Variant report

Variant	rs73024609
Chromosome Location	chr19:18064055-18064056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18055988..18065489-chr19:18073307..18083163,16	K562	blood:
2	chr19:18063624..18065452-chr19:18085492..18088181,2	K562	blood:
3	chr19:18063771..18065782-chr19:18108055..18109961,2	MCF-7	breast:
4	chr19:18062540..18064652-chr19:18110369..18112055,2	MCF-7	breast:
5	chr19:17969127..17971945-chr19:18063059..18065460,2	K562	blood:

Variant related genes	Relation type
ENSG00000252591	Chromatin interaction
ENSG00000105642	Chromatin interaction
ENSG00000105640	Chromatin interaction
ENSG00000105643	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs4808726	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6512239	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6512240	0.81[EUR][1000 genomes]
rs6512241	0.84[ASN][1000 genomes]
rs6512242	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6512243	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73024608	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73024616	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8107891	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911214	chr19:17827442-18123965	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer 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 target site	109 gene(s)	inside rSNPs	diseases
4	nsv833772	chr19:17965173-18139337	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv911226	chr19:18007077-18075077	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv911227	chr19:18007077-18117646	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	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
8	nsv911228	chr19:18038782-18101830	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv911229	chr19:18042945-18117646	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv911230	chr19:18059744-18092442	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv911231	chr19:18059744-18095251	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv911232	chr19:18061509-18123965	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
14	nsv911233	chr19:18061639-18083619	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73024609	CCDC124	cis	brain	BrainEAC

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18059200-18064400	Enhancers	Pancreas	Pancrea
2	chr19:18059400-18064600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr19:18059600-18064200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
4	chr19:18059800-18064200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr19:18059800-18064400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr19:18060000-18064200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr19:18060000-18065200	Bivalent Enhancer	Placenta	Placenta
8	chr19:18061200-18064200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
9	chr19:18061400-18064200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
10	chr19:18061600-18064600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr19:18061800-18065600	Bivalent Enhancer	Fetal Intestine Small	intestine
12	chr19:18062000-18064200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:18062000-18064400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr19:18062000-18064400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:18062400-18064200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
16	chr19:18062600-18064400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:18062800-18064400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:18062800-18064800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:18063000-18065000	Bivalent Enhancer	HepG2	liver
20	chr19:18063400-18064200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
21	chr19:18063400-18064200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:18063400-18064200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr19:18063400-18064200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
24	chr19:18063400-18064200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
25	chr19:18063600-18064400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
26	chr19:18063600-18064400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
27	chr19:18063600-18065000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
28	chr19:18063600-18065000	Enhancers	Fetal Brain Male	brain
29	chr19:18063800-18064200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr19:18063800-18064200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:18063800-18064400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:18063800-18064400	Bivalent Enhancer	GM12878-XiMat	blood
33	chr19:18063800-18064800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:18063800-18064800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
35	chr19:18063800-18065000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr19:18064000-18064200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr19:18064000-18064200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr19:18064000-18064200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr19:18064000-18064200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:18064000-18064200	Flanking Active TSS	Fetal Brain Female	brain
41	chr19:18064000-18064400	Bivalent Enhancer	Right Ventricle	heart
42	chr19:18064000-18065000	Flanking Active TSS	K562	blood
43	chr19:18064000-18065200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell

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