Variant report

Variant	rs2447210
Chromosome Location	chr15:43936103-43936104
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	15:43782117-43785993..15:43931042-43936532	GM12878	blood:

Variant related genes	Relation type
ENSG00000067369	Chromatin interaction

Extended variants
information (count: 139 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11856184	0.96[ASN][1000 genomes]
rs11857661	0.98[ASN][1000 genomes]
rs12443102	0.98[ASN][1000 genomes]
rs2259174	0.87[ASN][1000 genomes]
rs2439	0.87[ASN][1000 genomes]
rs2447193	0.98[ASN][1000 genomes]
rs2447195	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2447196	0.88[ASN][1000 genomes]
rs2447197	0.88[ASN][1000 genomes]
rs2447208	0.98[ASN][1000 genomes]
rs2447211	0.98[ASN][1000 genomes]
rs2447212	0.98[ASN][1000 genomes]
rs2447213	0.97[ASN][1000 genomes]
rs2447215	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2447216	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2470120	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470121	0.98[ASN][1000 genomes]
rs2470124	0.82[ASN][1000 genomes]
rs2470135	0.85[EUR][1000 genomes]
rs2614819	0.89[ASN][1000 genomes]
rs2614822	0.89[ASN][1000 genomes]
rs28366727	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28606452	0.95[ASN][1000 genomes]
rs28704825	0.83[ASN][1000 genomes]
rs28758851	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2915776	0.96[ASN][1000 genomes]
rs2915779	0.94[ASN][1000 genomes]
rs2915792	0.91[ASN][1000 genomes]
rs2920780	0.88[ASN][1000 genomes]
rs2920781	0.91[ASN][1000 genomes]
rs2920782	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2927070	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2927071	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2927072	0.96[ASN][1000 genomes]
rs2927075	0.94[ASN][1000 genomes]
rs2957636	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2957637	0.96[ASN][1000 genomes]
rs2957639	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3099045	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3099047	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35654783	0.83[EUR][1000 genomes]
rs4332723	0.83[EUR][1000 genomes]
rs4924720	0.83[EUR][1000 genomes]
rs57865312	0.97[ASN][1000 genomes]
rs7175129	0.83[EUR][1000 genomes]
rs8042868	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv437799	chr15:43784000-43989518	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv832988	chr15:43804641-43976862	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv428304	chr15:43823158-44008580	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
7	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
8	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv428633	chr15:43823160-44008580	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1039949	chr15:43831879-43992646	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	esv2757598	chr15:43831923-44058634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	esv2761766	chr15:43834318-44014255	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv524910	chr15:43836478-43939642	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv904148	chr15:43836478-43961204	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv904149	chr15:43836478-44011113	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv904150	chr15:43836478-44040965	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
17	nsv1039818	chr15:43845410-43988541	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv1048041	chr15:43845410-43991014	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	esv2760393	chr15:43845422-44024490	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv870240	chr15:43851142-43988761	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
21	nsv534652	chr15:43851548-43948346	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv994950	chr15:43851548-43951301	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv904151	chr15:43852043-43938288	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	nsv904152	chr15:43852043-43940806	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
25	nsv904153	chr15:43852043-43951118	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
26	nsv904154	chr15:43852043-43961204	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
27	nsv904155	chr15:43852043-43988573	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
28	nsv904156	chr15:43852043-44011113	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
29	nsv904157	chr15:43852043-44019592	Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
30	nsv904158	chr15:43852043-44053617	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
31	esv3413623	chr15:43852060-43973058	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
32	esv13634	chr15:43852144-43988641	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
33	esv3506095	chr15:43853954-43953553	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
34	esv3506097	chr15:43853954-43953553	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
35	nsv1514	chr15:43859260-43996580	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
36	nsv904159	chr15:43873489-43939642	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
37	nsv904160	chr15:43873489-43940806	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
38	nsv904161	chr15:43873489-43961204	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
39	nsv904162	chr15:43873489-44011113	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
40	nsv904163	chr15:43873489-44023963	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
41	esv2421427	chr15:43885118-43988553	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
42	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
43	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
44	nsv533146	chr15:43888927-43938847	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
45	nsv868983	chr15:43888927-43951301	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
46	nsv915702	chr15:43888952-43951317	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
47	esv33424	chr15:43888955-43995223	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
48	esv3693197	chr15:43888976-43938288	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
49	nsv904164	chr15:43888976-43939642	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
50	nsv904165	chr15:43888976-43940806	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2447210	AC011330.5	cis	Artery Tibial	GTEx
rs2447210	CKMT1A	cis	Esophagus Mucosa	GTEx
rs2447210	ZSCAN29	cis	Thyroid	GTEx
rs2447210	STRCP1	cis	Thyroid	GTEx
rs2447210	AC011330.5	cis	Thyroid	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43914600-43937400	Weak transcription	Fetal Intestine Small	intestine
2	chr15:43915400-43941000	Weak transcription	Hela-S3	cervix
3	chr15:43919600-43941600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:43920400-43941400	Weak transcription	Brain Hippocampus Middle	brain
5	chr15:43921000-43940600	Weak transcription	Gastric	stomach
6	chr15:43921400-43950400	Weak transcription	Aorta	Aorta
7	chr15:43921800-43952600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:43922800-43937600	Weak transcription	Fetal Intestine Large	intestine
9	chr15:43923200-43937400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:43923200-43951800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr15:43925200-43939200	Weak transcription	Brain Angular Gyrus	brain
12	chr15:43925200-43939800	Weak transcription	Brain Anterior Caudate	brain
13	chr15:43929600-43940200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:43929800-43937600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr15:43931200-43943600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr15:43931200-43952000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr15:43931200-43952600	Weak transcription	Left Ventricle	heart
18	chr15:43931400-43939000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr15:43931400-43942400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:43932800-43943600	Weak transcription	NHEK	skin
21	chr15:43933800-43941000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:43934200-43939200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:43934200-43939600	Weak transcription	Lung	lung
24	chr15:43934200-43940200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr15:43934200-43941400	Weak transcription	Fetal Stomach	stomach
26	chr15:43934200-43941600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:43935200-43942200	Weak transcription	Esophagus	oesophagus
28	chr15:43935400-43943200	Weak transcription	Ovary	ovary
29	chr15:43935800-43937400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr15:43935800-43938200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr15:43935800-43940800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr15:43935800-43941000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr15:43935800-43941200	Weak transcription	Fetal Brain Female	brain
34	chr15:43936000-43939600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr15:43936000-43940200	Weak transcription	Colon Smooth Muscle	Colon
36	chr15:43936000-43940200	Weak transcription	Right Ventricle	heart
37	chr15:43936000-43951800	Weak transcription	Primary T cells from cord blood	blood
38	chr15:43936000-43956000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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