Variant report

Variant	rs2145031
Chromosome Location	chr14:35343629-35343630
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:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35341948..35345853-chr14:35449382..35453241,7	K562	blood:
2	chr14:35341168..35344675-chr14:35590606..35593872,6	MCF-7	breast:
3	chr14:35341498..35344850-chr14:35591184..35593267,3	K562	blood:
4	chr14:35341867..35346512-chr14:35447191..35456965,26	MCF-7	breast:
5	chr14:35097894..35099748-chr14:35341381..35343942,2	K562	blood:
6	chr14:35331154..35334713-chr14:35340036..35344743,5	K562	blood:
7	chr14:35007550..35010317-chr14:35342022..35344512,2	K562	blood:
8	chr14:35342985..35344751-chr15:34393746..34395266,2	MCF-7	breast:
9	chr14:35341203..35346354-chr14:35872500..35877183,6	MCF-7	breast:
10	chr14:35342615..35344582-chr17:57913472..57916215,2	MCF-7	breast:
11	chr14:35342567..35345567-chr14:35590904..35592504,3	MCF-7	breast:
12	chr14:35239285..35241333-chr14:35342948..35344948,2	MCF-7	breast:
13	chr14:35343366..35345021-chr14:35390010..35392504,2	MCF-7	breast:
14	chr14:35343382..35345457-chr14:35494554..35496991,2	MCF-7	breast:
15	chr14:35343222..35344773-chr14:35872622..35874877,2	MCF-7	breast:
16	chr14:35096806..35099646-chr14:35341739..35344917,3	MCF-7	breast:
17	chr14:35341151..35344721-chr14:35870913..35875092,3	K562	blood:
18	chr14:35007550..35010391-chr14:35343012..35345148,2	K562	blood:
19	chr14:35342738..35344659-chr14:35589687..35591484,2	K562	blood:
20	chr14:35327682..35333013-chr14:35342164..35345913,7	MCF-7	breast:
21	chr1:109967870..109970435-chr14:35342880..35344902,2	MCF-7	breast:
22	chr14:35341954..35346847-chr14:35449484..35456301,15	MCF-7	breast:
23	chr14:35342612..35346213-chr14:35514260..35516898,3	K562	blood:
24	chr14:35341141..35345954-chr14:35450498..35453739,11	K562	blood:
25	chr14:35310484..35315541-chr14:35341782..35344711,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRP54-1	chr14:35343549-35345665	ENSG00000258738.1

No data

Variant related genes	Relation type
ENSG00000129518	Chromatin interaction
ENSG00000151327	Chromatin interaction
ENSG00000258790	Chromatin interaction
ENSG00000129515	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000258493	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000251726	Chromatin interaction
ENSG00000092020	Chromatin interaction
ENSG00000134153	Chromatin interaction
ENSG00000198604	Chromatin interaction
ENSG00000182405	Chromatin interaction
ENSG00000100883	Chromatin interaction
ENSG00000258704	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000143106	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10133537	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11623145	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200413	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1200415	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1950770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28628142	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28686888	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7148005	0.93[ASN][1000 genomes]
rs799672	0.83[AMR][1000 genomes]
rs799676	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
8	esv3361541	chr14:35342726-35345574	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35341400-35345400	Active TSS	GM12878-XiMat	blood
2	chr14:35341600-35345200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr14:35341600-35345400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:35341800-35345000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:35341800-35345000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:35341800-35345000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:35341800-35345000	Active TSS	Fetal Kidney	kidney
8	chr14:35341800-35345000	Active TSS	Psoas Muscle	Psoas
9	chr14:35341800-35345000	Active TSS	NH-A	brain
10	chr14:35341800-35345000	Active TSS	NHLF	lung
11	chr14:35341800-35345200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:35341800-35345200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:35341800-35345200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:35341800-35345200	Active TSS	Stomach Smooth Muscle	stomach
15	chr14:35341800-35345200	Active TSS	Thymus	Thymus
16	chr14:35341800-35345200	Active TSS	HSMMtube	muscle
17	chr14:35341800-35345200	Active TSS	NHDF-Ad	bronchial
18	chr14:35342000-35344600	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr14:35342000-35344800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:35342000-35344800	Active TSS	Adipose Nuclei	Adipose
21	chr14:35342000-35344800	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr14:35342000-35345000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr14:35342000-35345000	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr14:35342000-35345000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:35342000-35345000	Active TSS	Primary T cells fromperipheralblood	blood
26	chr14:35342000-35345000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:35342000-35345000	Active TSS	Fetal Intestine Large	intestine
28	chr14:35342000-35345000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr14:35342000-35345000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr14:35342000-35345000	Active TSS	HSMM	muscle
31	chr14:35342000-35345200	Active TSS	Colon Smooth Muscle	Colon
32	chr14:35342000-35345200	Active TSS	Fetal Thymus	thymus
33	chr14:35342200-35344600	Active TSS	Brain Hippocampus Middle	brain
34	chr14:35342200-35344800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:35342200-35344800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr14:35342200-35344800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:35342200-35344800	Active TSS	Fetal Brain Female	brain
38	chr14:35342200-35344800	Active TSS	Small Intestine	intestine
39	chr14:35342200-35345000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr14:35342200-35345000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:35342200-35345000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr14:35342200-35345000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:35342200-35345000	Active TSS	Brain Angular Gyrus	brain
44	chr14:35342200-35345000	Active TSS	Brain Anterior Caudate	brain
45	chr14:35342200-35345000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:35342200-35345000	Active TSS	Brain Substantia Nigra	brain
47	chr14:35342200-35345000	Active TSS	Fetal Intestine Small	intestine
48	chr14:35342200-35345000	Active TSS	Fetal Lung	lung
49	chr14:35342200-35345000	Active TSS	Fetal Muscle Trunk	muscle
50	chr14:35342200-35345000	Active TSS	Ovary	ovary

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