Variant report

Variant	rs7148694
Chromosome Location	chr14:24536244-24536245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr14:24536185-24536801	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24535800..24538345-chr14:24540153..24542863,2	K562	blood:
2	chr14:24535248..24537317-chr14:24546944..24548935,2	MCF-7	breast:
3	chr14:24536199..24537984-chr14:24550100..24552438,2	MCF-7	breast:
4	chr14:24535613..24538246-chr14:24563725..24565610,3	K562	blood:
5	chr14:24534888..24536703-chr14:24538682..24540359,2	MCF-7	breast:
6	chr14:24535415..24539301-chr14:24550388..24553803,3	K562	blood:
7	chr14:24533744..24538144-chr14:24540947..24543987,3	K562	blood:
8	chr14:24535819..24538280-chr14:24562709..24565487,2	MCF-7	breast:
9	chr14:24535353..24537643-chr14:24548019..24550237,2	K562	blood:

No data

Variant related genes	Relation type
CPNE6	TF binding region
ENSG00000100884	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000100889	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10150428	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2070344	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2229464	1.00[CEU][hapmap]
rs2273303	1.00[CEU][hapmap]
rs3759622	1.00[CEU][hapmap]
rs8021991	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv1049316	chr14:24405420-24583724	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv541999	chr14:24405420-24583724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv1052180	chr14:24429298-24555710	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv516023	chr14:24489605-24550224	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1036658	chr14:24513905-24555710	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv456168	chr14:24525634-24618859	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv564057	chr14:24525634-24618859	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24522200-24539400	Weak transcription	Right Atrium	heart
2	chr14:24522200-24541000	Weak transcription	Spleen	Spleen
3	chr14:24522200-24547200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:24522200-24549400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:24522400-24540000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:24523000-24539600	Weak transcription	Brain Angular Gyrus	brain
7	chr14:24523000-24540800	Weak transcription	Brain Hippocampus Middle	brain
8	chr14:24523200-24537400	Strong transcription	Fetal Brain Female	brain
9	chr14:24523200-24541200	Weak transcription	Esophagus	oesophagus
10	chr14:24525000-24540200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:24525200-24539600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:24528000-24536600	Weak transcription	Colonic Mucosa	Colon
13	chr14:24528000-24538600	Weak transcription	Fetal Brain Male	brain
14	chr14:24528000-24540000	Weak transcription	Brain Anterior Caudate	brain
15	chr14:24528600-24541000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:24529600-24539200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:24529800-24540000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:24531600-24539400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:24532400-24541200	Weak transcription	Pancreas	Pancrea
20	chr14:24533600-24541800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:24533800-24537600	Enhancers	Fetal Intestine Large	intestine
22	chr14:24534000-24538200	Enhancers	Fetal Intestine Small	intestine
23	chr14:24534600-24536800	Flanking Active TSS	Liver	Liver
24	chr14:24534600-24540600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:24535000-24537400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr14:24535400-24537200	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr14:24535600-24536400	Enhancers	Duodenum Mucosa	Duodenum
28	chr14:24535800-24538800	Strong transcription	Brain Germinal Matrix	brain
29	chr14:24536000-24537200	Flanking Bivalent TSS/Enh	HepG2	liver
30	chr14:24536200-24536600	Enhancers	Brain Substantia Nigra	brain
31	chr14:24536200-24536800	Enhancers	Sigmoid Colon	Sigmoid Colon

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