Variant report

Variant	rs12879105
Chromosome Location	chr14:68214788-68214789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:68214742-68214792	NT2-D1	testis:	n/a
2	chr14:68214742-68214792	GM06990	blood:	n/a
3	chr14:68214742-68214792	A549	lung:	n/a
4	chr14:68214742-68214792	H1-hESC	embryonic stem cell:	embryo
5	chr14:68214742-68214792	MCF10A-Er-Src	breast:	n/a
6	chr14:68214742-68214792	U87	brain:	n/a
7	chr14:68214742-68214792	HCPEpiC	choroid plexus:	n/a
8	chr14:68214742-68214792	HIPEpiC	eye:	n/a
9	chr14:68214742-68214792	MCF-7	breast:	n/a
10	chr14:68214742-68214792	HPAEpiC	pulmonary alveolar:	n/a
11	chr14:68214742-68214792	NHBE	bronchial:	n/a
12	chr14:68214742-68214792	HEEpiC	esophagus:	n/a
13	chr14:68214742-68214792	NH-A	brain:	n/a
14	chr14:68214742-68214792	AG04450	lung:	fetal
15	chr14:68214742-68214792	HL-60	blood:	n/a
16	chr14:68214742-68214792	HCT-116	colon:	n/a
17	chr14:68214742-68214792	IMR90	lung:	fetal
18	chr14:68214742-68214792	K562	blood:	n/a
19	chr14:68214742-68214792	GM12892	blood:	n/a
20	chr14:68214742-68214792	HRPEpiC	eye:	n/a
21	chr14:68214742-68214792	GM12878	blood:	n/a
22	chr14:68214742-68214792	HAEpiC	amniotic membrane:	n/a
23	chr14:68214742-68214792	ovcar-3	ovarian:	n/a
24	chr14:68214742-68214792	Hepatocyte	liver:	n/a
25	chr14:68214742-68214792	Caco-2	colon:	n/a
26	chr14:68214742-68214792	PANC-1	pancreas:	n/a
27	chr14:68214742-68214792	NB4	blood:	n/a
28	chr14:68214742-68214792	HRCEpiC	kidney:	n/a
29	chr14:68214742-68214792	Hela-S3	cervix:	n/a
30	chr14:68214742-68214792	HCF	heart:	n/a
31	chr14:68214742-68214792	NHDF-neo	bronchial:	n/a
32	chr14:68214742-68214792	HUVEC	blood vessel:	n/a
33	chr14:68214742-68214792	Jurkat	blood:	n/a
34	chr14:68214742-68214792	GM12891	blood:	n/a
35	chr14:68214742-68214792	ProgFib	skin:	n/a
36	chr14:68214742-68214792	AoSMC	blood vessel:	n/a
37	chr14:68214742-68214792	AG09319	gingival:	n/a
38	chr14:68214742-68214792	BE2_C	brain:	n/a
39	chr14:68214742-68214792	CMK	blood:	n/a
40	chr14:68214742-68214792	AG09309	skin:	n/a
41	chr14:68214742-68214792	HRE	kidney:	n/a
42	chr14:68214742-68214792	T-47D	breast:	n/a
43	chr14:68214742-68214792	PrEC	prostate:	n/a
44	chr14:68214742-68214792	SK-N-MC	brain:	n/a
45	chr14:68214742-68214792	HepG2	liver:	n/a
46	chr14:68214742-68214792	SK-N-SH_RA	brain:	n/a
47	chr14:68214742-68214792	HNPCEpiC	eye:	n/a
48	chr14:68214742-68214792	SKMC	muscle:	n/a
49	chr14:68214742-68214792	RPTEC	kidney:	n/a
50	chr14:68214742-68214792	AG10803	skin:	n/a

No data

Variant related genes	Relation type
ENSG00000252792	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1044126	0.93[EUR][1000 genomes]
rs10782455	0.80[ASN][1000 genomes]
rs11158687	0.88[EUR][1000 genomes]
rs11158688	0.85[EUR][1000 genomes]
rs11158691	0.86[ASN][1000 genomes]
rs11158692	0.84[ASN][1000 genomes]
rs11622772	0.86[ASN][1000 genomes]
rs11849620	0.87[EUR][1000 genomes]
rs12433998	0.81[ASN][1000 genomes]
rs12435035	0.89[ASN][1000 genomes]
rs12881478	0.80[ASN][1000 genomes]
rs17782775	0.88[EUR][1000 genomes]
rs1955468	0.87[EUR][1000 genomes]
rs2295111	0.87[EUR][1000 genomes]
rs3825726	0.85[ASN][1000 genomes]
rs56233923	0.89[EUR][1000 genomes]
rs61986978	0.88[EUR][1000 genomes]
rs742866	0.91[EUR][1000 genomes]
rs742868	0.91[ASN][1000 genomes]
rs9449	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68189000-68218800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:68196200-68219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:68197200-68214800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:68202800-68215000	Weak transcription	Right Ventricle	heart
5	chr14:68202800-68230800	Weak transcription	Right Atrium	heart
6	chr14:68204000-68219600	Weak transcription	Small Intestine	intestine
7	chr14:68204400-68214800	Weak transcription	Gastric	stomach
8	chr14:68206000-68214800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:68206000-68214800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:68206000-68214800	Weak transcription	Brain Anterior Caudate	brain
11	chr14:68206000-68214800	Weak transcription	Esophagus	oesophagus
12	chr14:68206000-68214800	Weak transcription	HSMMtube	muscle
13	chr14:68206000-68215000	Weak transcription	Colonic Mucosa	Colon
14	chr14:68206000-68216200	Weak transcription	NH-A	brain
15	chr14:68206200-68251000	Weak transcription	K562	blood
16	chr14:68206400-68214800	Weak transcription	HMEC	breast
17	chr14:68206400-68216800	Weak transcription	NHEK	skin
18	chr14:68206600-68215800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr14:68206800-68215000	Weak transcription	Hela-S3	cervix
20	chr14:68206800-68217600	Weak transcription	HepG2	liver
21	chr14:68207000-68214800	Weak transcription	A549	lung
22	chr14:68208000-68214800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:68209800-68214800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:68210800-68217600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr14:68211000-68217200	Weak transcription	Fetal Kidney	kidney
26	chr14:68211200-68214800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:68211400-68214800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:68211400-68218800	Weak transcription	Psoas Muscle	Psoas
29	chr14:68211600-68230800	Weak transcription	Stomach Mucosa	stomach
30	chr14:68211800-68214800	Weak transcription	Fetal Thymus	thymus
31	chr14:68211800-68214800	Weak transcription	Osteobl	bone
32	chr14:68211800-68215200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:68212200-68214800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:68212200-68216000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:68212400-68214800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr14:68212800-68215000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr14:68212800-68222200	Strong transcription	Stomach Smooth Muscle	stomach
39	chr14:68212800-68224000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr14:68212800-68224400	Strong transcription	Brain Hippocampus Middle	brain
41	chr14:68212800-68225400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:68212800-68225400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr14:68212800-68229800	Strong transcription	Fetal Intestine Large	intestine
44	chr14:68213000-68214800	Weak transcription	Fetal Lung	lung
45	chr14:68213000-68214800	Weak transcription	Dnd41	blood
46	chr14:68213000-68216200	Strong transcription	HSMM	muscle
47	chr14:68213000-68218800	Weak transcription	HUVEC	blood vessel
48	chr14:68213000-68225400	Strong transcription	Adipose Nuclei	Adipose
49	chr14:68213000-68225400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr14:68213000-68229800	Strong transcription	Primary monocytes fromperipheralblood	blood

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