Variant report

Variant	rs57618174
Chromosome Location	chr14:31089825-31089826
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	JUND	chr14:31089232-31089860	SK-N-SH	brain:	n/a	chr14:31089539-31089550 chr14:31089538-31089545 chr14:31089536-31089547 chr14:31089538-31089547 chr14:31089792-31089804 chr14:31089538-31089546
2	NFIC	chr14:31089325-31089846	GM12878	blood:	n/a	n/a
3	ATF2	chr14:31089253-31089845	GM12878	blood:	n/a	n/a
4	PML	chr14:31089266-31089871	GM12878	blood:	n/a	n/a
5	TEAD4	chr14:31089304-31089834	SK-N-SH	brain:	n/a	n/a
6	RUNX3	chr14:31089269-31089844	GM12878	blood:	n/a	n/a
7	ATF2	chr14:31089323-31089846	GM12878	blood:	n/a	n/a
8	JUND	chr14:31088766-31089892	SK-N-SH	brain:	n/a	chr14:31089539-31089550 chr14:31089538-31089545 chr14:31089536-31089547 chr14:31089538-31089547 chr14:31089792-31089804 chr14:31089538-31089546

No.	Distal block	Cell Line	Cell type
1	chr14:31060440..31063351-chr14:31089762..31092777,3	MCF-7	breast:
2	chr14:31074562..31083390-chr14:31084587..31093565,15	K562	blood:
3	chr14:31025231..31028884-chr14:31089510..31093231,4	MCF-7	breast:
4	chr14:31027330..31031100-chr14:31087785..31093139,9	MCF-7	breast:

Variant related genes	Relation type
SCFD1	TF binding region
ENSG00000092140	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]
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]
rs73251146	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
2	chr14:31053800-31090600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:31054200-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:31061600-31090400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr14:31069000-31090600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:31069000-31090800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:31069600-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:31070400-31090600	Weak transcription	Spleen	Spleen
9	chr14:31071000-31090600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:31071000-31090600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:31071400-31090200	Weak transcription	Fetal Brain Female	brain
12	chr14:31071400-31090400	Weak transcription	Colonic Mucosa	Colon
13	chr14:31071400-31090800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:31072200-31090400	Weak transcription	Aorta	Aorta
15	chr14:31072200-31090400	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:31072400-31090600	Weak transcription	Lung	lung
17	chr14:31073800-31090200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:31073800-31090200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:31073800-31090600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:31074400-31090200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:31074400-31090400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:31074400-31090400	Weak transcription	Fetal Intestine Small	intestine
23	chr14:31074400-31090400	Weak transcription	Fetal Stomach	stomach
24	chr14:31074400-31090600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:31074600-31090200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:31074800-31090200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:31075000-31090200	Weak transcription	Fetal Intestine Large	intestine
28	chr14:31078000-31090400	Weak transcription	Adipose Nuclei	Adipose
29	chr14:31078000-31090400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr14:31078200-31090200	Weak transcription	Psoas Muscle	Psoas
31	chr14:31078200-31090200	Weak transcription	Thymus	Thymus
32	chr14:31078200-31090400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr14:31078200-31090400	Weak transcription	Fetal Muscle Leg	muscle
34	chr14:31078400-31090400	Weak transcription	Fetal Kidney	kidney
35	chr14:31078600-31090200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr14:31080000-31090400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:31080000-31090600	Weak transcription	Fetal Brain Male	brain
38	chr14:31080200-31090400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:31080200-31090400	Weak transcription	Left Ventricle	heart
40	chr14:31080400-31090200	Weak transcription	Fetal Lung	lung
41	chr14:31080400-31090200	Weak transcription	Hela-S3	cervix
42	chr14:31080400-31090400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:31080400-31090400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr14:31080400-31090400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:31080400-31090400	Weak transcription	Brain Angular Gyrus	brain
46	chr14:31080400-31090400	Weak transcription	Brain Anterior Caudate	brain
47	chr14:31080400-31090400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr14:31080400-31090400	Weak transcription	Brain Germinal Matrix	brain
49	chr14:31080400-31090400	Weak transcription	Brain Substantia Nigra	brain
50	chr14:31080400-31090400	Weak transcription	Ovary	ovary

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