Variant report

Variant	rs565040716
Chromosome Location	chr14:45401651-45401652
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:45396977..45399022-chr14:45400383..45401934,2	MCF-7	breast:
2	chr14:45399670..45402178-chr14:45404869..45407117,2	K562	blood:
3	chr14:45400278..45402079-chr14:45403926..45405514,2	MCF-7	breast:
4	chr14:45401179..45403695-chr14:45430230..45432640,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179454	Chromatin interaction
ENSG00000198718	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	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
4	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
5	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
6	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
7	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
8	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
9	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45375400-45403000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:45382000-45408000	Weak transcription	Pancreas	Pancrea
3	chr14:45383000-45405800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:45384400-45406800	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:45384800-45408000	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:45386600-45405600	Weak transcription	Fetal Lung	lung
7	chr14:45386800-45405600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:45389600-45406800	Weak transcription	HSMMtube	muscle
9	chr14:45390200-45406800	Weak transcription	Fetal Stomach	stomach
10	chr14:45390400-45406600	Weak transcription	Brain Germinal Matrix	brain
11	chr14:45390400-45408200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:45390600-45408400	Weak transcription	Fetal Brain Female	brain
13	chr14:45391200-45405800	Weak transcription	Fetal Intestine Large	intestine
14	chr14:45391200-45411000	Weak transcription	HSMM	muscle
15	chr14:45391200-45413000	Weak transcription	HUVEC	blood vessel
16	chr14:45391400-45406400	Weak transcription	Fetal Intestine Small	intestine
17	chr14:45391400-45406800	Weak transcription	Thymus	Thymus
18	chr14:45394200-45413800	Weak transcription	HepG2	liver
19	chr14:45394400-45408000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:45394600-45408000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:45394800-45406800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:45395000-45408000	Weak transcription	Gastric	stomach
23	chr14:45395200-45403000	Weak transcription	GM12878-XiMat	blood
24	chr14:45395200-45403200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:45395200-45403400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:45395200-45412400	Weak transcription	Brain Anterior Caudate	brain
27	chr14:45395200-45413800	Weak transcription	Fetal Brain Male	brain
28	chr14:45395400-45403200	Weak transcription	Osteobl	bone
29	chr14:45395400-45408000	Weak transcription	Brain Angular Gyrus	brain
30	chr14:45395400-45414400	Weak transcription	NH-A	brain
31	chr14:45395600-45416200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr14:45395800-45406600	Weak transcription	Fetal Kidney	kidney
33	chr14:45395800-45408000	Weak transcription	Spleen	Spleen
34	chr14:45396200-45405600	Weak transcription	Colon Smooth Muscle	Colon
35	chr14:45396200-45405800	Weak transcription	Aorta	Aorta
36	chr14:45396200-45406800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:45396200-45428400	Weak transcription	HMEC	breast
38	chr14:45396400-45401800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr14:45396400-45406800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:45396600-45406800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr14:45396600-45408000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:45396600-45414200	Weak transcription	Ovary	ovary
43	chr14:45396600-45416400	Weak transcription	Psoas Muscle	Psoas
44	chr14:45396800-45402800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:45396800-45406000	Weak transcription	NHLF	lung
46	chr14:45396800-45408000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr14:45396800-45408000	Weak transcription	Lung	lung
48	chr14:45396800-45413000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:45396800-45414200	Weak transcription	Fetal Heart	heart
50	chr14:45397000-45414200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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