Variant report

Variant	rs368343010
Chromosome Location	chr14:21819760-21819761
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21814371..21817924-chr14:21819365..21822480,4	K562	blood:
2	chr14:21727359..21730774-chr14:21816654..21820383,4	K562	blood:
3	chr14:21814821..21817594-chr14:21819098..21821242,4	K562	blood:
4	chr14:21700378..21702346-chr14:21819126..21821504,2	MCF-7	breast:
5	chr14:21788171..21789709-chr14:21819035..21821503,2	K562	blood:

Variant related genes	Relation type
ENSG00000092200	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
13	esv1825348	chr14:21691941-21829404	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
17	nsv428617	chr14:21721165-21871164	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
18	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
19	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
20	nsv933465	chr14:21819353-21821015	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21803600-21820200	Weak transcription	K562	blood
2	chr14:21809200-21819800	Weak transcription	Fetal Intestine Small	intestine
3	chr14:21811600-21820000	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:21811800-21820200	Weak transcription	Gastric	stomach
5	chr14:21815000-21819800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:21815600-21820200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:21816400-21820800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:21817000-21820200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:21817000-21820200	Weak transcription	Pancreas	Pancrea
10	chr14:21817400-21820000	Weak transcription	Fetal Kidney	kidney
11	chr14:21817600-21819800	Weak transcription	Aorta	Aorta
12	chr14:21817600-21819800	Weak transcription	Ovary	ovary
13	chr14:21817600-21820000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:21817600-21820000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:21817600-21820600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:21817600-21822400	Weak transcription	Stomach Mucosa	stomach
17	chr14:21817800-21820200	Weak transcription	Colonic Mucosa	Colon
18	chr14:21817800-21825400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:21818000-21819800	Weak transcription	Right Ventricle	heart
20	chr14:21818000-21820200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:21818000-21843000	Strong transcription	A549	lung
22	chr14:21818000-21848800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:21818000-21849200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:21818200-21819800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:21818200-21819800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:21818200-21819800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:21818200-21841200	Strong transcription	Fetal Brain Female	brain
28	chr14:21818400-21820000	Weak transcription	Esophagus	oesophagus
29	chr14:21818400-21820000	Weak transcription	Small Intestine	intestine
30	chr14:21818400-21820200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:21818600-21820000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:21818600-21820200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr14:21818600-21820200	Weak transcription	Brain Angular Gyrus	brain
34	chr14:21818600-21838800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:21818600-21841000	Strong transcription	HMEC	breast
36	chr14:21818600-21841200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:21818800-21820000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr14:21818800-21820200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr14:21818800-21820200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:21818800-21820200	Strong transcription	GM12878-XiMat	blood
41	chr14:21818800-21820800	Strong transcription	Liver	Liver
42	chr14:21818800-21823200	Strong transcription	Brain Substantia Nigra	brain
43	chr14:21818800-21836600	Strong transcription	Spleen	Spleen
44	chr14:21818800-21838400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr14:21818800-21838600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:21818800-21839600	Strong transcription	Thymus	Thymus
47	chr14:21818800-21840600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr14:21818800-21840800	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr14:21818800-21841000	Strong transcription	Brain Anterior Caudate	brain
50	chr14:21818800-21841200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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