Variant report

Variant	rs7759417
Chromosome Location	chr6:24649718-24649719
allele	A/C
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	POLR2A	chr6:24649714-24649757	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:24645419..24648668-chr6:24649660..24654397,7	K562	blood:
2	chr6:24646579..24649824-chr6:24666656..24668956,3	K562	blood:
3	chr6:24649500..24652136-chr6:24718347..24721312,2	K562	blood:

Variant related genes	Relation type
KIAA0319	TF binding region
ENSG00000137261	Chromatin interaction
ENSG00000112304	Chromatin interaction
ENSG00000112308	Chromatin interaction
ENSG00000111802	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1555089	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1555090	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1883592	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1883594	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2038135	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2038136	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2038137	0.87[EUR][1000 genomes]
rs2038138	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2038139	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2206525	0.80[EUR][1000 genomes]
rs2223590	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2235677	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2328846	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4712835	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6456622	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6456624	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6903205	0.81[ASN][1000 genomes]
rs6903738	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6906247	0.81[ASN][1000 genomes]
rs6923143	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6923652	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6923845	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6923867	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6935753	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs761101	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7741572	0.81[ASN][1000 genomes]
rs7755579	0.88[EUR][1000 genomes]
rs7759592	0.92[EUR][1000 genomes]
rs7759747	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7760198	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9356940	0.81[EUR][1000 genomes]
rs9356941	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9358783	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9358784	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9366575	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9366576	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9379678	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9461044	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9467244	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9467245	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3508002	chr6:24618580-24732946	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv3508003	chr6:24618580-24732946	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv601164	chr6:24625091-24661599	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv601165	chr6:24632642-24666007	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7759417	KIAA0319	cis	lung	GTEx
rs7759417	KIAA0319	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24646400-24658800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:24646600-24652200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:24646600-24655800	Weak transcription	Aorta	Aorta
4	chr6:24646800-24650000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:24646800-24650000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:24646800-24650200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:24646800-24650200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:24646800-24650400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:24646800-24650400	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:24646800-24650400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:24646800-24650400	Weak transcription	HSMM	muscle
12	chr6:24646800-24650600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:24646800-24650600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:24646800-24650600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:24646800-24650800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:24646800-24651800	Weak transcription	Fetal Stomach	stomach
17	chr6:24646800-24651800	Weak transcription	Left Ventricle	heart
18	chr6:24646800-24651800	Weak transcription	Psoas Muscle	Psoas
19	chr6:24646800-24652000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:24646800-24652000	Weak transcription	Ovary	ovary
21	chr6:24646800-24652400	Weak transcription	Fetal Lung	lung
22	chr6:24646800-24652600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:24646800-24652600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:24646800-24653000	Weak transcription	HSMMtube	muscle
25	chr6:24646800-24653200	Weak transcription	Fetal Brain Male	brain
26	chr6:24646800-24653200	Weak transcription	Gastric	stomach
27	chr6:24646800-24655600	Weak transcription	Pancreas	Pancrea
28	chr6:24646800-24662400	Weak transcription	Right Ventricle	heart
29	chr6:24646800-24662600	Weak transcription	Spleen	Spleen
30	chr6:24646800-24666000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:24647000-24649800	Weak transcription	Fetal Thymus	thymus
32	chr6:24647000-24650000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:24647000-24650000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:24647000-24650000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr6:24647000-24650000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr6:24647000-24650000	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:24647000-24650000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:24647000-24650000	Weak transcription	Small Intestine	intestine
39	chr6:24647000-24650000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr6:24647000-24650200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:24647000-24650200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:24647000-24650200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:24647000-24650200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:24647000-24650200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr6:24647000-24650200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:24647000-24650200	Weak transcription	Placenta	Placenta
47	chr6:24647000-24650200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr6:24647000-24650400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:24647000-24650400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr6:24647000-24650400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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