Variant report

Variant	rs7744824
Chromosome Location	chr6:57014469-57014470
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:57014424-57014633	HepG2	liver:	n/a	n/a
2	FOS	chr6:57014415-57014577	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:56995928..56997999-chr6:57012848..57014485,2	K562	blood:
2	chr6:57011547..57015290-chr6:57018812..57021897,3	MCF-7	breast:
3	chr6:57013120..57015063-chr6:57039695..57041831,2	MCF-7	breast:
4	chr6:57009034..57011540-chr6:57013395..57014899,2	K562	blood:

Variant related genes	Relation type
ZNF451	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1157713	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12190416	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12190434	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12192711	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12210597	0.94[ASN][1000 genomes]
rs12211611	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2273921	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3734738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3778515	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800019	0.94[ASN][1000 genomes]
rs3996929	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3996937	0.80[ASN][1000 genomes]
rs6459180	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6913707	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6926980	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6928715	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6929783	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6936472	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7744316	0.94[ASN][1000 genomes]
rs7753537	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7763570	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8180538	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9349843	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9367704	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9367708	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9370564	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9370565	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9382689	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9396259	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs952647	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9885757	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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 miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv462949	chr6:56973902-57098973	ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv603190	chr6:56973902-57098973	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7744824	KIAA1586	Cis_1M	lymphoblastoid	RTeQTL
rs7744824	RAB23	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56966800-57018000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:56968200-57036400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:56968600-57018400	Weak transcription	Psoas Muscle	Psoas
4	chr6:56985600-57036800	Weak transcription	Pancreas	Pancrea
5	chr6:56991600-57036600	Weak transcription	Small Intestine	intestine
6	chr6:56993000-57017000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:56995800-57036600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:56996000-57036800	Weak transcription	Gastric	stomach
9	chr6:56996200-57036600	Weak transcription	Fetal Brain Male	brain
10	chr6:56996400-57036600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:56998800-57027400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:56999800-57036600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:57001200-57036600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:57001800-57018600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:57002600-57036600	Weak transcription	A549	lung
16	chr6:57005600-57021600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:57005600-57023400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:57005600-57023800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:57005800-57022400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:57006200-57028600	Strong transcription	Liver	Liver
21	chr6:57006600-57021600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:57006600-57036600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:57007400-57017000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:57007600-57018400	Weak transcription	Brain Angular Gyrus	brain
25	chr6:57008000-57017800	Weak transcription	Brain Substantia Nigra	brain
26	chr6:57008400-57022000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:57008600-57018600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr6:57009000-57017200	Weak transcription	Fetal Brain Female	brain
29	chr6:57009600-57016000	Weak transcription	Fetal Stomach	stomach
30	chr6:57009800-57018000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:57009800-57018000	Weak transcription	Fetal Intestine Small	intestine
32	chr6:57010000-57021400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:57010800-57024600	Strong transcription	Primary B cells from cord blood	blood
34	chr6:57011400-57020000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:57011400-57020000	Strong transcription	HepG2	liver
36	chr6:57011400-57021400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr6:57011400-57036600	Weak transcription	Stomach Mucosa	stomach
38	chr6:57011800-57014800	Strong transcription	HMEC	breast
39	chr6:57011800-57021400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:57011800-57023000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:57012000-57014600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr6:57012000-57015000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:57012000-57015800	Strong transcription	NHDF-Ad	bronchial
44	chr6:57012000-57021600	Strong transcription	Primary T cells from cord blood	blood
45	chr6:57012400-57036800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:57012800-57015600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:57012800-57016400	Weak transcription	Colon Smooth Muscle	Colon
48	chr6:57012800-57017000	Weak transcription	Brain Hippocampus Middle	brain
49	chr6:57012800-57017200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:57012800-57017200	Weak transcription	Colonic Mucosa	Colon

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