Variant report

Variant	rs67183455
Chromosome Location	chr14:105281420-105281421
allele	A/C
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105280921..105283748-chr14:105368977..105371929,2	MCF-7	breast:
2	chr14:105269532..105276799-chr14:105278912..105285805,20	K562	blood:
3	chr14:105280954..105282466-chr14:105292119..105293629,2	K562	blood:
4	chr14:105262687..105269353-chr14:105280701..105285854,11	K562	blood:
5	chr14:105279760..105281975-chr14:105284516..105287260,2	K562	blood:
6	chr14:105281086..105282692-chr14:105433112..105435409,2	MCF-7	breast:
7	chr14:105193547..105195878-chr14:105280692..105283165,3	MCF-7	breast:
8	chr14:104444303..104447278-chr14:105280749..105282624,2	MCF-7	breast:
9	chr14:105281237..105284085-chr14:105486215..105487992,2	MCF-7	breast:
10	chr11:122016442..122016997-chr14:105280970..105281470,2	HCT-116	colon:
11	chr14:105279959..105283279-chr14:105346411..105348850,3	MCF-7	breast:
12	chr14:105196164..105197690-chr14:105281072..105283961,2	MCF-7	breast:
13	chr14:105259095..105269353-chr14:105280422..105289302,26	K562	blood:
14	chr14:105199229..105201973-chr14:105280789..105282414,2	MCF-7	breast:
15	chr14:105279927..105282717-chr14:105396957..105399947,2	K562	blood:
16	chr14:105280960..105282917-chr17:59489026..59491365,2	MCF-7	breast:
17	chr14:105167254..105168944-chr14:105280807..105283484,2	K562	blood:
18	chr14:104094539..104096574-chr14:105280898..105283467,2	MCF-7	breast:
19	chr14:105280966..105282808-chr14:105292129..105294295,2	K562	blood:
20	chr14:105280824..105284770-chr14:105329671..105333393,8	MCF-7	breast:
21	chr14:105153182..105156067-chr14:105281278..105283744,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000187013	Chromatin interaction
ENSG00000179627	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000166428	Chromatin interaction
ENSG00000259067	Chromatin interaction
ENSG00000264439	Chromatin interaction
ENSG00000203485	Chromatin interaction
ENSG00000170779	Chromatin interaction
ENSG00000185100	Chromatin interaction
ENSG00000099814	Chromatin interaction
ENSG00000142208	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12886857	0.95[ASN][1000 genomes]
rs2498782	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66987285	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs67906390	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7144934	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	nsv566092	chr14:105274086-105286331	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
23	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
24	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
25	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs67183455	LINC00638	cis	Esophagus Muscularis	GTEx
rs67183455	LINC00638	cis	lung	GTEx
rs67183455	LINC00638	cis	Whole Blood	GTEx
rs67183455	LINC00638	cis	Thyroid	GTEx
rs67183455	LINC00638	cis	Nerve Tibial	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105268600-105281600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:105272600-105281600	Weak transcription	Ovary	ovary
3	chr14:105279800-105281600	Enhancers	Spleen	Spleen
4	chr14:105280200-105281600	Enhancers	Primary B cells from peripheral blood	blood
5	chr14:105280200-105281800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:105280400-105281600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr14:105280400-105281600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:105280600-105282000	Enhancers	Fetal Heart	heart
9	chr14:105280800-105281600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:105280800-105281600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr14:105280800-105281600	Enhancers	Primary B cells from cord blood	blood
12	chr14:105280800-105281600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr14:105280800-105281800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:105280800-105281800	Flanking Active TSS	Dnd41	blood
15	chr14:105281000-105281600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:105281000-105281600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:105281000-105281600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:105281000-105281600	Enhancers	Brain Substantia Nigra	brain
19	chr14:105281000-105281800	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr14:105281000-105282000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr14:105281000-105282400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:105281000-105283400	Active TSS	GM12878-XiMat	blood
23	chr14:105281200-105281600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:105281200-105281600	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr14:105281200-105281600	Enhancers	Primary hematopoietic stem cells	blood
26	chr14:105281200-105281600	Weak transcription	Left Ventricle	heart
27	chr14:105281200-105281800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:105281200-105282000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr14:105281200-105282000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr14:105281200-105282000	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr14:105281200-105282000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr14:105281200-105282400	Active TSS	Right Atrium	heart
33	chr14:105281200-105282600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:105281200-105283000	Active TSS	Fetal Brain Female	brain
35	chr14:105281200-105283600	Active TSS	K562	blood
36	chr14:105281200-105283800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:105281200-105283800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:105281400-105281600	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr14:105281400-105281600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:105281400-105281600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr14:105281400-105281600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr14:105281400-105281600	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr14:105281400-105281600	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr14:105281400-105281600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr14:105281400-105281600	Weak transcription	Fetal Brain Male	brain
46	chr14:105281400-105281600	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr14:105281400-105281600	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr14:105281400-105281600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr14:105281400-105281600	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr14:105281400-105281600	Active TSS	Skeletal Muscle Male	skeletal muscle

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