Variant report

Variant	rs2094225
Chromosome Location	chr14:21659797-21659798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21659338..21661906-chr14:21661938..21664120,2	MCF-7	breast:
2	chr14:21649811..21651897-chr14:21658475..21660736,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17102517	1.00[EUR][1000 genomes]
rs1958031	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers 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
7	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1048032	chr14:21602341-21847247	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv541978	chr14:21602341-21847247	Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS 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	52 gene(s)	inside rSNPs	diseases
12	nsv901477	chr14:21625262-21750308	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv901478	chr14:21626497-21750308	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv974434	chr14:21634973-21678548	Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS 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	9 gene(s)	inside rSNPs	diseases
15	nsv974312	chr14:21652582-21678548	Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
16	nsv1037590	chr14:21659344-21708852	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21656200-21660000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:21656400-21660000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:21659200-21659800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr14:21659200-21659800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:21659200-21660000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr14:21659200-21660000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr14:21659200-21660000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr14:21659200-21660000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
9	chr14:21659200-21660200	Enhancers	Fetal Thymus	thymus
10	chr14:21659400-21659800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:21659400-21659800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr14:21659400-21659800	Enhancers	Primary T cells from cord blood	blood
13	chr14:21659400-21659800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr14:21659400-21659800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:21659400-21659800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:21659400-21659800	Enhancers	Brain Angular Gyrus	brain
17	chr14:21659400-21659800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr14:21659400-21659800	Enhancers	K562	blood
19	chr14:21659400-21660000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr14:21659400-21660000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:21659400-21660000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr14:21659400-21660000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr14:21659400-21660000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr14:21659400-21660000	Enhancers	Primary B cells from peripheral blood	blood
25	chr14:21659400-21660000	Enhancers	Primary hematopoietic stem cells	blood
26	chr14:21659400-21660000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:21659400-21660000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr14:21659400-21660000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr14:21659400-21660000	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr14:21659400-21660000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:21659400-21660000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:21659400-21660000	Enhancers	Stomach Smooth Muscle	stomach
33	chr14:21659400-21660000	Flanking Active TSS	HepG2	liver
34	chr14:21659400-21660200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:21659400-21660400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:21659400-21660400	Active TSS	Brain Anterior Caudate	brain
37	chr14:21659400-21661000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr14:21659400-21661000	Flanking Active TSS	Dnd41	blood
39	chr14:21659600-21659800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr14:21659600-21660000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr14:21659600-21660000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr14:21659600-21660000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr14:21659600-21660000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr14:21659600-21660000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:21659600-21660000	Active TSS	Duodenum Mucosa	Duodenum
46	chr14:21659600-21660000	Enhancers	Right Atrium	heart
47	chr14:21659600-21660000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr14:21659600-21660200	Flanking Active TSS	Hela-S3	cervix
49	chr14:21659600-21660600	Active TSS	Brain Substantia Nigra	brain
50	chr14:21659600-21661000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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