Chromosome Location	chr14:34896334-34896335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:34894353..34897341-chr14:34909649..34911382,2	K562	blood:
2	chr14:34892965..34896765-chr14:34898048..34900393,3	K562	blood:
3	chr14:34893969..34896982-chr14:35022317..35025730,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206588	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10129915	1.00[EUR][1000 genomes]
rs10130046	1.00[EUR][1000 genomes]
rs10133741	1.00[EUR][1000 genomes]
rs10143109	1.00[EUR][1000 genomes]
rs17102490	1.00[EUR][1000 genomes]
rs28493719	1.00[EUR][1000 genomes]
rs28680406	1.00[EUR][1000 genomes]
rs59038005	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59347396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7142802	1.00[EUR][1000 genomes]
rs73234328	1.00[EUR][1000 genomes]
rs73242797	1.00[EUR][1000 genomes]
rs73242799	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73242802	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73244424	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73244427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73245453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73245457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73245459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73245465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73245466	1.00[EUR][1000 genomes]
rs73245475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv949738	chr14:34616331-34990688	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv564192	chr14:34725233-34996507	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1054949	chr14:34834260-34992049	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv542025	chr14:34834260-34992049	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1050218	chr14:34851521-34969433	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1048369	chr14:34886956-34974774	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34890800-34905800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:34891200-34902400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr14:34892800-34905400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:34893800-34896800	Enhancers	Pancreas	Pancrea
5	chr14:34894200-34914000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:34894400-34897600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr14:34894600-34897000	Enhancers	Liver	Liver
8	chr14:34894600-34902400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:34894600-34913400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr14:34895200-34896400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:34895200-34906400	Weak transcription	Hela-S3	cervix
12	chr14:34895600-34897000	Enhancers	Duodenum Mucosa	Duodenum
13	chr14:34895600-34897000	Enhancers	Gastric	stomach
14	chr14:34895600-34897000	Enhancers	Stomach Mucosa	stomach
15	chr14:34895800-34896400	Enhancers	Right Ventricle	heart
16	chr14:34895800-34896600	Enhancers	Colonic Mucosa	Colon
17	chr14:34895800-34896600	Enhancers	Spleen	Spleen
18	chr14:34895800-34915400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:34896000-34896400	Weak transcription	Psoas Muscle	Psoas
20	chr14:34896200-34896400	Enhancers	Left Ventricle	heart

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