Variant report

Variant	rs1992485
Chromosome Location	chr15:100025360-100025361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:99995946..99998218-chr15:100024533..100026194,2	K562	blood:
2	chr15:100024061..100027015-chr15:100105805..100107959,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000068305	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12592753	0.96[EUR][1000 genomes]
rs12594174	0.96[EUR][1000 genomes]
rs12595336	0.96[EUR][1000 genomes]
rs12901856	0.96[EUR][1000 genomes]
rs12902817	0.88[EUR][1000 genomes]
rs12907047	0.96[EUR][1000 genomes]
rs12907380	0.96[EUR][1000 genomes]
rs12911709	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs12915746	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28538977	0.96[EUR][1000 genomes]
rs28615486	0.96[EUR][1000 genomes]
rs2862089	0.90[EUR][1000 genomes]
rs34833026	0.89[EUR][1000 genomes]
rs4965248	0.80[CEU][hapmap];0.89[EUR][1000 genomes]
rs4965249	0.89[EUR][1000 genomes]
rs4965510	0.96[EUR][1000 genomes]
rs4965511	0.89[CEU][hapmap];0.96[EUR][1000 genomes]
rs4965512	0.80[CEU][hapmap];0.89[EUR][1000 genomes]
rs58271980	0.83[EUR][1000 genomes]
rs6598253	0.89[CEU][hapmap];0.96[EUR][1000 genomes]
rs66994542	0.89[EUR][1000 genomes]
rs71399871	0.90[EUR][1000 genomes]
rs7165608	0.80[CEU][hapmap];0.89[EUR][1000 genomes]
rs7165832	0.80[CEU][hapmap];0.89[EUR][1000 genomes]
rs7182803	0.96[EUR][1000 genomes]
rs7182877	0.80[CEU][hapmap];0.89[EUR][1000 genomes]
rs7182883	0.80[CEU][hapmap];0.89[EUR][1000 genomes]
rs8024609	0.94[EUR][1000 genomes]
rs8027441	0.80[CEU][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100014800-100026800	Weak transcription	Aorta	Aorta
2	chr15:100018000-100026000	Weak transcription	A549	lung
3	chr15:100018200-100026000	Weak transcription	Stomach Mucosa	stomach
4	chr15:100018400-100025800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr15:100018400-100026800	Weak transcription	Gastric	stomach
6	chr15:100018600-100025600	Weak transcription	Right Ventricle	heart
7	chr15:100018800-100025400	Weak transcription	Left Ventricle	heart
8	chr15:100019000-100025400	Weak transcription	Dnd41	blood
9	chr15:100019600-100025400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:100020200-100025400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr15:100020400-100025400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr15:100022000-100025600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:100022200-100025400	Weak transcription	Fetal Lung	lung
14	chr15:100022200-100026200	Weak transcription	HSMMtube	muscle
15	chr15:100022400-100025400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:100024600-100026200	Enhancers	Fetal Stomach	stomach
17	chr15:100024600-100026400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:100024800-100025600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr15:100024800-100025800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:100024800-100026000	Weak transcription	Small Intestine	intestine
21	chr15:100025000-100027200	Enhancers	Fetal Heart	heart
22	chr15:100025200-100025800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr15:100025200-100025800	Enhancers	Thymus	Thymus
24	chr15:100025200-100026000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr15:100025200-100026200	Enhancers	Primary B cells from peripheral blood	blood
26	chr15:100025200-100026200	Enhancers	Fetal Thymus	thymus
27	chr15:100025200-100026600	Enhancers	Spleen	Spleen
28	chr15:100025200-100027800	Enhancers	Lung	lung

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