Variant report

Variant	rs11159254
Chromosome Location	chr14:77741745-77741746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:77741744-77742455	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77741494..77746628-chr14:77751488..77756217,6	MCF-7	breast:
2	chr14:77738568..77742274-chr14:77786037..77788783,3	MCF-7	breast:
3	chr14:77730051..77733003-chr14:77740176..77742640,2	MCF-7	breast:
4	chr14:77741661..77744211-chr14:77747237..77749936,2	MCF-7	breast:
5	chr14:77735572..77739063-chr14:77740094..77742423,3	K562	blood:

Variant related genes	Relation type
NGB	TF binding region
ENSG00000009830	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000165553	Chromatin interaction
ENSG00000221754	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11547794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624564	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1600005	0.89[ASN][1000 genomes]
rs2216089	0.86[ASN][1000 genomes]
rs4903565	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59730492	0.83[ASN][1000 genomes]
rs61990261	0.85[ASN][1000 genomes]
rs7158951	1.00[ASN][1000 genomes]
rs7159558	1.00[ASN][1000 genomes]
rs8009261	1.00[ASN][1000 genomes]
rs8009733	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS 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	107 gene(s)	inside rSNPs	diseases
2	nsv1361	chr14:77707417-77753024	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv902104	chr14:77720741-77756321	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77737400-77743000	Weak transcription	Dnd41	blood
2	chr14:77737800-77742800	Weak transcription	Gastric	stomach
3	chr14:77738000-77742600	Weak transcription	Pancreas	Pancrea
4	chr14:77738000-77742600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:77738200-77742400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:77738800-77741800	Weak transcription	Brain Germinal Matrix	brain
7	chr14:77738800-77743400	Weak transcription	A549	lung
8	chr14:77738800-77749600	Weak transcription	NHDF-Ad	bronchial
9	chr14:77739000-77749800	Weak transcription	HUVEC	blood vessel
10	chr14:77739200-77742000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:77739200-77742400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:77739200-77742600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:77739200-77742600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:77739200-77742600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:77739200-77742600	Weak transcription	Fetal Intestine Large	intestine
16	chr14:77739200-77743600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr14:77739400-77741800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr14:77739400-77742600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:77739400-77742800	Weak transcription	Primary T cells from cord blood	blood
20	chr14:77739400-77744600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:77739400-77745400	Weak transcription	Fetal Lung	lung
22	chr14:77739400-77749000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:77739600-77742000	Weak transcription	Esophagus	oesophagus
24	chr14:77739600-77742000	Weak transcription	Placenta	Placenta
25	chr14:77739600-77742400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:77739600-77742800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:77739600-77744400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr14:77739600-77745400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:77739600-77745600	Weak transcription	Primary B cells from cord blood	blood
30	chr14:77739600-77775600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr14:77739800-77742200	Weak transcription	Brain Anterior Caudate	brain
32	chr14:77739800-77742200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr14:77739800-77743400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:77739800-77743400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:77739800-77743800	Weak transcription	HSMMtube	muscle
36	chr14:77740000-77742400	Weak transcription	Right Ventricle	heart
37	chr14:77740000-77742600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:77740000-77744600	Weak transcription	Colonic Mucosa	Colon
39	chr14:77740000-77744600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr14:77740000-77749600	Weak transcription	HMEC	breast
41	chr14:77740200-77741800	Weak transcription	Brain Hippocampus Middle	brain
42	chr14:77740200-77742200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:77740200-77742600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:77740200-77746400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:77740200-77749600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr14:77740200-77750800	Weak transcription	Fetal Thymus	thymus
47	chr14:77740200-77766800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:77740200-77769800	Weak transcription	Small Intestine	intestine
49	chr14:77740400-77742800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:77740400-77743000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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