Variant report

Variant	rs548902248
Chromosome Location	chr14:21673137-21673138
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21671465..21674942-chr14:21676988..21681110,7	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNRNPC-1	chr14:21668238-21673662	ENSG00000258441

Variant related genes	Relation type
ENSG00000092199	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:19 , 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
18	nsv541979	chr14:21672540-21735893	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
19	nsv541980	chr14:21672540-21742729	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21660600-21673200	Weak transcription	Psoas Muscle	Psoas
2	chr14:21660600-21686200	Weak transcription	Right Atrium	heart
3	chr14:21660800-21675200	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:21660800-21678200	Weak transcription	Right Ventricle	heart
5	chr14:21660800-21679400	Weak transcription	Gastric	stomach
6	chr14:21661000-21673600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:21661000-21674800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr14:21661000-21674800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:21661000-21679400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:21664000-21675000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:21664000-21675400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:21664800-21677600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:21665400-21677000	Weak transcription	Ovary	ovary
14	chr14:21666000-21675400	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:21667800-21675400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:21668200-21673600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:21669000-21674600	Weak transcription	Hela-S3	cervix
18	chr14:21669000-21679400	Weak transcription	Aorta	Aorta
19	chr14:21669000-21685800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:21669400-21679800	Weak transcription	Small Intestine	intestine
21	chr14:21669400-21681600	Strong transcription	Left Ventricle	heart
22	chr14:21669400-21685600	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr14:21669800-21676400	Weak transcription	Brain Angular Gyrus	brain
24	chr14:21670000-21679600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:21670000-21681600	Strong transcription	Fetal Muscle Leg	muscle
26	chr14:21670200-21673200	Enhancers	HepG2	liver
27	chr14:21670200-21683600	Strong transcription	Fetal Thymus	thymus
28	chr14:21670200-21684200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:21670200-21684600	Strong transcription	NHLF	lung
30	chr14:21670200-21685000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:21670200-21685400	Strong transcription	HSMM	muscle
32	chr14:21670200-21685400	Strong transcription	NH-A	brain
33	chr14:21670200-21685400	Strong transcription	Osteobl	bone
34	chr14:21670400-21673600	Weak transcription	Fetal Heart	heart
35	chr14:21670400-21676800	Weak transcription	Esophagus	oesophagus
36	chr14:21670400-21679400	Weak transcription	Fetal Intestine Small	intestine
37	chr14:21670400-21697600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:21670600-21674200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr14:21670600-21674200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:21670600-21676800	Weak transcription	Pancreas	Pancrea
41	chr14:21670600-21683400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:21670800-21682400	Strong transcription	A549	lung
43	chr14:21670800-21684800	Strong transcription	HSMMtube	muscle
44	chr14:21670800-21685000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:21670800-21687400	Strong transcription	Fetal Brain Female	brain
46	chr14:21670800-21702400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr14:21671000-21673800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:21671000-21676800	Weak transcription	Stomach Mucosa	stomach
49	chr14:21671200-21674600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr14:21671200-21676800	Strong transcription	GM12878-XiMat	blood

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