Variant report

Variant	rs57677010
Chromosome Location	chr14:31077932-31077933
allele	A/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	MYC	chr14:31077818-31078239	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr14:31077899-31078309	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr14:31077733-31078272	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr14:31077900-31078268	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr14:31077782-31078001	MCF-7	breast:	n/a	n/a
6	STAT3	chr14:31077831-31078031	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31075132..31078327-chr14:31090098..31093775,4	MCF-7	breast:
2	chr14:31076548..31078336-chr14:31080128..31083104,2	K562	blood:
3	chr14:31070404..31072787-chr14:31077582..31080526,2	K562	blood:
4	chr14:31074562..31083390-chr14:31084587..31093565,15	K562	blood:

Variant related genes	Relation type
G2E3	TF binding region
ENSG00000092140	Chromatin interaction
ENSG00000092108	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]
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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31043000-31079600	Weak transcription	Gastric	stomach
2	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
3	chr14:31047000-31079600	Weak transcription	Pancreas	Pancrea
4	chr14:31049600-31079600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:31050200-31079800	Weak transcription	Brain Angular Gyrus	brain
6	chr14:31051800-31079600	Weak transcription	Fetal Brain Male	brain
7	chr14:31053600-31079800	Weak transcription	Brain Substantia Nigra	brain
8	chr14:31053800-31090600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:31054200-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:31054800-31087200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:31055000-31086800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:31055600-31088000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:31057800-31079800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:31058400-31080000	Weak transcription	Fetal Heart	heart
15	chr14:31059800-31080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:31061600-31090400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr14:31064200-31078200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr14:31064400-31087800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:31064800-31078000	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:31064800-31086600	Strong transcription	Dnd41	blood
21	chr14:31064800-31087800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:31065600-31086600	Strong transcription	HepG2	liver
23	chr14:31065800-31083000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:31065800-31086800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:31065800-31087000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:31065800-31087600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr14:31066000-31078200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:31066000-31082400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:31068000-31080600	Weak transcription	Right Ventricle	heart
30	chr14:31068200-31080000	Weak transcription	Esophagus	oesophagus
31	chr14:31068400-31079800	Weak transcription	Brain Hippocampus Middle	brain
32	chr14:31069000-31090600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr14:31069000-31090800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:31069600-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:31070400-31090600	Weak transcription	Spleen	Spleen
36	chr14:31071000-31078000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:31071000-31090600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:31071000-31090600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr14:31071400-31090200	Weak transcription	Fetal Brain Female	brain
40	chr14:31071400-31090400	Weak transcription	Colonic Mucosa	Colon
41	chr14:31071400-31090800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:31072000-31080000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr14:31072200-31079400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:31072200-31080000	Weak transcription	K562	blood
45	chr14:31072200-31080200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:31072200-31083600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr14:31072200-31090400	Weak transcription	Aorta	Aorta
48	chr14:31072200-31090400	Weak transcription	Colon Smooth Muscle	Colon
49	chr14:31072400-31079800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr14:31072400-31080000	Weak transcription	Brain Anterior Caudate	brain

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