Variant report

Variant	rs73347191
Chromosome Location	chr14:45369355-45369356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:45367935..45369542-chr14:45743402..45745302,2	K562	blood:
2	chr14:45355784..45358308-chr14:45369191..45370698,2	MCF-7	breast:
3	chr14:45366346..45369460-chr14:45369465..45372322,3	K562	blood:

Variant related genes	Relation type
ENSG00000259046	Chromatin interaction
ENSG00000199739	Chromatin interaction
ENSG00000179476	Chromatin interaction
ENSG00000258509	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10138021	1.00[EUR][1000 genomes]
rs10138040	1.00[EUR][1000 genomes]
rs11847093	1.00[EUR][1000 genomes]
rs11851752	1.00[EUR][1000 genomes]
rs12100894	1.00[EUR][1000 genomes]
rs28861520	1.00[EUR][1000 genomes]
rs73343267	1.00[EUR][1000 genomes]
rs73347172	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73348288	0.80[AFR][1000 genomes]
rs8015940	1.00[EUR][1000 genomes]
rs8016539	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45367200-45376400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:45367400-45370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:45367400-45371000	Weak transcription	Pancreas	Pancrea
4	chr14:45367400-45371400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:45367400-45374600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:45367400-45375200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:45367400-45375200	Weak transcription	Esophagus	oesophagus
8	chr14:45367400-45381200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:45367400-45381200	Weak transcription	Lung	lung
10	chr14:45367600-45372800	Weak transcription	Placenta	Placenta
11	chr14:45367600-45373000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:45367600-45376400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr14:45367600-45376400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:45367600-45376600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:45367600-45381400	Weak transcription	HSMM	muscle
16	chr14:45367800-45370200	Weak transcription	Fetal Brain Female	brain
17	chr14:45367800-45371000	Weak transcription	Brain Germinal Matrix	brain
18	chr14:45367800-45375000	Weak transcription	Fetal Intestine Small	intestine
19	chr14:45367800-45376400	Weak transcription	Fetal Intestine Large	intestine
20	chr14:45367800-45376800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr14:45367800-45378200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:45367800-45380000	Weak transcription	Fetal Kidney	kidney
23	chr14:45367800-45380800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:45368000-45373200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:45368000-45373200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:45368000-45373600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:45368000-45374000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:45368000-45376600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:45368000-45377000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr14:45368000-45377200	Weak transcription	Fetal Muscle Leg	muscle
31	chr14:45368000-45377800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:45368000-45377800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:45368000-45378200	Weak transcription	Primary B cells from cord blood	blood
34	chr14:45368000-45378200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr14:45368000-45380000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:45368200-45371000	Weak transcription	Aorta	Aorta
37	chr14:45368200-45371000	Weak transcription	Psoas Muscle	Psoas
38	chr14:45368200-45371200	Weak transcription	Dnd41	blood
39	chr14:45368200-45373600	Weak transcription	NH-A	brain
40	chr14:45368200-45373800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr14:45368200-45375600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:45368200-45375600	Weak transcription	Fetal Brain Male	brain
43	chr14:45368200-45376600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:45368200-45377000	Weak transcription	HUVEC	blood vessel
45	chr14:45368200-45377200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr14:45368200-45377200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:45368200-45377600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:45368200-45378000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:45368200-45378400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr14:45368200-45380000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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