Variant report

Variant	rs56384435
Chromosome Location	chr14:104362988-104362989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104321174..104323261-chr14:104360889..104363923,3	MCF-7	breast:
2	chr14:104311399..104315345-chr14:104362414..104366566,6	MCF-7	breast:
3	chr14:104272756..104274930-chr14:104362407..104364169,2	K562	blood:
4	chr14:104343466..104345327-chr14:104362441..104364606,2	K562	blood:
5	chr14:104362395..104363093-chr16:28332093..28332593,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000258735	Chromatin interaction
ENSG00000088808	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	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised 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	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
8	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1053305	chr14:104326137-104372608	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv542205	chr14:104326137-104372608	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv542206	chr14:104326137-104377507	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1042792	chr14:104326137-104384260	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv542207	chr14:104326137-104384260	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	esv997353	chr14:104361980-104363168	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3333191	chr14:104362552-104363417	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3386538	chr14:104362863-104363261	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv3449341	chr14:104362871-104363112	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv3445567	chr14:104362877-104363085	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104356800-104364000	Weak transcription	HMEC	breast
2	chr14:104357800-104363000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr14:104357800-104363400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:104360000-104363000	Enhancers	Duodenum Mucosa	Duodenum
5	chr14:104360000-104363000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr14:104360000-104363000	Enhancers	HepG2	liver
7	chr14:104360400-104363400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr14:104361200-104363000	Weak transcription	Left Ventricle	heart
9	chr14:104362400-104363200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:104362600-104363000	Enhancers	Liver	Liver
11	chr14:104362600-104363200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr14:104362600-104363200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:104362600-104365800	Enhancers	Fetal Intestine Small	intestine
14	chr14:104362600-104366000	Enhancers	Fetal Intestine Large	intestine
15	chr14:104362800-104363000	Active TSS	Spleen	Spleen
16	chr14:104362800-104363200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr14:104362800-104363200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr14:104362800-104363200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:104362800-104363200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
20	chr14:104362800-104363200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr14:104362800-104363200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:104362800-104363200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:104362800-104363200	ZNF genes & repeats	Brain Substantia Nigra	brain
24	chr14:104362800-104363200	Flanking Active TSS	Colonic Mucosa	Colon
25	chr14:104362800-104363200	ZNF genes & repeats	Fetal Kidney	kidney
26	chr14:104362800-104363200	ZNF genes & repeats	Fetal Lung	lung
27	chr14:104362800-104363200	ZNF genes & repeats	Lung	lung
28	chr14:104362800-104363200	Transcr. at gene 5' and 3'	Pancreas	Pancrea
29	chr14:104362800-104363200	Active TSS	Rectal Smooth Muscle	rectum
30	chr14:104362800-104363200	Enhancers	Small Intestine	intestine
31	chr14:104362800-104363200	Flanking Active TSS	Stomach Mucosa	stomach
32	chr14:104362800-104363200	ZNF genes & repeats	NHEK	skin
33	chr14:104362800-104363400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr14:104362800-104363600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:104362800-104364800	Enhancers	Right Ventricle	heart
36	chr14:104362800-104365400	Enhancers	Gastric	stomach
37	chr14:104362800-104366600	Enhancers	Esophagus	oesophagus

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