Variant report

Variant	rs2070342
Chromosome Location	chr14:24545366-24545367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24542884..24546835-chr14:24548833..24551522,5	K562	blood:
2	chr14:24538106..24543519-chr14:24545125..24550505,8	MCF-7	breast:
3	chr14:24543783..24548039-chr14:24613906..24618188,3	K562	blood:
4	chr14:24545336..24549384-chr14:24554434..24556599,3	MCF-7	breast:
5	chr14:24544738..24546942-chr14:24701950..24703617,2	MCF-7	breast:
6	chr14:24040173..24042645-chr14:24543729..24546206,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092051	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000100884	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000092098	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2070341	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	esv3378722	chr14:24545362-24547860	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24522200-24547200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:24522200-24549400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:24540800-24545400	Enhancers	Fetal Intestine Small	intestine
4	chr14:24541600-24550200	Weak transcription	Spleen	Spleen
5	chr14:24541800-24545400	Enhancers	Fetal Intestine Large	intestine
6	chr14:24541800-24549800	Weak transcription	Colonic Mucosa	Colon
7	chr14:24542000-24547200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:24542000-24550400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:24542400-24547200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:24543000-24548400	Weak transcription	Fetal Brain Female	brain
11	chr14:24543200-24545600	Enhancers	Gastric	stomach
12	chr14:24543200-24545600	Enhancers	Stomach Mucosa	stomach
13	chr14:24543400-24547000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:24543400-24548600	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:24543600-24546800	Weak transcription	Fetal Brain Male	brain
16	chr14:24543600-24548400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:24544000-24545800	Enhancers	Liver	Liver
18	chr14:24544000-24546800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:24544000-24550400	Weak transcription	Small Intestine	intestine
20	chr14:24544200-24545400	Enhancers	Primary B cells from cord blood	blood
21	chr14:24544200-24545800	Enhancers	Primary B cells from peripheral blood	blood
22	chr14:24544400-24545600	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr14:24544400-24546200	Weak transcription	Brain Anterior Caudate	brain
24	chr14:24544600-24545600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:24544600-24546000	Bivalent Enhancer	HepG2	liver
26	chr14:24544600-24550000	Weak transcription	Pancreas	Pancrea
27	chr14:24544800-24546400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:24545200-24545400	Enhancers	K562	blood
29	chr14:24545200-24545600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr14:24545200-24545600	Enhancers	GM12878-XiMat	blood
31	chr14:24545200-24549400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:24545200-24549800	Weak transcription	Rectal Mucosa Donor 31	rectum

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