Variant report

Variant	rs28576742
Chromosome Location	chr14:104385714-104385715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104383999..104386148-chr14:104386377..104388170,2	MCF-7	breast:
2	chr14:104194524..104196710-chr14:104385033..104387734,2	MCF-7	breast:
3	chr14:104313555..104317821-chr14:104384318..104388009,4	MCF-7	breast:
4	chr14:104383824..104385771-chr14:104411318..104413343,2	K562	blood:
5	chr14:104377732..104380642-chr14:104385063..104387533,2	K562	blood:
6	chr14:104384353..104387196-chr14:104404625..104406851,3	MCF-7	breast:
7	chr14:104385710..104388983-chr14:104393675..104397966,4	MCF-7	breast:
8	chr14:104383824..104386788-chr14:104411318..104413343,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000088808	Chromatin interaction
ENSG00000258735	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000156414	Chromatin interaction
ENSG00000156411	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1053419	0.88[ASN][1000 genomes]
rs11850704	0.88[ASN][1000 genomes]
rs12432225	0.80[EUR][1000 genomes]
rs12434277	0.96[EUR][1000 genomes]
rs17095276	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17101928	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17101930	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17101937	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2273609	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28384386	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783311	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6576011	0.88[AFR][1000 genomes]
rs7140812	1.00[EUR][1000 genomes]
rs74086744	0.88[ASN][1000 genomes]
rs74086746	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74086758	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8014519	1.00[EUR][1000 genomes]
rs8016475	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
7	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv902322	chr14:104365310-104464809	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv902323	chr14:104381687-104464809	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28576742	C14orf2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104363200-104387000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:104375000-104385800	Weak transcription	Small Intestine	intestine
3	chr14:104376800-104386200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:104376800-104387000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:104376800-104387000	Weak transcription	Stomach Mucosa	stomach
6	chr14:104377200-104386400	Weak transcription	Fetal Heart	heart
7	chr14:104377200-104386800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:104377400-104386000	Strong transcription	Fetal Stomach	stomach
9	chr14:104378000-104385800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:104378000-104387200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:104378600-104387000	Weak transcription	NHDF-Ad	bronchial
12	chr14:104380200-104387200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:104380400-104386000	Weak transcription	Psoas Muscle	Psoas
14	chr14:104380600-104386400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:104380600-104387000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:104380600-104387000	Weak transcription	HUVEC	blood vessel
17	chr14:104380800-104385800	Weak transcription	HMEC	breast
18	chr14:104380800-104386800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr14:104381000-104385800	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:104381000-104386000	Weak transcription	Fetal Brain Male	brain
21	chr14:104381400-104385800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:104381400-104385800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:104381400-104386800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:104381600-104386000	Weak transcription	GM12878-XiMat	blood
25	chr14:104381600-104386800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:104382600-104386600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:104382600-104387000	Weak transcription	HSMMtube	muscle
28	chr14:104382800-104387000	Weak transcription	Osteobl	bone
29	chr14:104383000-104386600	Weak transcription	Primary B cells from cord blood	blood
30	chr14:104383400-104385800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr14:104383400-104387000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:104383800-104386000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:104384200-104386000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:104384200-104387000	Enhancers	Pancreas	Pancrea
35	chr14:104384200-104387000	Weak transcription	NH-A	brain
36	chr14:104384400-104385800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:104384400-104385800	Weak transcription	Adipose Nuclei	Adipose
38	chr14:104384400-104385800	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:104384400-104385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:104384400-104385800	Weak transcription	Spleen	Spleen
41	chr14:104384400-104386200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:104384400-104386800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:104384600-104385800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:104384600-104385800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr14:104384600-104385800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:104384600-104385800	Weak transcription	Brain Anterior Caudate	brain
47	chr14:104384600-104385800	Weak transcription	Placenta	Placenta
48	chr14:104384600-104385800	Weak transcription	Gastric	stomach
49	chr14:104384600-104385800	Weak transcription	Hela-S3	cervix
50	chr14:104384600-104385800	Weak transcription	HepG2	liver

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