Variant report

Variant	rs60819629
Chromosome Location	chr15:83703678-83703679
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83689271..83691893-chr15:83703534..83705255,2	K562	blood:
2	chr15:83692532..83694515-chr15:83702974..83705077,2	K562	blood:

Variant related genes	Relation type
ENSG00000259767	Chromatin interaction
ENSG00000260351	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs1010820	0.84[EUR][1000 genomes]
rs10520576	0.84[EUR][1000 genomes]
rs1075619	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1112404	0.85[EUR][1000 genomes]
rs11259965	0.84[EUR][1000 genomes]
rs11259967	0.81[EUR][1000 genomes]
rs11259968	0.85[EUR][1000 genomes]
rs11259970	0.85[EUR][1000 genomes]
rs11852287	0.81[EUR][1000 genomes]
rs11852408	0.85[EUR][1000 genomes]
rs11852446	0.85[EUR][1000 genomes]
rs11852496	0.82[EUR][1000 genomes]
rs11853498	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854888	0.84[EUR][1000 genomes]
rs11855639	0.84[EUR][1000 genomes]
rs11855722	1.00[ASN][1000 genomes]
rs11856164	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11856806	0.85[EUR][1000 genomes]
rs11857428	0.86[EUR][1000 genomes]
rs11857641	0.83[EUR][1000 genomes]
rs11858162	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11858377	0.86[EUR][1000 genomes]
rs11858468	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437558	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437858	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12437901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438398	0.84[EUR][1000 genomes]
rs12438575	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439903	0.85[EUR][1000 genomes]
rs12440265	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440386	0.86[EUR][1000 genomes]
rs12440562	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441006	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441409	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441847	0.85[EUR][1000 genomes]
rs12441907	1.00[ASN][1000 genomes]
rs12442894	0.82[EUR][1000 genomes]
rs12443109	0.85[EUR][1000 genomes]
rs12443424	0.85[EUR][1000 genomes]
rs12591855	0.85[EUR][1000 genomes]
rs12593532	0.84[EUR][1000 genomes]
rs12593638	0.82[EUR][1000 genomes]
rs12595330	0.85[EUR][1000 genomes]
rs17361375	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17507693	0.85[EUR][1000 genomes]
rs17507763	0.85[EUR][1000 genomes]
rs17508610	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509233	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17567151	0.84[EUR][1000 genomes]
rs17567869	0.82[EUR][1000 genomes]
rs17568298	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17568459	0.85[EUR][1000 genomes]
rs1901544	0.81[EUR][1000 genomes]
rs2034618	0.85[EUR][1000 genomes]
rs4300612	1.00[ASN][1000 genomes]
rs4408505	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4423388	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480763	1.00[ASN][1000 genomes]
rs4547301	1.00[ASN][1000 genomes]
rs4563011	0.83[EUR][1000 genomes]
rs4572349	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4779064	1.00[ASN][1000 genomes]
rs55683536	0.85[EUR][1000 genomes]
rs55691648	1.00[ASN][1000 genomes]
rs55756182	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55878453	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55933526	1.00[ASN][1000 genomes]
rs55934845	1.00[ASN][1000 genomes]
rs56045305	0.84[EUR][1000 genomes]
rs56052029	0.84[EUR][1000 genomes]
rs56352317	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57219675	0.85[EUR][1000 genomes]
rs57729044	0.85[EUR][1000 genomes]
rs58006707	0.85[EUR][1000 genomes]
rs58281154	0.85[EUR][1000 genomes]
rs58396076	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59896565	0.84[EUR][1000 genomes]
rs60344060	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61267530	0.82[EUR][1000 genomes]
rs62010162	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010164	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010165	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010166	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010170	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010172	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010173	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010174	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010175	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010177	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010208	1.00[ASN][1000 genomes]
rs62010212	0.85[EUR][1000 genomes]
rs62010214	0.83[EUR][1000 genomes]
rs62010215	0.85[EUR][1000 genomes]
rs62010220	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010247	1.00[ASN][1000 genomes]
rs62010248	0.85[EUR][1000 genomes]
rs62010252	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010254	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010255	0.85[EUR][1000 genomes]
