Variant report

Variant	rs7155561
Chromosome Location	chr14:35836217-35836218
allele	C/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	POLR2A	chr14:35836012-35837693	K562	blood:	n/a	n/a
2	HEY1	chr14:35835931-35836944	K562	blood:	n/a	n/a
3	RUNX3	chr14:35835969-35836268	GM12878	blood:	n/a	n/a
4	CBX3	chr14:35835825-35836230	K562	blood:	n/a	n/a
5	HEY1	chr14:35836213-35836883	K562	blood:	n/a	n/a
6	JUN	chr14:35834275-35837620	K562	blood:	n/a	chr14:35835528-35835536 chr14:35834851-35834860 chr14:35836358-35836366 chr14:35835528-35835536 chr14:35835529-35835536 chr14:35836354-35836365 chr14:35834867-35834877
7	CHD2	chr14:35836155-35837181	K562	blood:	n/a	n/a
8	RCOR1	chr14:35834945-35836220	K562	blood:	n/a	n/a
9	RCOR1	chr14:35834642-35837453	K562	blood:	n/a	n/a
10	POLR2A	chr14:35836136-35837423	K562	blood:	n/a	n/a
11	GTF2B	chr14:35836168-35837131	K562	blood:	n/a	n/a
12	POLR2A	chr14:35836123-35837327	K562	blood:	n/a	n/a
13	USF2	chr14:35836192-35836353	HepG2	liver:	n/a	n/a
14	ELF1	chr14:35836073-35836459	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:35834440-35837595	K562	blood:	n/a	n/a
16	POLR2A	chr14:35836077-35836917	K562	blood:	n/a	n/a
17	TAL1	chr14:35835753-35837246	K562	blood:	n/a	n/a
18	POLR2A	chr14:35836106-35837338	K562	blood:	n/a	n/a
19	TBL1XR1	chr14:35835851-35837354	K562	blood:	n/a	n/a
20	SMARCB1	chr14:35834395-35836392	Hela-S3	cervix:	n/a	chr14:35834851-35834860
21	POLR2A	chr14:35836181-35837721	K562	blood:	n/a	n/a
22	MAZ	chr14:35834181-35836269	IMR90	lung:	n/a	chr14:35835527-35835536

No.	Distal block	Cell Line	Cell type
1	chr14:35834825..35836967-chr14:35860027..35861673,2	K562	blood:
2	chr14:21736090..21738167-chr14:35834973..35837752,2	MCF-7	breast:
3	chr14:35835946..35837731-chr14:35866883..35868831,2	K562	blood:
4	chr14:35834445..35839728-chr14:35850287..35856081,6	K562	blood:
5	chr14:35832015..35837880-chr14:35867331..35875279,15	K562	blood:
6	chr14:35821826..35833396-chr14:35833928..35840799,21	K562	blood:
7	chr14:35728670..35731490-chr14:35834675..35836936,2	K562	blood:
8	chr14:35833474..35838463-chr14:35839143..35843538,8	K562	blood:
9	chr14:35833202..35845291-chr14:35869974..35876968,23	K562	blood:
10	chr14:35825567..35827487-chr14:35834461..35837123,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258860	TF binding region
ENSG00000100906	Chromatin interaction
ENSG00000258860	Chromatin interaction
ENSG00000092199	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12433012	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17514338	0.83[ASN][1000 genomes]
rs2057335	0.84[AFR][1000 genomes]
rs35706554	0.94[ASN][1000 genomes]
rs55990853	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56173145	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61251127	0.83[ASN][1000 genomes]
rs7148066	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156541	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8005252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8019505	0.84[CEU][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8020830	0.83[ASN][1000 genomes]
rs9743508	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
3	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
4	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv518090	chr14:35802483-35840241	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv528501	chr14:35825436-35840678	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35821600-35843800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:35822600-35836400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:35831600-35837800	Enhancers	Osteobl	bone
4	chr14:35831600-35839000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr14:35831600-35839400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:35831800-35838000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:35832000-35836600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:35832800-35836400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:35833000-35836400	Weak transcription	Fetal Lung	lung
10	chr14:35833000-35837000	Weak transcription	Fetal Stomach	stomach
11	chr14:35833400-35836600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:35833400-35838000	Enhancers	Fetal Intestine Small	intestine
13	chr14:35833400-35839200	Enhancers	Placenta	Placenta
14	chr14:35833600-35837600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr14:35834000-35837600	Enhancers	Fetal Intestine Large	intestine
16	chr14:35834200-35836400	Enhancers	K562	blood
17	chr14:35834200-35837200	Enhancers	Fetal Thymus	thymus
18	chr14:35834200-35837400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:35834200-35837400	Enhancers	Lung	lung
20	chr14:35834200-35837800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr14:35834200-35837800	Enhancers	Spleen	Spleen
22	chr14:35834200-35838200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:35834200-35838400	Enhancers	NHLF	lung
24	chr14:35834200-35838600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:35834200-35838600	Enhancers	HSMMtube	muscle
26	chr14:35834200-35838600	Enhancers	NH-A	brain
27	chr14:35834200-35839400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:35834200-35839400	Enhancers	Stomach Smooth Muscle	stomach
29	chr14:35834200-35840000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr14:35834200-35840200	Enhancers	Primary hematopoietic stem cells	blood
31	chr14:35834400-35836800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr14:35834400-35836800	Enhancers	Stomach Mucosa	stomach
33	chr14:35834400-35836800	Enhancers	GM12878-XiMat	blood
34	chr14:35834400-35837600	Enhancers	Brain Substantia Nigra	brain
35	chr14:35834400-35837600	Enhancers	Colonic Mucosa	Colon
36	chr14:35834400-35837600	Enhancers	Right Ventricle	heart
37	chr14:35834400-35837600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr14:35834400-35837800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:35834400-35837800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr14:35834400-35838000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:35834400-35838000	Enhancers	Left Ventricle	heart
42	chr14:35834400-35838000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr14:35834400-35838200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr14:35834400-35838200	Enhancers	Fetal Muscle Trunk	muscle
45	chr14:35834400-35838200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr14:35834400-35838400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:35834400-35838400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:35834400-35838600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:35834400-35838600	Enhancers	Fetal Heart	heart
50	chr14:35834400-35838600	Enhancers	Right Atrium	heart

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