Variant report

Variant	rs11620720
Chromosome Location	chr14:24547616-24547617
allele	A/C
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24537898..24539731-chr14:24546642..24549464,2	K562	blood:
2	chr14:24547241..24549837-chr14:24550625..24552394,2	MCF-7	breast:
3	chr14:24538106..24543519-chr14:24545125..24550505,8	MCF-7	breast:
4	chr14:24543783..24548039-chr14:24613906..24618188,3	K562	blood:
5	chr14:24545719..24548235-chr14:24559934..24562194,2	MCF-7	breast:
6	chr14:24535248..24537317-chr14:24546944..24548935,2	MCF-7	breast:
7	chr14:24536726..24542403-chr14:24546642..24552586,6	K562	blood:
8	chr14:24546002..24548017-chr14:24657591..24660026,2	MCF-7	breast:
9	chr14:24545336..24549384-chr14:24554434..24556599,3	MCF-7	breast:
10	chr14:24546516..24548358-chr14:24550728..24552939,2	K562	blood:
11	chr14:24526871..24528812-chr14:24546402..24548795,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196497	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000100884	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000259522	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1003761	1.00[MEX][hapmap]
rs10138006	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs10146665	1.00[JPT][hapmap]
rs1043612	1.00[YRI][hapmap]
rs11574512	1.00[CEU][hapmap]
rs17101262	1.00[CHD][hapmap]
rs17102177	1.00[JPT][hapmap]
rs7147300	1.00[CEU][hapmap]
rs7155723	1.00[CHD][hapmap]

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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24522200-24549400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:24541600-24550200	Weak transcription	Spleen	Spleen
3	chr14:24541800-24549800	Weak transcription	Colonic Mucosa	Colon
4	chr14:24542000-24550400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:24543000-24548400	Weak transcription	Fetal Brain Female	brain
6	chr14:24543400-24548600	Weak transcription	Brain Hippocampus Middle	brain
7	chr14:24543600-24548400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:24544000-24550400	Weak transcription	Small Intestine	intestine
9	chr14:24544600-24550000	Weak transcription	Pancreas	Pancrea
10	chr14:24545200-24549400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:24545200-24549800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:24545400-24549000	Weak transcription	Fetal Intestine Small	intestine
13	chr14:24545400-24549200	Weak transcription	Primary B cells from cord blood	blood
14	chr14:24545600-24549200	Weak transcription	GM12878-XiMat	blood
15	chr14:24545600-24550000	Weak transcription	Gastric	stomach
16	chr14:24545800-24549000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr14:24545800-24549000	Weak transcription	Liver	Liver
18	chr14:24546200-24547800	Strong transcription	Brain Anterior Caudate	brain
19	chr14:24546200-24549400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:24546600-24547800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:24546600-24549400	Enhancers	Brain Germinal Matrix	brain
22	chr14:24546800-24549000	Enhancers	Fetal Brain Male	brain
23	chr14:24547000-24548000	Enhancers	Fetal Thymus	thymus
24	chr14:24547000-24548600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:24547000-24549800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:24547200-24549200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:24547200-24549400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:24547200-24550000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:24547400-24547800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr14:24547400-24548600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:24547400-24549600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr14:24547600-24547800	Enhancers	Thymus	Thymus
33	chr14:24547600-24548200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:24547600-24548400	Enhancers	Brain Cingulate Gyrus	brain
35	chr14:24547600-24549600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr14:24547600-24550200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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