Variant report

Variant	rs6573793
Chromosome Location	chr14:24888029-24888030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24886534..24888319-chr14:24890597..24892765,3	MCF-7	breast:
2	chr14:24801896..24804817-chr14:24886439..24888195,2	MCF-7	breast:
3	chr14:24885943..24890700-chr14:24894774..24898947,5	K562	blood:

Variant related genes	Relation type
ENSG00000100441	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000139899	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10146609	0.84[CHB][hapmap]
rs11627882	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1535338	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3814811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4982909	0.84[CHB][hapmap]
rs5247	1.00[MEX][hapmap]
rs7151995	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs8005307	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6573793	KIAA0323	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24870800-24890600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:24871800-24891600	Weak transcription	Fetal Thymus	thymus
3	chr14:24884000-24888200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:24884200-24894200	Weak transcription	Left Ventricle	heart
5	chr14:24884600-24888200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:24884600-24889400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:24884600-24891800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:24885200-24897400	Weak transcription	Lung	lung
9	chr14:24885600-24888200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:24885800-24891200	Weak transcription	K562	blood
11	chr14:24886200-24888200	Weak transcription	Fetal Brain Female	brain
12	chr14:24886200-24889000	Enhancers	Pancreas	Pancrea
13	chr14:24886200-24889400	Weak transcription	Brain Germinal Matrix	brain
14	chr14:24886400-24888800	Enhancers	Stomach Mucosa	stomach
15	chr14:24886600-24889800	Weak transcription	Fetal Intestine Small	intestine
16	chr14:24886600-24894400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:24887000-24888400	Enhancers	Liver	Liver
18	chr14:24887000-24888400	Enhancers	Esophagus	oesophagus
19	chr14:24887000-24888800	Enhancers	Ovary	ovary
20	chr14:24887000-24888800	Enhancers	HUVEC	blood vessel
21	chr14:24887200-24888200	Enhancers	Right Atrium	heart
22	chr14:24887200-24888400	Enhancers	Right Ventricle	heart
23	chr14:24887200-24888800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr14:24887200-24888800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:24887200-24888800	Enhancers	HMEC	breast
26	chr14:24887400-24888200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr14:24887400-24888200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr14:24887400-24888600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:24887400-24888800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr14:24887600-24888200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:24887600-24888200	Enhancers	Fetal Lung	lung
32	chr14:24887600-24888200	Active TSS	Rectal Smooth Muscle	rectum
33	chr14:24887600-24888400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:24887600-24888400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:24887600-24888400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr14:24887600-24888400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr14:24887600-24888600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:24887600-24888600	Enhancers	Adipose Nuclei	Adipose
39	chr14:24887600-24888600	Enhancers	Duodenum Mucosa	Duodenum
40	chr14:24887600-24888800	Enhancers	Placenta	Placenta
41	chr14:24887600-24888800	Enhancers	Gastric	stomach
42	chr14:24887800-24888200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:24887800-24888400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:24887800-24888400	Enhancers	Spleen	Spleen
45	chr14:24887800-24888400	Flanking Active TSS	NHEK	skin
46	chr14:24887800-24888400	Enhancers	Osteobl	bone
47	chr14:24887800-24888600	Enhancers	Colon Smooth Muscle	Colon
48	chr14:24887800-24888800	Enhancers	Colonic Mucosa	Colon
49	chr14:24888000-24888200	Enhancers	Aorta	Aorta
50	chr14:24888000-24888200	Enhancers	Brain Inferior Temporal Lobe	brain

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