Variant report

Variant	rs377100518
Chromosome Location	chr14:105293360-105293361
allele	-/TGGGGGCCCCTGG
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 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	chr14:105292002..105293559-chr14:105403118..105405949,2	MCF-7	breast:
4	chr14:105280954..105282466-chr14:105292119..105293629,2	K562	blood:
5	chr14:105268427..105271161-chr14:105291567..105294333,2	K562	blood:
6	chr14:105291374..105295422-chr14:105328190..105336195,18	MCF-7	breast:
7	chr14:105287225..105290811-chr14:105291462..105294551,5	K562	blood:
8	chr14:105234590..105235623-chr14:105292148..105293402,8	K562	blood:
9	chr14:105292163..105294059-chr14:105311800..105314620,2	K562	blood:
10	chr14:105235443..105237438-chr14:105291289..105294293,4	K562	blood:
11	chr14:105293283..105294221-chr14:105511851..105512622,2	MCF-7	breast:
12	chr14:105292149..105293877-chr14:105432490..105434872,2	MCF-7	breast:
13	chr14:105292878..105295272-chr14:105309126..105311348,2	MCF-7	breast:
14	chr14:105218306..105221418-chr14:105291704..105295058,3	MCF-7	breast:
15	chr14:105214906..105217436-chr14:105291555..105293979,2	K562	blood:
16	chr14:105233810..105238299-chr14:105291361..105295745,6	K562	blood:
17	chr14:105280966..105282808-chr14:105292129..105294295,2	K562	blood:
18	chr14:105234529..105236014-chr14:105292452..105293414,8	MCF-7	breast:
19	chr14:105226070..105227570-chr14:105291620..105294600,2	MCF-7	breast:
20	chr14:105214906..105218911-chr14:105291555..105293979,3	K562	blood:
21	chr14:105292450..105295087-chr14:105329500..105333525,7	MCF-7	breast:
22	chr14:105264645..105268219-chr14:105292165..105294813,6	K562	blood:

No data

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

Extended variants
information (count: 42 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:42 , 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	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
26	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
27	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
28	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
29	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
30	esv3356159	chr14:105292707-105294055	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
31	esv1793916	chr14:105292942-105321643	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
32	esv1825507	chr14:105292942-105321643	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
33	esv17248	chr14:105292966-105293461	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
34	esv2162563	chr14:105293033-105293527	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
35	esv3521558	chr14:105293067-105293479	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
36	esv3521559	chr14:105293081-105293494	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
37	esv3521560	chr14:105293089-105293398	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
38	esv3530753	chr14:105293101-105293433	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
39	esv3530754	chr14:105293105-105293433	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
40	esv3530752	chr14:105293161-105293365	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
41	esv3521562	chr14:105293175-105293364	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
42	esv3530755	chr14:105293175-105293364	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	6 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	chr14:105291800-105294400	Enhancers	Spleen	Spleen
2	chr14:105292000-105293400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:105292000-105293400	Active TSS	NHEK	skin
4	chr14:105292000-105293600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr14:105292000-105293600	Active TSS	A549	lung
6	chr14:105292000-105293800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:105292000-105293800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:105292000-105294000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr14:105292000-105294200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:105292000-105294200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr14:105292000-105294200	Active TSS	Brain Angular Gyrus	brain
12	chr14:105292000-105294400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr14:105292000-105294400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr14:105292200-105293400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:105292200-105293600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:105292200-105293600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr14:105292200-105293600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:105292200-105293600	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr14:105292200-105293800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:105292200-105293800	Active TSS	Brain Substantia Nigra	brain
21	chr14:105292200-105294000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr14:105292200-105294200	Enhancers	Small Intestine	intestine
23	chr14:105292200-105294200	Active TSS	NHDF-Ad	bronchial
24	chr14:105292200-105294400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr14:105292400-105293400	Active TSS	H1 Cell Line	embryonic stem cell
26	chr14:105292400-105293400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:105292400-105293400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:105292400-105293400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:105292400-105293400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:105292400-105293400	Active TSS	Aorta	Aorta
31	chr14:105292400-105293400	Active TSS	Brain Cingulate Gyrus	brain
32	chr14:105292400-105293400	Active TSS	Left Ventricle	heart
33	chr14:105292400-105293400	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr14:105292400-105293400	Active TSS	K562	blood
35	chr14:105292400-105293600	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr14:105292400-105293600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:105292400-105293600	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr14:105292400-105293600	Active TSS	Brain Hippocampus Middle	brain
39	chr14:105292400-105293600	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr14:105292400-105293600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:105292400-105293600	Active TSS	Rectal Smooth Muscle	rectum
42	chr14:105292400-105293600	Active TSS	Right Atrium	heart
43	chr14:105292400-105293600	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr14:105292400-105293600	Active TSS	HepG2	liver
45	chr14:105292400-105293800	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr14:105292400-105293800	Active TSS	Hela-S3	cervix
47	chr14:105292400-105294000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:105292400-105294000	Active TSS	Colon Smooth Muscle	Colon
49	chr14:105292400-105294000	Active TSS	Fetal Kidney	kidney
50	chr14:105292600-105293400	Active TSS	Ovary	ovary

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