Variant report

Variant	rs11622661
Chromosome Location	chr14:67909497-67909498
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	FOXA1	chr14:67909208-67909599	HepG2	liver:	n/a	chr14:67909394-67909409
2	ESR1	chr14:67909138-67909554	T-47D	breast:	n/a	n/a
3	FOXA1	chr14:67909173-67909574	HepG2	liver:	n/a	chr14:67909394-67909409
4	FOXA2	chr14:67909056-67909648	HepG2	liver:	n/a	n/a
5	EP300	chr14:67909177-67909545	HepG2	liver:	n/a	n/a
6	FOXA1	chr14:67909169-67909585	HepG2	liver:	n/a	chr14:67909394-67909409
7	BHLHE40	chr14:67909358-67909547	HepG2	liver:	n/a	n/a
8	ESR1	chr14:67909128-67909525	T-47D	breast:	n/a	n/a
9	FOXA1	chr14:67909190-67909624	T-47D	breast:	n/a	chr14:67909394-67909409
10	FOXA1	chr14:67909178-67909705	T-47D	breast:	n/a	chr14:67909394-67909409
11	FOXA2	chr14:67909263-67909533	HepG2	liver:	n/a	n/a
12	FOXA1	chr14:67909151-67909663	HepG2	liver:	n/a	chr14:67909394-67909409
13	NR2F2	chr14:67908982-67909698	MCF-7	breast:	n/a	n/a
14	MXI1	chr14:67909233-67909514	HepG2	liver:	n/a	n/a
15	USF1	chr14:67909419-67909659	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:67908947..67909688-chr14:67946562..67947331,3	MCF-7	breast:
2	chr14:67908929..67909688-chr14:67946732..67947393,3	MCF-7	breast:
3	chr14:67908880..67909947-chr14:67946478..67947292,3	MCF-7	breast:
4	chr14:67902911..67909562-chr14:67998675..68002742,8	MCF-7	breast:

Variant related genes	Relation type
MIR5694	TF binding region
ENSG00000198133	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10139090	1.00[ASN][1000 genomes]
rs11627508	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11851098	1.00[ASN][1000 genomes]
rs28558685	1.00[ASN][1000 genomes]
rs71421373	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67898600-67919800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:67903200-67912600	Weak transcription	Psoas Muscle	Psoas
3	chr14:67904000-67909800	Enhancers	Pancreas	Pancrea
4	chr14:67906400-67916200	Enhancers	Fetal Intestine Small	intestine
5	chr14:67907400-67909600	Enhancers	Left Ventricle	heart
6	chr14:67907600-67910200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:67907600-67910400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:67907800-67913200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:67908200-67909600	Enhancers	Fetal Heart	heart
10	chr14:67908200-67913000	Weak transcription	Stomach Mucosa	stomach
11	chr14:67908200-67913200	Weak transcription	Esophagus	oesophagus
12	chr14:67908400-67910400	Weak transcription	Placenta	Placenta
13	chr14:67908800-67909800	Enhancers	Fetal Intestine Large	intestine
14	chr14:67909200-67909600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:67909200-67909600	Enhancers	Colonic Mucosa	Colon
16	chr14:67909200-67909600	Enhancers	Duodenum Mucosa	Duodenum
17	chr14:67909200-67909600	Bivalent Enhancer	HepG2	liver
18	chr14:67909200-67909800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr14:67909200-67910200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr14:67909200-67912200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:67909200-67914800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:67909400-67909600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr14:67909400-67909600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:67909400-67910200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:67909400-67910800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:67909400-67910800	Enhancers	NHEK	skin
27	chr14:67909400-67911000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr14:67909400-67911000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:67909400-67912800	Weak transcription	Right Atrium	heart
30	chr14:67909400-67913200	Weak transcription	Right Ventricle	heart
31	chr14:67909400-67913800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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