Variant report

Variant	rs2498807
Chromosome Location	chr14:105284772-105284773
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr14:105284287-105284783	K562	blood:	n/a	n/a
2	POLR2A	chr14:105284478-105284906	K562	blood:	n/a	n/a
3	POLR2A	chr14:105283941-105288196	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105283173..105285721-chr14:105343365..105345271,2	K562	blood:
2	chr14:105217398..105221846-chr14:105284355..105288810,4	MCF-7	breast:
3	chr14:105269532..105276799-chr14:105278912..105285805,20	K562	blood:
4	chr14:105284603..105287527-chr14:105343615..105347092,3	MCF-7	breast:
5	chr14:105262687..105269353-chr14:105280701..105285854,11	K562	blood:
6	chr14:105284508..105286639-chr14:105398983..105401312,2	MCF-7	breast:
7	chr14:105177553..105179620-chr14:105284148..105286152,2	K562	blood:
8	chr14:105259095..105269353-chr14:105280422..105289302,26	K562	blood:
9	chr14:105234439..105237924-chr14:105282757..105285327,3	K562	blood:
10	chr14:105115276..105117715-chr14:105282961..105284901,2	MCF-7	breast:
11	chr14:105282552..105286026-chr14:105289483..105293569,5	K562	blood:
12	chr14:105279760..105281975-chr14:105284516..105287260,2	K562	blood:

No data

Variant related genes	Relation type
LINC00638	TF binding region
ENSG00000258430	Chromatin interaction
ENSG00000184990	Chromatin interaction
ENSG00000142208	Chromatin interaction
ENSG00000179627	Chromatin interaction
ENSG00000203485	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10130338	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10134757	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10138512	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10139525	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142116	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149533	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12050408	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12435909	0.81[AMR][1000 genomes]
rs12894160	0.93[ASN][1000 genomes]
rs2498778	0.99[ASN][1000 genomes]
rs2498779	0.99[ASN][1000 genomes]
rs2498808	1.00[ASN][1000 genomes]
rs2498809	0.99[ASN][1000 genomes]
rs2498810	0.97[ASN][1000 genomes]
rs3002452	1.00[ASN][1000 genomes]
rs35914118	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4264330	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4264331	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8181961	0.91[AMR][1000 genomes];0.83[EUR][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
rs2498807	LINC00638	cis	lung	GTEx
rs2498807	LINC00638	cis	Whole Blood	GTEx
rs2498807	LINC00638	cis	Esophagus Muscularis	GTEx
rs2498807	LINC00638	cis	Artery Aorta	GTEx
rs2498807	LINC00638	cis	Thyroid	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105283200-105287000	Weak transcription	Esophagus	oesophagus
2	chr14:105283200-105292200	Weak transcription	Gastric	stomach
3	chr14:105283400-105284800	Weak transcription	Fetal Intestine Large	intestine
4	chr14:105283400-105285000	Weak transcription	Lung	lung
5	chr14:105283400-105286800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr14:105283400-105286800	Weak transcription	HSMMtube	muscle
7	chr14:105283400-105286800	Weak transcription	HUVEC	blood vessel
8	chr14:105283400-105286800	Weak transcription	NH-A	brain
9	chr14:105283400-105287000	Weak transcription	Ovary	ovary
10	chr14:105283400-105287000	Weak transcription	Right Ventricle	heart
11	chr14:105283400-105287000	Weak transcription	NHLF	lung
12	chr14:105283400-105287200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr14:105283400-105287200	Weak transcription	Brain Anterior Caudate	brain
14	chr14:105283400-105287200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:105283400-105287200	Weak transcription	Stomach Mucosa	stomach
16	chr14:105283400-105287400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:105283400-105287400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:105283400-105292000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr14:105283400-105292000	Weak transcription	Right Atrium	heart
20	chr14:105283600-105284800	Weak transcription	NHDF-Ad	bronchial
21	chr14:105283600-105285800	Weak transcription	Fetal Thymus	thymus
22	chr14:105283600-105286600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:105283600-105286800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:105283600-105286800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:105283600-105286800	Weak transcription	HMEC	breast
26	chr14:105283600-105287000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:105283600-105287000	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:105283600-105287000	Weak transcription	NHEK	skin
29	chr14:105283600-105287200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:105283600-105287200	Weak transcription	Colonic Mucosa	Colon
31	chr14:105283600-105287200	Weak transcription	Fetal Brain Male	brain
32	chr14:105283600-105287600	Weak transcription	Brain Angular Gyrus	brain
33	chr14:105283600-105288800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:105283600-105292000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr14:105283600-105292000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:105283800-105286800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:105283800-105287000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:105283800-105287000	Weak transcription	HSMM	muscle
39	chr14:105283800-105292000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:105283800-105292200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr14:105284000-105285200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
42	chr14:105284000-105286800	Weak transcription	Liver	Liver
43	chr14:105284000-105287000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:105284000-105287000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:105284000-105287000	Weak transcription	Placenta	Placenta
46	chr14:105284000-105287000	Weak transcription	Left Ventricle	heart
47	chr14:105284000-105287000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr14:105284000-105287400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:105284000-105288000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:105284000-105288800	Weak transcription	Spleen	Spleen

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