Variant report

Variant	rs73251146
Chromosome Location	chr14:31094277-31094278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr14:31093910-31094635	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:31092450..31095408-chr14:31105361..31109368,4	K562	blood:
2	chr14:31090029..31096005-chr14:31342159..31346650,8	K562	blood:
3	chr14:31041060..31043251-chr14:31093462..31096063,2	MCF-7	breast:
4	chr14:31039096..31040626-chr14:31092692..31094445,2	MCF-7	breast:
5	chr14:31092450..31095337-chr14:31106738..31109368,2	K562	blood:
6	chr14:31092884..31094625-chr14:31094770..31097263,2	MCF-7	breast:

No data

Variant related genes	Relation type
SCFD1	TF binding region
ENSG00000092108	Chromatin interaction
ENSG00000100473	Chromatin interaction
ENSG00000257636	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12100621	1.00[AMR][1000 genomes]
rs57216699	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57549139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57618174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57677010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58653311	0.83[AFR][1000 genomes]
rs60350877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60353606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60362029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60727186	0.83[AFR][1000 genomes]
rs73251132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251151	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251156	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251167	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251168	1.00[AMR][1000 genomes]
rs73251169	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251177	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251179	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251181	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251184	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251188	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251199	0.83[AFR][1000 genomes]
rs73253017	0.83[AFR][1000 genomes]
rs73254546	0.83[AFR][1000 genomes]
rs73254548	0.83[AFR][1000 genomes]
rs73254552	0.83[AFR][1000 genomes]
rs73254553	0.83[AFR][1000 genomes]
rs73254554	0.83[AFR][1000 genomes]
rs73254555	0.83[AFR][1000 genomes]
rs73254556	0.83[AFR][1000 genomes]
rs73254560	0.83[AFR][1000 genomes]
rs73254565	0.83[AFR][1000 genomes]
rs73254568	0.83[AFR][1000 genomes]
rs73254580	0.83[AFR][1000 genomes]
rs73254583	0.83[AFR][1000 genomes]
rs73254586	0.83[AFR][1000 genomes]
rs73254588	0.83[AFR][1000 genomes]
rs73254589	0.83[AFR][1000 genomes]
rs73255979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73255992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264358	1.00[AMR][1000 genomes]
rs73264362	1.00[AFR][1000 genomes];1.00[AMR][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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS 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	50 gene(s)	inside rSNPs	diseases
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31092000-31095000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31092200-31095000	Weak transcription	Left Ventricle	heart
3	chr14:31092200-31095000	Weak transcription	Lung	lung
4	chr14:31092200-31100200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:31092200-31104000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:31092200-31121000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:31092200-31133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:31092200-31133200	Weak transcription	Esophagus	oesophagus
9	chr14:31092400-31095000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:31092400-31095200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:31092400-31095400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr14:31092400-31095600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr14:31092400-31096000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:31092400-31096200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr14:31092400-31096600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:31092400-31099600	Weak transcription	Placenta	Placenta
17	chr14:31092400-31099800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:31092400-31100200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:31092400-31122800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:31092600-31095000	Weak transcription	Colonic Mucosa	Colon
21	chr14:31092600-31095000	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:31092600-31095000	Weak transcription	Fetal Thymus	thymus
23	chr14:31092600-31096200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr14:31092600-31100000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:31092800-31094600	Enhancers	Primary T cells from cord blood	blood
26	chr14:31092800-31094800	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr14:31092800-31096000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr14:31092800-31099600	Weak transcription	HSMM	muscle
29	chr14:31092800-31100000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr14:31092800-31102000	Weak transcription	Psoas Muscle	Psoas
31	chr14:31092800-31113200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:31092800-31114200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr14:31093000-31094400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:31093000-31098200	Weak transcription	A549	lung
35	chr14:31093200-31094400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:31093200-31095000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr14:31093200-31100000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:31093400-31094600	Enhancers	Colon Smooth Muscle	Colon
39	chr14:31093400-31096000	Enhancers	Duodenum Mucosa	Duodenum
40	chr14:31093400-31096000	Enhancers	Fetal Brain Female	brain
41	chr14:31093400-31098800	Weak transcription	Fetal Intestine Small	intestine
42	chr14:31093400-31100200	Weak transcription	Fetal Intestine Large	intestine
43	chr14:31093400-31103800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:31093400-31103800	Weak transcription	Brain Hippocampus Middle	brain
45	chr14:31093600-31094600	Weak transcription	Brain Anterior Caudate	brain
46	chr14:31093600-31094600	Weak transcription	Fetal Heart	heart
47	chr14:31093600-31094800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr14:31093600-31094800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr14:31093600-31095000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:31093600-31095000	Weak transcription	Pancreas	Pancrea

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