Variant report

Variant	rs11627882
Chromosome Location	chr14:24887239-24887240
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24845141..24847495-chr14:24885037..24887895,2	MCF-7	breast:
2	chr11:9600849..9601578-chr14:24886578..24887287,2	MCF-7	breast:
3	chr14:24886534..24888319-chr14:24890597..24892765,3	MCF-7	breast:
4	chr14:24879677..24881519-chr14:24885108..24887355,3	MCF-7	breast:
5	chr14:24885555..24887624-chr14:24899308..24902668,3	K562	blood:
6	chr14:24801896..24804817-chr14:24886439..24888195,2	MCF-7	breast:
7	chr14:24885943..24890700-chr14:24894774..24898947,5	K562	blood:

Variant related genes	Relation type
ENSG00000100968	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000129467	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10146609	0.80[ASN][1000 genomes]
rs1535338	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3814811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4982909	0.80[ASN][1000 genomes]
rs6573793	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7151995	1.00[AMR][1000 genomes]
rs8005307	0.85[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
rs11627882	KIAA0323	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24869400-24887800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:24869800-24887600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:24870800-24890600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:24871800-24891600	Weak transcription	Fetal Thymus	thymus
5	chr14:24873200-24887800	Weak transcription	Osteobl	bone
6	chr14:24874400-24887800	Weak transcription	NHDF-Ad	bronchial
7	chr14:24877200-24887400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:24880200-24887800	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:24880200-24888000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:24884000-24888200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:24884200-24887400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr14:24884200-24887600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:24884200-24894200	Weak transcription	Left Ventricle	heart
14	chr14:24884400-24887600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:24884600-24887400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:24884600-24887400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:24884600-24887600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:24884600-24887600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:24884600-24887600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:24884600-24887800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:24884600-24888200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:24884600-24889400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:24884600-24891800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:24884800-24887600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:24885000-24887600	Weak transcription	Fetal Lung	lung
26	chr14:24885000-24887800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr14:24885000-24888000	Weak transcription	Aorta	Aorta
28	chr14:24885200-24887600	Weak transcription	Placenta	Placenta
29	chr14:24885200-24887600	Weak transcription	Gastric	stomach
30	chr14:24885200-24897400	Weak transcription	Lung	lung
31	chr14:24885400-24887600	Weak transcription	Adipose Nuclei	Adipose
32	chr14:24885400-24887800	Weak transcription	Spleen	Spleen
33	chr14:24885600-24887400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr14:24885600-24888200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:24885800-24891200	Weak transcription	K562	blood
36	chr14:24886000-24887600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:24886200-24888200	Weak transcription	Fetal Brain Female	brain
38	chr14:24886200-24889000	Enhancers	Pancreas	Pancrea
39	chr14:24886200-24889400	Weak transcription	Brain Germinal Matrix	brain
40	chr14:24886400-24887600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:24886400-24888000	Weak transcription	Fetal Intestine Large	intestine
42	chr14:24886400-24888000	Weak transcription	Fetal Stomach	stomach
43	chr14:24886400-24888800	Enhancers	Stomach Mucosa	stomach
44	chr14:24886600-24888000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:24886600-24889800	Weak transcription	Fetal Intestine Small	intestine
46	chr14:24886600-24894400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr14:24887000-24887400	Enhancers	Colonic Mucosa	Colon
48	chr14:24887000-24887600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:24887000-24888000	Enhancers	Fetal Muscle Leg	muscle
50	chr14:24887000-24888400	Enhancers	Liver	Liver

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