Variant report

Variant	rs11618323
Chromosome Location	chr13:96336350-96336351
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:96328846..96332337-chr13:96333954..96337404,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102580	Chromatin interaction
ENSG00000247400	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11616953	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12428035	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12429254	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12430152	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16951334	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17878753	0.87[ASN][1000 genomes]
rs17879875	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17885081	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274292	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3087341	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3099362	0.81[EUR][1000 genomes]
rs3099363	0.81[EUR][1000 genomes]
rs3101570	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3848077	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3886352	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41277668	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4409947	0.84[ASN][1000 genomes]
rs4491364	0.87[ASN][1000 genomes]
rs72636541	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7316996	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7318892	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7323408	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7331211	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7331549	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7991405	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9584324	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9590310	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9590328	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832690	chr13:96330757-96508077	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11618323	DZIP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96330200-96340800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:96330600-96336400	Weak transcription	Gastric	stomach
3	chr13:96330600-96336800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:96330600-96340800	Weak transcription	Spleen	Spleen
5	chr13:96330800-96336800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr13:96330800-96337000	Weak transcription	Lung	lung
7	chr13:96331000-96336400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr13:96331000-96336400	Weak transcription	Fetal Stomach	stomach
9	chr13:96331200-96336400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr13:96331200-96336800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:96331200-96336800	Weak transcription	Fetal Intestine Small	intestine
12	chr13:96331200-96336800	Weak transcription	Placenta	Placenta
13	chr13:96331200-96337000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr13:96331200-96339400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr13:96331400-96336400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:96331400-96336400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr13:96331400-96336400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:96331400-96336400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr13:96331400-96336400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr13:96331400-96336800	Weak transcription	Left Ventricle	heart
21	chr13:96331400-96337000	Weak transcription	Ovary	ovary
22	chr13:96331400-96337000	Weak transcription	Right Ventricle	heart
23	chr13:96331400-96350600	Weak transcription	Aorta	Aorta
24	chr13:96331400-96362200	Weak transcription	HSMM	muscle
25	chr13:96331600-96336800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr13:96331800-96336400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr13:96331800-96336400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr13:96331800-96336400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr13:96331800-96336800	Weak transcription	Adipose Nuclei	Adipose
30	chr13:96331800-96336800	Weak transcription	Small Intestine	intestine
31	chr13:96331800-96339200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:96331800-96339600	Weak transcription	Thymus	Thymus
33	chr13:96332000-96336400	Weak transcription	Brain Angular Gyrus	brain
34	chr13:96332000-96336400	Weak transcription	Brain Anterior Caudate	brain
35	chr13:96332000-96336800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:96332000-96348000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:96332200-96336400	Weak transcription	Brain Substantia Nigra	brain
38	chr13:96332400-96336400	Weak transcription	Brain Hippocampus Middle	brain
39	chr13:96332400-96336800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr13:96332400-96336800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr13:96332400-96336800	Weak transcription	Right Atrium	heart
42	chr13:96332400-96338200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr13:96332400-96340800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr13:96332400-96360400	Weak transcription	NHDF-Ad	bronchial
45	chr13:96332600-96336800	Weak transcription	Colonic Mucosa	Colon
46	chr13:96332600-96337400	Weak transcription	Fetal Intestine Large	intestine
47	chr13:96332600-96337400	Weak transcription	Osteobl	bone
48	chr13:96332600-96337600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr13:96332600-96350200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr13:96332800-96336800	Weak transcription	Duodenum Mucosa	Duodenum

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