Variant report

Variant	rs551326309
Chromosome Location	chr14:105486735-105486736
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105448840..105458160-chr14:105477229..105492100,32	MCF-7	breast:
2	chr14:105433505..105435724-chr14:105485407..105487302,3	MCF-7	breast:
3	chr14:91719454..91721196-chr14:105485450..105487377,2	MCF-7	breast:
4	chr14:105486497..105489125-chr17:57923024..57925819,2	MCF-7	breast:
5	chr14:105436785..105438892-chr14:105486187..105488298,2	MCF-7	breast:
6	chr1:32478407..32481120-chr14:105486396..105489029,2	MCF-7	breast:
7	chr11:61099687..61101832-chr14:105486537..105488632,2	MCF-7	breast:
8	chr14:105440890..105445623-chr14:105485614..105489562,6	MCF-7	breast:
9	chr14:105452399..105454972-chr14:105485871..105488403,3	K562	blood:
10	chr14:105486634..105487135-chr2:241499645..241500593,2	Hela-S3	cervix:
11	chr14:105444693..105446444-chr14:105485592..105488194,3	K562	blood:
12	chr14:105433937..105458439-chr14:105476653..105492775,70	MCF-7	breast:
13	chr14:105359659..105361508-chr14:105484328..105487117,2	MCF-7	breast:
14	chr14:105485865..105488702-chr14:105521834..105523359,2	K562	blood:
15	chr14:105331438..105333394-chr14:105486290..105488258,2	MCF-7	breast:
16	chr14:105329781..105332832-chr14:105486734..105489071,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183484	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000119714	Chromatin interaction
ENSG00000167986	Chromatin interaction
ENSG00000144504	Chromatin interaction
ENSG00000149476	Chromatin interaction
ENSG00000188542	Chromatin interaction
ENSG00000185567	Chromatin interaction
ENSG00000121774	Chromatin interaction
ENSG00000099814	Chromatin interaction
ENSG00000140104	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv902419	chr14:105381763-105494262	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers 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 target site	59 gene(s)	inside rSNPs	diseases
6	nsv456457	chr14:105404384-105555396	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv566141	chr14:105404384-105555396	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv902420	chr14:105410183-105494262	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	nsv902421	chr14:105410183-105574843	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer 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	73 gene(s)	inside rSNPs	diseases
10	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
11	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
13	nsv1042303	chr14:105435649-105633544	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
14	nsv456458	chr14:105435649-105690092	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv566150	chr14:105435649-105690092	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS 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	86 gene(s)	inside rSNPs	diseases
17	nsv566151	chr14:105459140-105555396	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Strong transcription 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
18	nsv456459	chr14:105459140-105617891	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
19	nsv566152	chr14:105459140-105617891	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
20	nsv902425	chr14:105463936-105690092	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
21	nsv983941	chr14:105485574-105534240	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
22	esv3421474	chr14:105485932-105488480	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	32 gene(s)	inside rSNPs	diseases
23	esv3437595	chr14:105486432-105489280	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	32 gene(s)	inside rSNPs	diseases
24	esv3416622	chr14:105486557-105488955	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105484000-105487200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr14:105484200-105486800	Transcr. at gene 5' and 3'	NHEK	skin
3	chr14:105484400-105486800	Transcr. at gene 5' and 3'	A549	lung
4	chr14:105485400-105486800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr14:105485400-105486800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr14:105485400-105486800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:105485400-105486800	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr14:105485400-105486800	Flanking Active TSS	Fetal Brain Female	brain
9	chr14:105485400-105486800	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr14:105485400-105486800	Flanking Active TSS	NH-A	brain
11	chr14:105485400-105487000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr14:105485400-105487000	Active TSS	Fetal Kidney	kidney
13	chr14:105485400-105487200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:105485600-105486800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:105485600-105486800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:105485600-105486800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr14:105485600-105486800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:105485600-105486800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr14:105485600-105487200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:105485800-105486800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:105485800-105486800	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr14:105485800-105486800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr14:105485800-105486800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr14:105485800-105486800	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr14:105485800-105487000	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr14:105485800-105488000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:105485800-105488000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:105485800-105488200	Active TSS	Colonic Mucosa	Colon
29	chr14:105485800-105488200	Active TSS	Esophagus	oesophagus
30	chr14:105485800-105488800	Active TSS	H1 Cell Line	embryonic stem cell
31	chr14:105485800-105489000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:105486000-105486800	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr14:105486000-105486800	Flanking Active TSS	Fetal Brain Male	brain
34	chr14:105486000-105486800	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr14:105486000-105486800	Flanking Active TSS	Fetal Stomach	stomach
36	chr14:105486000-105488000	Active TSS	Placenta Amnion	Placenta Amnion
37	chr14:105486000-105488000	Active TSS	HMEC	breast
38	chr14:105486000-105488200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:105486000-105488600	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr14:105486000-105488800	Active TSS	H9 Cell Line	embryonic stem cell
41	chr14:105486000-105488800	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr14:105486000-105488800	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr14:105486000-105489000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:105486000-105489000	Active TSS	GM12878-XiMat	blood
45	chr14:105486200-105486800	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr14:105486200-105486800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr14:105486200-105486800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:105486200-105486800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr14:105486200-105486800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr14:105486200-105486800	Flanking Active TSS	Placenta	Placenta

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