Variant report

Variant	rs60086589
Chromosome Location	chr19:18404718-18404719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18404019..18405840-chr19:18495699..18498623,2	K562	blood:
2	chr19:18404209..18404971-chr19:18433852..18434686,2	MCF-7	breast:
3	chr19:18402179..18405355-chr19:18483969..18486713,5	K562	blood:
4	chr19:18403869..18405771-chr19:18450788..18452499,2	MCF-7	breast:
5	chr19:18302170..18305660-chr19:18401195..18405858,4	K562	blood:
6	chr19:18399894..18406849-chr19:18524216..18528146,7	K562	blood:
7	chr19:18404342..18405851-chr19:18528266..18530065,2	K562	blood:
8	chr19:18403506..18405273-chr19:18495493..18497035,2	MCF-7	breast:
9	chr19:18403785..18405926-chr21:38617800..38619973,2	K562	blood:
10	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
11	chr19:18401391..18404924-chr19:18547602..18550007,3	K562	blood:
12	chr19:18399345..18407720-chr19:18430417..18436364,18	MCF-7	breast:
13	chr19:18401957..18405099-chr19:18441028..18445565,5	MCF-7	breast:
14	chr19:18319878..18322618-chr19:18403582..18405708,2	K562	blood:
15	chr19:18401371..18405274-chr19:18416257..18419267,5	MCF-7	breast:
16	chr19:18404019..18405946-chr19:18496995..18498623,2	K562	blood:
17	chr19:18402236..18405343-chr19:18407767..18411691,5	MCF-7	breast:
18	chr19:18392200..18393137-chr19:18403826..18404739,2	MCF-7	breast:
19	chr15:65587972..65588859-chr19:18403872..18404756,2	Hela-S3	cervix:
20	chr19:18351413..18353235-chr19:18403672..18406374,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000130517	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000239821	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1079165	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1079166	0.84[ASN][1000 genomes]
rs10854164	0.87[ASN][1000 genomes]
rs12459276	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12460547	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12461261	0.84[ASN][1000 genomes]
rs12461701	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12461751	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12463315	0.82[ASN][1000 genomes]
rs1421720	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1549143	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17711565	0.92[ASN][1000 genomes]
rs41347350	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41481544	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4808125	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4808778	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57090641	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58555271	0.82[EUR][1000 genomes]
rs59961449	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60170051	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62120437	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7247237	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7247767	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7248070	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8103549	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8108675	0.84[ASN][1000 genomes]
rs8108909	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
5	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
6	nsv911269	chr19:18351674-18418044	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
7	nsv911270	chr19:18351674-18422364	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
8	nsv911271	chr19:18362940-18453124	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
9	esv1833305	chr19:18378219-18408222	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
10	nsv911272	chr19:18378219-18439383	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
11	nsv911273	chr19:18386798-18454825	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	134 gene(s)	inside rSNPs	diseases
12	esv3442194	chr19:18403852-18408550	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	esv3450606	chr19:18404552-18408250	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs60086589	KIAA1683	cis	Skin Sun Exposed Lower leg	GTEx
rs60086589	KIAA1683	cis	Thyroid	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18402000-18404800	Flanking Active TSS	Colonic Mucosa	Colon
2	chr19:18402000-18405800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
3	chr19:18402000-18405800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr19:18403200-18404800	Flanking Active TSS	K562	blood
5	chr19:18403400-18404800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr19:18403400-18405400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr19:18403600-18405600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:18403600-18405600	Weak transcription	Gastric	stomach
9	chr19:18403600-18411600	Weak transcription	HSMMtube	muscle
10	chr19:18403800-18404800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:18403800-18404800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr19:18403800-18405800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr19:18403800-18406000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:18404000-18405000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr19:18404000-18405000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr19:18404000-18405000	Enhancers	Fetal Stomach	stomach
17	chr19:18404000-18405000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:18404000-18405400	Enhancers	Primary hematopoietic stem cells	blood
19	chr19:18404000-18405400	Flanking Active TSS	Hela-S3	cervix
20	chr19:18404000-18405600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:18404000-18405800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr19:18404000-18405800	Enhancers	Spleen	Spleen
23	chr19:18404000-18406000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:18404000-18406200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:18404000-18406400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr19:18404200-18404800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr19:18404200-18404800	Enhancers	Primary B cells from cord blood	blood
28	chr19:18404200-18404800	Enhancers	Brain Angular Gyrus	brain
29	chr19:18404200-18404800	Genic enhancers	Right Atrium	heart
30	chr19:18404200-18405000	Flanking Active TSS	A549	lung
31	chr19:18404200-18405200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:18404200-18405400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:18404200-18405400	Enhancers	Brain Hippocampus Middle	brain
34	chr19:18404200-18405400	Bivalent Enhancer	Fetal Intestine Small	intestine
35	chr19:18404200-18405600	Enhancers	Primary T cells from cord blood	blood
36	chr19:18404200-18405600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:18404200-18405600	Enhancers	Fetal Thymus	thymus
38	chr19:18404200-18405800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr19:18404200-18405800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:18404200-18405800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:18404200-18406000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr19:18404200-18406000	Enhancers	Placenta	Placenta
43	chr19:18404200-18406200	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr19:18404200-18406200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr19:18404200-18406200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:18404400-18404800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr19:18404400-18404800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:18404400-18404800	Bivalent Enhancer	Thymus	Thymus
49	chr19:18404400-18405000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:18404400-18405000	Enhancers	Brain Anterior Caudate	brain

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