Variant report

Variant	rs565522583
Chromosome Location	chr14:71264471-71264472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71253814..71258557-chr14:71260999..71264904,5	MCF-7	breast:
2	chr14:71258809..71265000-chr14:71273870..71277389,7	MCF-7	breast:
3	chr14:71254174..71260054-chr14:71263244..71266960,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006432	Chromatin interaction
ENSG00000259153	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71220800-71266400	Weak transcription	Fetal Intestine Large	intestine
2	chr14:71222600-71274600	Weak transcription	Hela-S3	cervix
3	chr14:71223000-71266600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:71238600-71266600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:71239000-71269600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:71242400-71266600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:71242600-71266200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr14:71246800-71266800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:71247400-71266600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:71247800-71274600	Weak transcription	Stomach Mucosa	stomach
11	chr14:71248200-71271200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:71249000-71266400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:71249400-71266200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:71249400-71266600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:71249400-71266600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:71249400-71274400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:71249400-71274400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:71249400-71274600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:71249600-71274600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:71249800-71274600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr14:71250400-71266600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:71252600-71268400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:71256600-71269600	Weak transcription	Brain Hippocampus Middle	brain
24	chr14:71257200-71274600	Weak transcription	Brain Anterior Caudate	brain
25	chr14:71257200-71274600	Weak transcription	Spleen	Spleen
26	chr14:71257800-71274800	Weak transcription	Colonic Mucosa	Colon
27	chr14:71258200-71267200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:71258400-71266400	Weak transcription	Primary B cells from cord blood	blood
29	chr14:71258600-71266400	Weak transcription	Brain Germinal Matrix	brain
30	chr14:71258800-71266400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr14:71258800-71266400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr14:71258800-71266400	Weak transcription	Placenta	Placenta
33	chr14:71258800-71266600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:71258800-71267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:71259000-71274600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr14:71259400-71266400	Weak transcription	Liver	Liver
37	chr14:71259600-71267200	Weak transcription	Lung	lung
38	chr14:71259800-71264600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:71259800-71267000	Weak transcription	Primary T cells from cord blood	blood
40	chr14:71260000-71265800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:71260000-71266400	Weak transcription	Dnd41	blood
42	chr14:71260000-71266400	Weak transcription	GM12878-XiMat	blood
43	chr14:71260000-71268600	Weak transcription	Esophagus	oesophagus
44	chr14:71260000-71274800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:71260200-71267000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:71260200-71267200	Weak transcription	Gastric	stomach
47	chr14:71260200-71268200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr14:71260800-71266400	Weak transcription	Fetal Intestine Small	intestine
49	chr14:71260800-71267000	Weak transcription	Pancreas	Pancrea
50	chr14:71261000-71265800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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