Variant report

Variant	rs12916448
Chromosome Location	chr15:73036842-73036843
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	chr15:73036160..73039142-chr15:73074583..73076475,2	K562	blood:
2	chr15:73035482..73038391-chr15:73038999..73041127,2	K562	blood:

Variant related genes	Relation type
ENSG00000159322	Chromatin interaction
ENSG00000260898	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11072383	0.80[ASN][1000 genomes]
rs11072389	0.87[ASN][1000 genomes]
rs12437473	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12439200	0.87[ASN][1000 genomes]
rs12439473	0.87[ASN][1000 genomes]
rs12591690	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12591728	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12594320	0.84[ASN][1000 genomes]
rs12898814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12902361	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12916236	0.88[ASN][1000 genomes]
rs1346165	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16957257	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16957297	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2162268	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2304598	0.88[ASN][1000 genomes]
rs28397892	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28562097	0.85[ASN][1000 genomes]
rs28648660	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28737436	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28801790	0.88[ASN][1000 genomes]
rs28827493	0.87[ASN][1000 genomes]
rs28866048	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33923961	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34660767	0.88[ASN][1000 genomes]
rs34940604	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4777541	0.87[ASN][1000 genomes]
rs6495017	0.99[ASN][1000 genomes]
rs7162166	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7170394	0.80[ASN][1000 genomes]
rs7172397	0.80[ASN][1000 genomes]
rs7175918	0.80[ASN][1000 genomes]
rs7182854	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8023358	0.81[ASN][1000 genomes]
rs8024644	0.81[ASN][1000 genomes]
rs8026286	0.91[AMR][1000 genomes]
rs8031691	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8036269	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72999000-73044000	Weak transcription	Small Intestine	intestine
2	chr15:73002000-73054600	Weak transcription	Fetal Brain Male	brain
3	chr15:73003400-73044000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:73021000-73044200	Weak transcription	HUVEC	blood vessel
5	chr15:73021400-73044200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:73024400-73046800	Weak transcription	Fetal Kidney	kidney
7	chr15:73024800-73044000	Weak transcription	HMEC	breast
8	chr15:73029600-73043400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:73030000-73044600	Weak transcription	Brain Substantia Nigra	brain
10	chr15:73030200-73042200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:73030200-73043200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:73030200-73043800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:73030400-73043400	Weak transcription	Esophagus	oesophagus
14	chr15:73030400-73043600	Weak transcription	NHLF	lung
15	chr15:73030400-73044000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr15:73030400-73044000	Weak transcription	HepG2	liver
17	chr15:73030400-73046000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:73030600-73058400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:73031000-73042200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr15:73031000-73043200	Weak transcription	Colonic Mucosa	Colon
21	chr15:73031000-73043400	Weak transcription	Brain Anterior Caudate	brain
22	chr15:73031000-73043400	Weak transcription	Gastric	stomach
23	chr15:73031000-73043400	Weak transcription	Pancreas	Pancrea
24	chr15:73031000-73043400	Weak transcription	Spleen	Spleen
25	chr15:73031000-73043400	Weak transcription	NHEK	skin
26	chr15:73031000-73044000	Weak transcription	Colon Smooth Muscle	Colon
27	chr15:73031000-73044800	Weak transcription	K562	blood
28	chr15:73031200-73043400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr15:73031200-73044000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:73031200-73044000	Weak transcription	Fetal Brain Female	brain
31	chr15:73031200-73044200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:73031400-73042200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr15:73031400-73042200	Weak transcription	Fetal Thymus	thymus
34	chr15:73031400-73043800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:73031400-73044600	Weak transcription	Ovary	ovary
36	chr15:73031600-73044000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:73031600-73044400	Weak transcription	Hela-S3	cervix
38	chr15:73031600-73045000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr15:73031800-73043400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:73031800-73043400	Weak transcription	Fetal Intestine Small	intestine
41	chr15:73031800-73043800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr15:73031800-73043800	Weak transcription	Right Ventricle	heart
43	chr15:73031800-73044200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr15:73032200-73042200	Weak transcription	Fetal Muscle Leg	muscle
45	chr15:73032200-73043400	Weak transcription	Lung	lung
46	chr15:73032200-73043800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr15:73032200-73044000	Weak transcription	Aorta	Aorta
48	chr15:73032200-73044000	Weak transcription	HSMMtube	muscle
49	chr15:73032400-73042000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr15:73032400-73042200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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