Variant report

Variant	rs73264322
Chromosome Location	chr14:31048262-31048263
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	chr14:31028032..31029780-chr14:31047742..31049737,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092140	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17091494	1.00[AMR][1000 genomes]
rs17096939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17096960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097001	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097006	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097128	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097173	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57373297	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57482448	1.00[AMR][1000 genomes]
rs58678418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59660692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251159	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251163	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73254547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73255984	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264350	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:93 , 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	chr14:31030400-31050600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:31030400-31050600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr14:31030400-31056600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:31030400-31059200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:31031000-31052000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:31032000-31067400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:31032200-31056400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:31032400-31049400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:31032400-31067200	Weak transcription	Fetal Stomach	stomach
16	chr14:31032600-31051600	Weak transcription	Fetal Thymus	thymus
17	chr14:31032600-31051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:31032800-31051600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:31032800-31053200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:31033800-31070000	Weak transcription	Lung	lung
21	chr14:31034000-31059200	Weak transcription	Fetal Lung	lung
22	chr14:31034400-31051800	Weak transcription	HSMM	muscle
23	chr14:31035600-31054400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:31039400-31053200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:31039800-31050600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:31040000-31051600	Weak transcription	Dnd41	blood
27	chr14:31040200-31069800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:31040600-31049600	Weak transcription	Osteobl	bone
29	chr14:31040600-31057400	Weak transcription	Hela-S3	cervix
30	chr14:31041200-31051600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:31041600-31053200	Weak transcription	Brain Substantia Nigra	brain
32	chr14:31042200-31050600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:31042400-31056600	Weak transcription	NHEK	skin
34	chr14:31042800-31050000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:31042800-31051000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:31043000-31051200	Weak transcription	HMEC	breast
37	chr14:31043000-31051600	Weak transcription	HUVEC	blood vessel
38	chr14:31043000-31054400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:31043000-31056600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr14:31043000-31079600	Weak transcription	Gastric	stomach
41	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
42	chr14:31043200-31051000	Weak transcription	Primary B cells from cord blood	blood
43	chr14:31043200-31051600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:31043600-31050200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:31043600-31050600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:31044000-31051800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr14:31044200-31050800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr14:31044400-31050600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:31044400-31051000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:31044400-31051800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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