rs62010258	0.85[EUR][1000 genomes]
rs62011742	0.86[EUR][1000 genomes]
rs62011744	0.89[EUR][1000 genomes]
rs62011869	0.86[EUR][1000 genomes]
rs62025914	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62025915	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6603042	1.00[ASN][1000 genomes]
rs66619192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66757932	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67022650	0.87[EUR][1000 genomes]
rs67933024	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164083	0.84[EUR][1000 genomes]
rs7165114	0.85[EUR][1000 genomes]
rs7165978	0.84[EUR][1000 genomes]
rs7172590	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72755992	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7495630	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7495911	0.85[EUR][1000 genomes]
rs8027577	0.85[EUR][1000 genomes]
rs8031723	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8035852	0.97[AFR][1000 genomes]
rs8038486	0.84[EUR][1000 genomes]
rs8043224	0.86[EUR][1000 genomes]
rs965263	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965264	0.84[EUR][1000 genomes]
rs9707895	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv482308	chr15:83584918-83747362	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83681000-83705000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:83681200-83710200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:83681600-83732000	Weak transcription	Stomach Mucosa	stomach
4	chr15:83682000-83708400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:83682200-83708600	Weak transcription	Fetal Heart	heart
6	chr15:83683000-83723000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:83683400-83726600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:83687000-83708200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:83687600-83709600	Weak transcription	Brain Angular Gyrus	brain
10	chr15:83688800-83708800	Weak transcription	Fetal Brain Male	brain
11	chr15:83689200-83705200	Weak transcription	Psoas Muscle	Psoas
12	chr15:83689400-83705000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:83689400-83708600	Weak transcription	NHEK	skin
14	chr15:83690000-83708200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:83690000-83708800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr15:83690400-83708000	Weak transcription	Brain Germinal Matrix	brain
17	chr15:83695000-83704000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr15:83695000-83704200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr15:83695400-83714600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:83695800-83715400	Weak transcription	HSMMtube	muscle
21	chr15:83696400-83708200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:83697000-83705000	Weak transcription	Fetal Kidney	kidney
23	chr15:83697600-83705200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr15:83697800-83721000	Strong transcription	Fetal Intestine Large	intestine
25	chr15:83698400-83708600	Weak transcription	Brain Anterior Caudate	brain
26	chr15:83698600-83708200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:83698600-83709600	Weak transcription	Colon Smooth Muscle	Colon
28	chr15:83698800-83705000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:83698800-83705200	Weak transcription	Fetal Lung	lung
30	chr15:83698800-83705400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr15:83698800-83708200	Weak transcription	HUVEC	blood vessel
32	chr15:83698800-83708600	Weak transcription	HMEC	breast
33	chr15:83698800-83712000	Weak transcription	Colonic Mucosa	Colon
34	chr15:83699000-83705000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr15:83699000-83705000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr15:83699000-83707400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr15:83699000-83708200	Weak transcription	Left Ventricle	heart
38	chr15:83699000-83708200	Weak transcription	Ovary	ovary
39	chr15:83699000-83708200	Weak transcription	Right Ventricle	heart
40	chr15:83699000-83708200	Weak transcription	Spleen	Spleen
41	chr15:83699000-83708200	Weak transcription	NHLF	lung
42	chr15:83699000-83708400	Weak transcription	Pancreas	Pancrea
43	chr15:83699000-83708600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr15:83699000-83708600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:83699000-83708600	Weak transcription	Placenta	Placenta
46	chr15:83699000-83708800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr15:83699000-83709000	Weak transcription	Small Intestine	intestine
48	chr15:83699000-83710000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr15:83699000-83712000	Weak transcription	Gastric	stomach
50	chr15:83699000-83715800	Weak transcription	Brain Substantia Nigra	brain

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