Variant report

Variant	rs61988251
Chromosome Location	chr14:68031114-68031115
allele	A/G
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	TCF12	chr14:68030914-68031417	ECC-1	luminal epithelium:	n/a	n/a
2	FOS	chr14:68031105-68031178	MCF10A-Er-Src	breast:	n/a	n/a
3	USF1	chr14:68030965-68031283	ECC-1	luminal epithelium:	n/a	chr14:68031165-68031174 chr14:68031163-68031176 chr14:68031164-68031173 chr14:68031165-68031174
4	MYC	chr14:68031033-68031247	MCF10A-Er-Src	breast:	n/a	chr14:68031164-68031175
5	ESR1	chr14:68030837-68031260	ECC-1	luminal epithelium:	n/a	n/a
6	CEBPB	chr14:68030965-68031297	ECC-1	luminal epithelium:	n/a	chr14:68031230-68031241
7	USF1	chr14:68030907-68031272	ECC-1	luminal epithelium:	n/a	chr14:68031165-68031174 chr14:68031163-68031176 chr14:68031164-68031173 chr14:68031165-68031174
8	NR3C1	chr14:68030915-68031263	ECC-1	luminal epithelium:	n/a	n/a
9	CEBPB	chr14:68030950-68031398	ECC-1	luminal epithelium:	n/a	chr14:68031230-68031241
10	MAX	chr14:68030861-68031279	ECC-1	luminal epithelium:	n/a	chr14:68031164-68031175
11	ESR1	chr14:68030929-68031284	ECC-1	luminal epithelium:	n/a	n/a
12	EP300	chr14:68030935-68031285	ECC-1	luminal epithelium:	n/a	n/a
13	NFIC	chr14:68030841-68031401	ECC-1	luminal epithelium:	n/a	chr14:68031085-68031102 chr14:68031086-68031102
14	TCF12	chr14:68030867-68031399	ECC-1	luminal epithelium:	n/a	n/a
15	NFIC	chr14:68030897-68031415	ECC-1	luminal epithelium:	n/a	chr14:68031085-68031102 chr14:68031086-68031102
16	MAX	chr14:68030812-68031279	ECC-1	luminal epithelium:	n/a	chr14:68031164-68031175
17	EP300	chr14:68030786-68031403	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:68030401..68032634-chr14:68035854..68037780,2	MCF-7	breast:
2	chr14:67999015..68003161-chr14:68029425..68040471,13	MCF-7	breast:
3	chr14:68028812..68031315-chr14:68031885..68034063,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHH1	TF binding region
ENSG00000198133	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3742866	0.83[ASN][1000 genomes]
rs59155762	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61266185	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61988242	0.91[EUR][1000 genomes]
rs61988243	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61988244	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61988246	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61988247	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7150000	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68000400-68044000	Weak transcription	Spleen	Spleen
2	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
3	chr14:68003200-68039800	Weak transcription	Fetal Kidney	kidney
4	chr14:68005800-68042400	Weak transcription	NHEK	skin
5	chr14:68008800-68052200	Weak transcription	Left Ventricle	heart
6	chr14:68009000-68044800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:68009000-68050400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:68009200-68040400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:68009200-68045200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:68010200-68036400	Weak transcription	Small Intestine	intestine
11	chr14:68011800-68045000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:68011800-68054600	Weak transcription	Hela-S3	cervix
13	chr14:68012000-68033000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:68012000-68045000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:68013400-68052600	Weak transcription	Aorta	Aorta
16	chr14:68014400-68036200	Weak transcription	Colonic Mucosa	Colon
17	chr14:68016000-68033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:68018600-68042400	Weak transcription	Right Ventricle	heart
19	chr14:68020800-68033600	Weak transcription	Stomach Mucosa	stomach
20	chr14:68021400-68032200	Strong transcription	Brain Anterior Caudate	brain
21	chr14:68022800-68053000	Weak transcription	Lung	lung
22	chr14:68024200-68038000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:68024400-68033000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:68024600-68037000	Strong transcription	Fetal Intestine Small	intestine
25	chr14:68024600-68039400	Weak transcription	HepG2	liver
26	chr14:68025000-68033000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:68025200-68032800	Weak transcription	Psoas Muscle	Psoas
28	chr14:68026400-68057400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr14:68026600-68036400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:68026600-68054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:68026600-68055200	Weak transcription	HMEC	breast
32	chr14:68027200-68033400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr14:68027600-68032000	Weak transcription	Ovary	ovary
34	chr14:68027600-68045400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:68029400-68031600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:68029800-68031600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:68029800-68031800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:68029800-68031800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:68029800-68032000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr14:68029800-68032800	Weak transcription	Fetal Stomach	stomach
41	chr14:68029800-68033000	Weak transcription	Esophagus	oesophagus
42	chr14:68029800-68035800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:68029800-68040000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:68029800-68042600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:68030000-68031600	Weak transcription	Placenta	Placenta
46	chr14:68030000-68031800	Weak transcription	Brain Angular Gyrus	brain
47	chr14:68030000-68031800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:68030000-68031800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr14:68030000-68032000	Weak transcription	Pancreas	Pancrea
50	chr14:68030000-68032400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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