Variant report

Variant	rs553294015
Chromosome Location	chr14:105292656-105292657
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105282552..105286026-chr14:105289483..105293569,5	K562	blood:
2	chr14:105189826..105192403-chr14:105291424..105294271,3	MCF-7	breast:
3	chr14:105234486..105235367-chr14:105292449..105293276,4	MCF-7	breast:
4	chr14:105290213..105292759-chr8:144821047..144823089,2	MCF-7	breast:
5	chr14:105292002..105293559-chr14:105403118..105405949,2	MCF-7	breast:
6	chr14:105280954..105282466-chr14:105292119..105293629,2	K562	blood:
7	chr14:105268427..105271161-chr14:105291567..105294333,2	K562	blood:
8	chr14:105291374..105295422-chr14:105328190..105336195,18	MCF-7	breast:
9	chr14:105190468..105192484-chr14:105291233..105293061,2	MCF-7	breast:
10	chr14:105287225..105290811-chr14:105291462..105294551,5	K562	blood:
11	chr14:105234590..105235623-chr14:105292148..105293402,8	K562	blood:
12	chr14:105292163..105294059-chr14:105311800..105314620,2	K562	blood:
13	chr14:105235443..105237438-chr14:105291289..105294293,4	K562	blood:
14	chr14:105292149..105293877-chr14:105432490..105434872,2	MCF-7	breast:
15	chr14:105218306..105221418-chr14:105291704..105295058,3	MCF-7	breast:
16	chr14:105214906..105217436-chr14:105291555..105293979,2	K562	blood:
17	chr14:105233810..105238299-chr14:105291361..105295745,6	K562	blood:
18	chr14:105280966..105282808-chr14:105292129..105294295,2	K562	blood:
19	chr14:105234529..105236014-chr14:105292452..105293414,8	MCF-7	breast:
20	chr14:105226070..105227570-chr14:105291620..105294600,2	MCF-7	breast:
21	chr14:105214906..105218911-chr14:105291555..105293979,3	K562	blood:
22	chr14:105292450..105295087-chr14:105329500..105333525,7	MCF-7	breast:
23	chr14:105264645..105268219-chr14:105292165..105294813,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258430	Chromatin interaction
ENSG00000258701	Chromatin interaction
ENSG00000184990	Chromatin interaction
ENSG00000203499	Chromatin interaction
ENSG00000099814	Chromatin interaction
ENSG00000185100	Chromatin interaction
ENSG00000179627	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised 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	98 gene(s)	inside rSNPs	diseases
2	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv2830002	chr14:105078251-105348552	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv902388	chr14:105092479-105311249	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
6	nsv902389	chr14:105092479-105366499	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv470677	chr14:105126354-105348552	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
10	nsv517038	chr14:105146579-105311249	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
11	nsv566057	chr14:105146579-105311249	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer 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	69 gene(s)	inside rSNPs	diseases
12	nsv566060	chr14:105148655-105311249	Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
13	nsv902404	chr14:105148655-105311249	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
14	nsv902405	chr14:105148655-105340643	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv902409	chr14:105154105-105311249	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
16	nsv566063	chr14:105154105-105312935	Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
17	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
18	nsv902412	chr14:105238701-105361934	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
19	esv1836552	chr14:105246686-105348552	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
20	nsv902413	chr14:105246686-105366499	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
21	esv1833474	chr14:105268228-105332154	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
22	nsv566093	chr14:105274093-105321835	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
23	esv1840298	chr14:105274292-105366499	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
24	nsv902416	chr14:105277209-105366499	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
25	esv1803813	chr14:105285159-105293358	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
26	nsv511540	chr14:105285159-105314093	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Active TSS 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	15 gene(s)	inside rSNPs	diseases
27	nsv456456	chr14:105285159-105412541	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
28	nsv566099	chr14:105285159-105412541	Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
29	esv3347022	chr14:105288807-105293305	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
30	esv3390205	chr14:105291932-105294680	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
31	esv3521561	chr14:105292357-105294555	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105291000-105292800	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr14:105291800-105294400	Enhancers	Spleen	Spleen
3	chr14:105292000-105292800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:105292000-105292800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:105292000-105292800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
6	chr14:105292000-105292800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr14:105292000-105292800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:105292000-105292800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr14:105292000-105292800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:105292000-105292800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:105292000-105292800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr14:105292000-105292800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr14:105292000-105292800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:105292000-105292800	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr14:105292000-105292800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
16	chr14:105292000-105292800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
17	chr14:105292000-105292800	Flanking Active TSS	Placenta	Placenta
18	chr14:105292000-105292800	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr14:105292000-105292800	Flanking Active TSS	HMEC	breast
20	chr14:105292000-105292800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr14:105292000-105293400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:105292000-105293400	Active TSS	NHEK	skin
23	chr14:105292000-105293600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr14:105292000-105293600	Active TSS	A549	lung
25	chr14:105292000-105293800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:105292000-105293800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:105292000-105294000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr14:105292000-105294200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:105292000-105294200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr14:105292000-105294200	Active TSS	Brain Angular Gyrus	brain
31	chr14:105292000-105294400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr14:105292000-105294400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr14:105292200-105292800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:105292200-105292800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
35	chr14:105292200-105292800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
36	chr14:105292200-105292800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
37	chr14:105292200-105292800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
38	chr14:105292200-105292800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr14:105292200-105292800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr14:105292200-105292800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:105292200-105292800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:105292200-105292800	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr14:105292200-105292800	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr14:105292200-105292800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
45	chr14:105292200-105292800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
46	chr14:105292200-105292800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr14:105292200-105292800	Flanking Active TSS	Lung	lung
48	chr14:105292200-105292800	Flanking Active TSS	Psoas Muscle	Psoas
49	chr14:105292200-105292800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr14:105292200-105292800	Flanking Bivalent TSS/Enh	Thymus	Thymus

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