Variant report

Variant	rs11846502
Chromosome Location	chr14:45399849-45399850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:45398150..45400836-chr14:45722442..45724044,2	MCF-7	breast:
2	chr14:45399670..45402178-chr14:45404869..45407117,2	K562	blood:
3	chr14:45399111..45401626-chr14:45721272..45724209,3	MCF-7	breast:
4	chr14:45398876..45401534-chr14:45602773..45604784,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100442	Chromatin interaction
ENSG00000129534	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17115680	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17115690	0.81[ASW][hapmap];1.00[CEU][hapmap]
rs17115692	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];0.90[MKK][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56803309	0.81[AFR][1000 genomes]
rs57261684	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57489965	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58557583	1.00[ASN][1000 genomes]
rs73334118	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73334121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74046533	0.81[AFR][1000 genomes]
rs74046535	0.83[AFR][1000 genomes]
rs74046536	1.00[AMR][1000 genomes]
rs8016080	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11846502	C14orf28	cis	lymphoblastoid	seeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45375400-45403000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:45382000-45400600	Weak transcription	Left Ventricle	heart
3	chr14:45382000-45408000	Weak transcription	Pancreas	Pancrea
4	chr14:45383000-45405800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:45384400-45406800	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:45384800-45408000	Weak transcription	Brain Hippocampus Middle	brain
7	chr14:45386600-45405600	Weak transcription	Fetal Lung	lung
8	chr14:45386800-45405600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:45389600-45406800	Weak transcription	HSMMtube	muscle
10	chr14:45390200-45406800	Weak transcription	Fetal Stomach	stomach
11	chr14:45390400-45400600	Weak transcription	Primary T cells from cord blood	blood
12	chr14:45390400-45406600	Weak transcription	Brain Germinal Matrix	brain
13	chr14:45390400-45408200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:45390600-45408400	Weak transcription	Fetal Brain Female	brain
15	chr14:45391200-45400000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:45391200-45405800	Weak transcription	Fetal Intestine Large	intestine
17	chr14:45391200-45411000	Weak transcription	HSMM	muscle
18	chr14:45391200-45413000	Weak transcription	HUVEC	blood vessel
19	chr14:45391400-45406400	Weak transcription	Fetal Intestine Small	intestine
20	chr14:45391400-45406800	Weak transcription	Thymus	Thymus
21	chr14:45394200-45413800	Weak transcription	HepG2	liver
22	chr14:45394400-45408000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:45394600-45408000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:45394800-45406800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:45395000-45408000	Weak transcription	Gastric	stomach
26	chr14:45395200-45403000	Weak transcription	GM12878-XiMat	blood
27	chr14:45395200-45403200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:45395200-45403400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr14:45395200-45412400	Weak transcription	Brain Anterior Caudate	brain
30	chr14:45395200-45413800	Weak transcription	Fetal Brain Male	brain
31	chr14:45395400-45403200	Weak transcription	Osteobl	bone
32	chr14:45395400-45408000	Weak transcription	Brain Angular Gyrus	brain
33	chr14:45395400-45414400	Weak transcription	NH-A	brain
34	chr14:45395600-45400000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:45395600-45416200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr14:45395800-45406600	Weak transcription	Fetal Kidney	kidney
37	chr14:45395800-45408000	Weak transcription	Spleen	Spleen
38	chr14:45396000-45401000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr14:45396200-45405600	Weak transcription	Colon Smooth Muscle	Colon
40	chr14:45396200-45405800	Weak transcription	Aorta	Aorta
41	chr14:45396200-45406800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:45396200-45428400	Weak transcription	HMEC	breast
43	chr14:45396400-45400600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:45396400-45401800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr14:45396400-45406800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:45396600-45406800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr14:45396600-45408000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr14:45396600-45414200	Weak transcription	Ovary	ovary
49	chr14:45396600-45416400	Weak transcription	Psoas Muscle	Psoas
50	chr14:45396800-45402800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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