Variant report

Variant	rs8041312
Chromosome Location	chr15:43428902-43428903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43426566..43429300-chr15:43440939..43443897,2	K562	blood:
2	chr15:43427762..43430100-chr15:43436289..43438469,2	MCF-7	breast:
3	chr15:43412581..43417001-chr15:43422670..43429913,10	K562	blood:
4	chr15:43425686..43428032-chr15:43428603..43431679,3	K562	blood:

Variant related genes	Relation type
ENSG00000137842	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10048057	1.00[EUR][1000 genomes]
rs10083725	1.00[EUR][1000 genomes]
rs10152237	1.00[EUR][1000 genomes]
rs10220812	1.00[EUR][1000 genomes]
rs1042168	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10438267	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1078243	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504654	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504655	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324094	1.00[EUR][1000 genomes]
rs12324436	1.00[EUR][1000 genomes]
rs12324573	1.00[EUR][1000 genomes]
rs1474199	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520519	1.00[EUR][1000 genomes]
rs16957409	1.00[EUR][1000 genomes]
rs16957462	1.00[EUR][1000 genomes]
rs16957499	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957502	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957507	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863601	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2004809	1.00[EUR][1000 genomes]
rs2271964	1.00[EUR][1000 genomes]
rs2271965	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444219	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28539201	1.00[EUR][1000 genomes]
rs3177296	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34222269	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4419035	1.00[EUR][1000 genomes]
rs505276	1.00[EUR][1000 genomes]
rs58059509	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59401274	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59900401	1.00[EUR][1000 genomes]
rs60435696	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60481556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61268760	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61343376	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61711558	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7162620	1.00[EUR][1000 genomes]
rs7162971	1.00[EUR][1000 genomes]
rs7171797	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176183	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182685	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030850	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8035881	1.00[EUR][1000 genomes]
rs8039342	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040960	1.00[EUR][1000 genomes]
rs9806236	1.00[EUR][1000 genomes]
rs9806629	1.00[EUR][1000 genomes]
rs9972314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972367	1.00[EUR][1000 genomes]
rs999025	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	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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
3	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43426600-43429600	Weak transcription	Gastric	stomach
2	chr15:43426600-43442200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:43426800-43429000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr15:43426800-43429000	Weak transcription	Aorta	Aorta
5	chr15:43426800-43429000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr15:43426800-43429200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr15:43426800-43429400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:43426800-43429400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:43426800-43429400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:43426800-43429400	Weak transcription	Spleen	Spleen
11	chr15:43426800-43429600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:43426800-43429600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:43426800-43429600	Weak transcription	Right Ventricle	heart
14	chr15:43426800-43429800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:43426800-43429800	Weak transcription	Esophagus	oesophagus
16	chr15:43426800-43429800	Weak transcription	HSMMtube	muscle
17	chr15:43426800-43430000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:43426800-43431400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr15:43426800-43431600	Weak transcription	Brain Angular Gyrus	brain
20	chr15:43426800-43433000	Weak transcription	A549	lung
21	chr15:43426800-43433000	Weak transcription	HSMM	muscle
22	chr15:43426800-43433400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:43426800-43436400	Weak transcription	Primary T cells from cord blood	blood
24	chr15:43426800-43455800	Weak transcription	Fetal Lung	lung
25	chr15:43426800-43465400	Weak transcription	Psoas Muscle	Psoas
26	chr15:43427000-43429000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:43427000-43429000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr15:43427000-43429000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr15:43427000-43429000	Weak transcription	Thymus	Thymus
30	chr15:43427000-43429000	Weak transcription	Osteobl	bone
31	chr15:43427000-43429200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:43427000-43429600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr15:43427000-43429800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:43427000-43429800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr15:43427000-43429800	Weak transcription	Brain Substantia Nigra	brain
36	chr15:43427000-43429800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr15:43427000-43431200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:43427000-43440600	Weak transcription	Fetal Heart	heart
39	chr15:43427000-43442200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr15:43427000-43442200	Weak transcription	NH-A	brain
41	chr15:43427200-43429200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:43427200-43429600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:43427200-43429800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr15:43427200-43429800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr15:43427200-43429800	Weak transcription	HMEC	breast
46	chr15:43427200-43431400	Weak transcription	NHLF	lung
47	chr15:43427200-43432400	Weak transcription	HUVEC	blood vessel
48	chr15:43427200-43432400	Weak transcription	NHEK	skin
49	chr15:43427200-43433200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr15:43427200-43436200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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