Variant report

Variant	rs748991
Chromosome Location	chr15:100019382-100019383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:100018316..100021030-chr15:100104572..100106677,2	MCF-7	breast:
2	chr15:99976307..99978594-chr15:100018036..100019822,2	MCF-7	breast:
3	chr15:99981781..99983657-chr15:100018041..100019744,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000068305	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1020255	0.87[AFR][1000 genomes]
rs1442644	0.81[EUR][1000 genomes]
rs1561860	0.93[EUR][1000 genomes]
rs1561861	0.93[EUR][1000 genomes]
rs2862090	0.84[EUR][1000 genomes]
rs2862091	0.91[EUR][1000 genomes]
rs2862092	0.91[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs2862093	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2862094	0.93[EUR][1000 genomes]
rs2902137	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4965240	0.81[EUR][1000 genomes]
rs4965245	0.90[EUR][1000 genomes]
rs4965251	0.84[YRI][hapmap];0.87[AFR][1000 genomes]
rs4965508	0.86[EUR][1000 genomes]
rs56159751	0.87[AFR][1000 genomes]
rs7171291	0.87[EUR][1000 genomes]
rs7171672	0.90[EUR][1000 genomes]
rs7175649	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[EUR][1000 genomes]
rs7184030	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs748992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs755439	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs755440	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8026271	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs874009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs920655	0.82[JPT][hapmap];0.85[MEX][hapmap]
rs920656	0.95[CEU][hapmap];0.84[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	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
6	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
9	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv1050527	chr15:99983054-100035436	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv904558	chr15:100019382-100171684	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100008200-100020600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:100013000-100019400	Enhancers	Fetal Thymus	thymus
3	chr15:100014800-100020200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr15:100014800-100026800	Weak transcription	Aorta	Aorta
5	chr15:100016200-100019600	Enhancers	Primary hematopoietic stem cells	blood
6	chr15:100017200-100019400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr15:100018000-100026000	Weak transcription	A549	lung
8	chr15:100018200-100019400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:100018200-100020400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:100018200-100026000	Weak transcription	Stomach Mucosa	stomach
11	chr15:100018400-100020400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr15:100018400-100022400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr15:100018400-100024600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:100018400-100024600	Weak transcription	Lung	lung
15	chr15:100018400-100025800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr15:100018400-100026800	Weak transcription	Gastric	stomach
17	chr15:100018600-100021600	Weak transcription	HSMMtube	muscle
18	chr15:100018600-100024600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr15:100018600-100024600	Weak transcription	Spleen	Spleen
20	chr15:100018600-100025600	Weak transcription	Right Ventricle	heart
21	chr15:100018800-100021600	Weak transcription	Fetal Lung	lung
22	chr15:100018800-100025400	Weak transcription	Left Ventricle	heart
23	chr15:100019000-100020200	Weak transcription	Fetal Muscle Leg	muscle
24	chr15:100019000-100020600	Weak transcription	Thymus	Thymus
25	chr15:100019000-100024400	Weak transcription	Fetal Heart	heart
26	chr15:100019000-100025400	Weak transcription	Dnd41	blood
27	chr15:100019200-100022200	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links