Variant report

Variant	rs4900602
Chromosome Location	chr14:104364438-104364439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104311399..104315345-chr14:104362414..104366566,6	MCF-7	breast:
2	chr14:104363448..104365054-chr14:104402588..104404294,2	MCF-7	breast:
3	chr14:104351018..104353647-chr14:104363104..104364953,3	MCF-7	breast:
4	chr14:104364346..104365968-chr14:104369278..104370785,2	MCF-7	breast:
5	chr14:104343466..104345327-chr14:104362441..104364606,2	K562	blood:
6	chr14:104339589..104342587-chr14:104363761..104366521,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258914	Chromatin interaction
ENSG00000258735	Chromatin interaction
ENSG00000088808	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1053419	0.88[EUR][1000 genomes]
rs11850704	0.88[EUR][1000 genomes]
rs74086500	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74086744	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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 target site	48 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1053305	chr14:104326137-104372608	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv542205	chr14:104326137-104372608	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv542206	chr14:104326137-104377507	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1042792	chr14:104326137-104384260	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv542207	chr14:104326137-104384260	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4900602	C14orf2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104362600-104365800	Enhancers	Fetal Intestine Small	intestine
2	chr14:104362600-104366000	Enhancers	Fetal Intestine Large	intestine
3	chr14:104362800-104364800	Enhancers	Right Ventricle	heart
4	chr14:104362800-104365400	Enhancers	Gastric	stomach
5	chr14:104362800-104366600	Enhancers	Esophagus	oesophagus
6	chr14:104363200-104365000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:104363200-104365200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:104363200-104365800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:104363200-104366000	Enhancers	Stomach Mucosa	stomach
10	chr14:104363200-104366200	Weak transcription	Spleen	Spleen
11	chr14:104363200-104366800	Weak transcription	Left Ventricle	heart
12	chr14:104363200-104367400	Weak transcription	Lung	lung
13	chr14:104363200-104376400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:104363200-104387000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:104363400-104364800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:104363400-104364800	Enhancers	Liver	Liver
17	chr14:104363400-104365400	Enhancers	Pancreas	Pancrea
18	chr14:104363400-104365800	Enhancers	Duodenum Mucosa	Duodenum
19	chr14:104363400-104366200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr14:104363600-104375800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:104363800-104365000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr14:104363800-104365800	Enhancers	HepG2	liver
23	chr14:104364000-104365400	Enhancers	HMEC	breast
24	chr14:104364000-104366600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr14:104364200-104365200	Enhancers	NHEK	skin
26	chr14:104364200-104365400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:104364200-104365800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:104364400-104365000	Weak transcription	Brain Substantia Nigra	brain
29	chr14:104364400-104365200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:104364400-104365600	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr14:104364400-104366000	Enhancers	Colonic Mucosa	Colon

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