Variant report

Variant	rs1469024
Chromosome Location	chr19:18384544-18384545
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18383371..18384902-chr19:18527058..18529406,2	K562	blood:
2	chr19:18263040..18264766-chr19:18382992..18384710,2	MCF-7	breast:
3	chr19:18260692..18269532-chr19:18383927..18395911,19	K562	blood:
4	chr19:18384108..18395354-chr19:18534355..18544725,18	K562	blood:
5	chr19:18382564..18395263-chr19:18409643..18446343,165	MCF-7	breast:
6	chr19:18302787..18307396-chr19:18383842..18390051,8	K562	blood:
7	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
8	chr19:18262015..18264258-chr19:18383927..18386552,2	K562	blood:
9	chr19:18314296..18317431-chr19:18383748..18386421,3	K562	blood:
10	chr19:18314296..18317366-chr19:18383748..18385809,3	K562	blood:
11	chr19:18384527..18386649-chr19:18506859..18509715,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268650	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000239821	Chromatin interaction
ENSG00000269145	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000105649	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10406080	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10416600	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1075403	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11086102	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12608504	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12610373	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12973608	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12980403	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4531856	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4808779	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7247222	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7256111	0.89[AMR][1000 genomes]
rs8109944	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8110070	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8113367	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv911260	chr19:18288069-18386798	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv470131	chr19:18326222-18389135	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	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
10	nsv911267	chr19:18351674-18386798	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv911268	chr19:18351674-18395537	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	nsv828472	chr19:18377725-18404131	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
16	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
17	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
18	nsv578744	chr19:18380072-18392873	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases
19	esv1793726	chr19:18381600-18400786	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	104 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1469024	KIAA1683	cis	Thyroid	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18348600-18385200	Weak transcription	Right Atrium	heart
2	chr19:18366400-18389400	Weak transcription	Fetal Brain Male	brain
3	chr19:18366600-18385400	Weak transcription	Primary B cells from cord blood	blood
4	chr19:18366600-18385800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr19:18366600-18390000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:18371000-18385400	Weak transcription	HSMMtube	muscle
7	chr19:18374600-18388400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:18374800-18385200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr19:18375000-18388200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr19:18375600-18386000	Weak transcription	Fetal Kidney	kidney
11	chr19:18376200-18386400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr19:18376400-18384600	Weak transcription	Small Intestine	intestine
13	chr19:18376400-18384800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:18377200-18388800	Weak transcription	Dnd41	blood
15	chr19:18377800-18388800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr19:18378200-18384800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:18378200-18385200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr19:18378200-18385200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:18378200-18388800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:18378200-18389000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:18378400-18385000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:18378400-18385200	Weak transcription	Colonic Mucosa	Colon
23	chr19:18378600-18384600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:18378600-18384600	Weak transcription	Right Ventricle	heart
25	chr19:18378600-18384600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr19:18378600-18385200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:18378600-18385200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:18378600-18385200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:18378600-18385200	Weak transcription	Colon Smooth Muscle	Colon
30	chr19:18378600-18385200	Weak transcription	K562	blood
31	chr19:18378600-18385400	Weak transcription	Brain Germinal Matrix	brain
32	chr19:18378600-18385400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr19:18378800-18385000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr19:18378800-18385200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:18379200-18385000	Weak transcription	NHLF	lung
36	chr19:18379200-18385200	Weak transcription	Primary T cells from cord blood	blood
37	chr19:18379200-18385200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr19:18379400-18384800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr19:18379400-18385200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:18379400-18385200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:18379400-18385200	Weak transcription	Liver	Liver
42	chr19:18379400-18385200	Weak transcription	Osteobl	bone
43	chr19:18379400-18385400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr19:18379400-18385400	Weak transcription	Brain Angular Gyrus	brain
45	chr19:18379400-18385400	Weak transcription	Fetal Lung	lung
46	chr19:18379400-18385400	Weak transcription	Gastric	stomach
47	chr19:18379400-18387600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:18379400-18388800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:18379400-18388800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:18379400-18389000	Weak transcription	Aorta	Aorta

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