Variant report

Variant	rs7140812
Chromosome Location	chr14:104367449-104367450
allele	A/G
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104367112..104367864-chr14:104467134..104467957,2	K562	blood:
2	chr14:104366230..104369087-chr14:104370576..104372362,2	MCF-7	breast:
3	chr14:104367293..104369155-chr14:104426158..104428921,2	K562	blood:
4	chr14:104367142..104368042-chr14:104376703..104377288,2	MCF-7	breast:
5	chr14:104366173..104368914-chr14:104369657..104372808,3	MCF-7	breast:
6	chr14:104367307..104367972-chr14:104447086..104447644,2	MCF-7	breast:
7	chr14:104367158..104368083-chr14:104376457..104377219,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264439	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10131792	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs10142229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs1053419	1.00[CHB][hapmap]
rs11850704	1.00[CHB][hapmap]
rs12432225	0.80[EUR][1000 genomes]
rs12434277	0.96[EUR][1000 genomes]
rs17095276	0.91[EUR][1000 genomes]
rs17101928	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs17101930	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs17101937	0.91[EUR][1000 genomes]
rs17101946	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17101950	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17101951	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17101952	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2273609	0.96[EUR][1000 genomes]
rs28384386	0.96[EUR][1000 genomes]
rs28576742	1.00[EUR][1000 genomes]
rs3783311	0.96[EUR][1000 genomes]
rs3783312	0.88[CHB][hapmap]
rs74086746	0.96[EUR][1000 genomes]
rs74086758	0.96[EUR][1000 genomes]
rs8014519	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
15	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7140812	C14orf2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104363200-104376400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:104363200-104387000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:104363600-104375800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:104364800-104375800	Weak transcription	Right Ventricle	heart
5	chr14:104365000-104377400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:104365400-104375800	Weak transcription	Gastric	stomach
7	chr14:104365800-104367600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:104366000-104370800	Weak transcription	Stomach Mucosa	stomach
9	chr14:104366200-104376400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:104366400-104375800	Weak transcription	Spleen	Spleen
11	chr14:104366600-104377400	Weak transcription	Esophagus	oesophagus
12	chr14:104367200-104367600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:104367200-104367800	Enhancers	Pancreas	Pancrea
14	chr14:104367200-104367800	Enhancers	HepG2	liver
15	chr14:104367400-104367600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr14:104367400-104367600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr14:104367400-104367600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:104367400-104367600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:104367400-104367600	Bivalent Enhancer	Brain Substantia Nigra	brain
20	chr14:104367400-104367600	Flanking Active TSS	Colonic Mucosa	Colon
21	chr14:104367400-104367600	Enhancers	Fetal Intestine Large	intestine
22	chr14:104367400-104367600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr14:104367400-104367600	Enhancers	NHLF	lung
24	chr14:104367400-104367800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr14:104367400-104367800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr14:104367400-104367800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:104367400-104367800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr14:104367400-104367800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr14:104367400-104367800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:104367400-104367800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:104367400-104367800	Enhancers	Liver	Liver
32	chr14:104367400-104367800	Enhancers	Duodenum Mucosa	Duodenum
33	chr14:104367400-104367800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr14:104367400-104367800	Enhancers	Fetal Intestine Small	intestine
35	chr14:104367400-104367800	Enhancers	Fetal Thymus	thymus
36	chr14:104367400-104367800	Enhancers	Lung	lung
37	chr14:104367400-104367800	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr14:104367400-104367800	Enhancers	Right Atrium	heart

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