Variant report

Variant	rs73264330
Chromosome Location	chr14:31051359-31051360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31050351..31051956-chr14:31066246..31068332,2	MCF-7	breast:
2	chr14:31038615..31040307-chr14:31049881..31051586,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092140	Chromatin interaction

Extended variants
information (count: 59 )
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]
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]
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:3 , 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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31029000-31071800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31029200-31071800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:31029400-31059400	Weak transcription	Left Ventricle	heart
4	chr14:31029400-31060400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:31029800-31054000	Weak transcription	Fetal Intestine Large	intestine
6	chr14:31030200-31053200	Weak transcription	Fetal Muscle Leg	muscle
7	chr14:31030400-31056600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:31030400-31059200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:31031000-31052000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:31032000-31067400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:31032200-31056400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:31032400-31067200	Weak transcription	Fetal Stomach	stomach
13	chr14:31032600-31051600	Weak transcription	Fetal Thymus	thymus
14	chr14:31032600-31051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:31032800-31051600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:31032800-31053200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:31033800-31070000	Weak transcription	Lung	lung
18	chr14:31034000-31059200	Weak transcription	Fetal Lung	lung
19	chr14:31034400-31051800	Weak transcription	HSMM	muscle
20	chr14:31035600-31054400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:31039400-31053200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:31040000-31051600	Weak transcription	Dnd41	blood
23	chr14:31040200-31069800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:31040600-31057400	Weak transcription	Hela-S3	cervix
25	chr14:31041200-31051600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:31041600-31053200	Weak transcription	Brain Substantia Nigra	brain
27	chr14:31042400-31056600	Weak transcription	NHEK	skin
28	chr14:31043000-31051600	Weak transcription	HUVEC	blood vessel
29	chr14:31043000-31054400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:31043000-31056600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:31043000-31079600	Weak transcription	Gastric	stomach
32	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
33	chr14:31043200-31051600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:31044000-31051800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:31044400-31051800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:31044400-31053200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:31045000-31051600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr14:31045000-31070000	Weak transcription	Aorta	Aorta
39	chr14:31045800-31067400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:31046800-31051600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:31046800-31069800	Weak transcription	Fetal Kidney	kidney
42	chr14:31047000-31051600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:31047000-31051600	Weak transcription	Thymus	Thymus
44	chr14:31047000-31052600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:31047000-31053200	Weak transcription	NHDF-Ad	bronchial
46	chr14:31047000-31055400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr14:31047000-31058800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr14:31047000-31058800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr14:31047000-31059000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr14:31047000-31059000	Weak transcription	NH-A	brain

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