Variant report

Variant	rs559489078
Chromosome Location	chr14:103986856-103986857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:103587793..103589963-chr14:103986359..103988722,2	K562	blood:
2	chr14:103986778..103989691-chr14:104095238..104098302,4	K562	blood:
3	chr14:103985364..103989946-chr14:104026445..104030227,8	MCF-7	breast:
4	chr14:103963760..103966397-chr14:103985638..103989760,5	K562	blood:
5	chr14:103983696..103988397-chr14:104026059..104029809,6	K562	blood:

Variant related genes	Relation type
ENSG00000075413	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000185215	Chromatin interaction
ENSG00000166170	Chromatin interaction
ENSG00000259717	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription 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 target site	125 gene(s)	inside rSNPs	diseases
2	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	esv1835815	chr14:103942991-103989757	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
5	nsv1044967	chr14:103954727-104007051	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	esv1807091	chr14:103956182-104020454	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv1835824	chr14:103956182-104020454	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1818859	chr14:103967299-103989757	Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
11	esv1833254	chr14:103967299-103989757	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
12	esv1835374	chr14:103967299-103989757	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
13	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS 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	43 gene(s)	inside rSNPs	diseases
14	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
15	esv1834605	chr14:103969909-104003091	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv902301	chr14:103979953-104003094	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	esv1850440	chr14:103979953-104007555	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
18	nsv902302	chr14:103979953-104018455	Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
19	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
20	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
21	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
22	nsv827068	chr14:103982866-104021347	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
23	nsv902306	chr14:103984294-104003094	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
24	esv1835145	chr14:103984294-104014935	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
25	nsv565987	chr14:103986155-103988707	Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
26	nsv902307	chr14:103986155-104003094	Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
27	esv1824096	chr14:103986255-103999371	Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
28	esv1842368	chr14:103986255-103999371	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
29	nsv565988	chr14:103986456-103988444	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
30	nsv565989	chr14:103986457-103989655	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
31	nsv565990	chr14:103986457-103989757	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
32	nsv565991	chr14:103986805-103988650	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
33	nsv565992	chr14:103986805-103989655	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
34	nsv565993	chr14:103986805-103989757	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
35	esv3340255	chr14:103986824-103989372	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103971600-103987000	Weak transcription	Small Intestine	intestine
2	chr14:103972000-103987000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:103977000-103987000	Weak transcription	Dnd41	blood
4	chr14:103980000-103987200	Weak transcription	Aorta	Aorta
5	chr14:103980000-103988400	Weak transcription	Fetal Kidney	kidney
6	chr14:103980200-103987000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:103980200-103987000	Weak transcription	HSMM	muscle
8	chr14:103980400-103987200	Weak transcription	HSMMtube	muscle
9	chr14:103982600-103987400	Enhancers	Fetal Heart	heart
10	chr14:103982800-103987600	Enhancers	Fetal Brain Male	brain
11	chr14:103983000-103987600	Enhancers	Fetal Lung	lung
12	chr14:103983400-103987000	Enhancers	HMEC	breast
13	chr14:103983400-103987400	Enhancers	Spleen	Spleen
14	chr14:103983600-103987000	Enhancers	Pancreas	Pancrea
15	chr14:103983800-103987000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr14:103984000-103987000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:103984000-103987200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr14:103984200-103987000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:103984200-103987200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:103984200-103987200	Enhancers	Stomach Mucosa	stomach
21	chr14:103984200-103987200	Enhancers	NH-A	brain
22	chr14:103984400-103987000	Enhancers	Adipose Nuclei	Adipose
23	chr14:103984400-103987000	Enhancers	Duodenum Mucosa	Duodenum
24	chr14:103984400-103987000	Enhancers	Esophagus	oesophagus
25	chr14:103984400-103987200	Enhancers	Liver	Liver
26	chr14:103984400-103987200	Genic enhancers	NHLF	lung
27	chr14:103984600-103987000	Enhancers	Primary hematopoietic stem cells	blood
28	chr14:103984600-103987200	Enhancers	Lung	lung
29	chr14:103984800-103987000	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr14:103984800-103987000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr14:103985000-103987000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr14:103985000-103987000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr14:103985000-103987000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:103985000-103987200	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
35	chr14:103985200-103987000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:103985200-103987000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:103985200-103987000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr14:103985200-103987200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr14:103985200-103987600	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
40	chr14:103985200-103988000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:103985400-103987000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr14:103985400-103987000	Genic enhancers	H1 Cell Line	embryonic stem cell
43	chr14:103985400-103987000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr14:103985400-103987000	Genic enhancers	Right Ventricle	heart
45	chr14:103985400-103987000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
46	chr14:103985400-103987600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
47	chr14:103985400-103987800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
48	chr14:103985600-103987000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:103985600-103987000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:103985600-103987000	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon

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