Variant report

Variant	rs8004321
Chromosome Location	chr14:21661780-21661781
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	chr14:21659836..21662080-chr14:21664452..21667045,3	MCF-7	breast:
2	chr14:21659338..21661906-chr14:21661938..21664120,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11625624	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7154382	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7156447	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21660400-21662000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:21660600-21661800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:21660600-21662000	Weak transcription	Ovary	ovary
4	chr14:21660600-21670000	Weak transcription	HSMMtube	muscle
5	chr14:21660600-21670200	Weak transcription	NH-A	brain
6	chr14:21660600-21673200	Weak transcription	Psoas Muscle	Psoas
7	chr14:21660600-21686200	Weak transcription	Right Atrium	heart
8	chr14:21660800-21661800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:21660800-21661800	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:21660800-21662000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:21660800-21665400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:21660800-21669400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:21660800-21669400	Weak transcription	Left Ventricle	heart
14	chr14:21660800-21670000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:21660800-21670200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:21660800-21670200	Weak transcription	HSMM	muscle
17	chr14:21660800-21670200	Weak transcription	NHLF	lung
18	chr14:21660800-21670200	Weak transcription	Osteobl	bone
19	chr14:21660800-21670600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:21660800-21672800	Weak transcription	Liver	Liver
21	chr14:21660800-21675200	Weak transcription	Colon Smooth Muscle	Colon
22	chr14:21660800-21678200	Weak transcription	Right Ventricle	heart
23	chr14:21660800-21679400	Weak transcription	Gastric	stomach
24	chr14:21661000-21663200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr14:21661000-21663600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:21661000-21670200	Weak transcription	Primary T cells from cord blood	blood
27	chr14:21661000-21670200	Weak transcription	Fetal Thymus	thymus
28	chr14:21661000-21670400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:21661000-21671200	Weak transcription	GM12878-XiMat	blood
30	chr14:21661000-21671400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:21661000-21671600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:21661000-21672200	Weak transcription	Primary B cells from cord blood	blood
33	chr14:21661000-21672200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:21661000-21672400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:21661000-21672400	Weak transcription	Lung	lung
36	chr14:21661000-21672800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:21661000-21672800	Weak transcription	Spleen	Spleen
38	chr14:21661000-21673000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:21661000-21673600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr14:21661000-21674800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr14:21661000-21674800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr14:21661000-21679400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:21661200-21661800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:21661200-21670800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr14:21661200-21672400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr14:21661400-21661800	Enhancers	NHDF-Ad	bronchial
47	chr14:21661400-21672800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr14:21661600-21662200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:21661600-21663400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:21661600-21663600	Weak transcription	H1 Cell Line	embryonic stem cell

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