Variant report

Variant	rs8013234
Chromosome Location	chr14:68149934-68149935
allele	A/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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68133955..68137188-chr14:68149480..68152660,3	MCF-7	breast:
2	chr14:68141666..68146397-chr14:68146586..68151737,7	K562	blood:
3	chr14:68139314..68147611-chr14:68148827..68154391,14	MCF-7	breast:
4	chr14:68147331..68150030-chr14:68153544..68156182,3	K562	blood:
5	chr14:68138429..68143685-chr14:68149578..68154548,6	K562	blood:
6	chr14:68149599..68152832-chr14:68159516..68162533,4	K562	blood:
7	chr14:68147451..68151816-chr14:68155082..68158211,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VTI1B-1	chr14:68148473-68151133	NONHSAT037464

No data

Variant related genes	Relation type
ENSG00000072042	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000258466	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10483802	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs12100925	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12431676	0.84[GIH][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes]
rs12432546	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12434923	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12435352	1.00[CEU][hapmap];0.91[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12435531	0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12435927	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12436474	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12437263	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12590038	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs15493	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17249563	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17836863	0.80[EUR][1000 genomes]
rs1804799	1.00[CEU][hapmap];0.91[GIH][hapmap];0.93[MEX][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2009590	0.91[GIH][hapmap];0.84[JPT][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes]
rs3759768	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59421018	0.82[AMR][1000 genomes]
rs60851053	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs718213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8010798	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs910315	0.91[GIH][hapmap];0.84[JPT][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	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	chr14:68142000-68157000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68142200-68155200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:68142200-68155400	Weak transcription	Colonic Mucosa	Colon
4	chr14:68142400-68150200	Weak transcription	Fetal Heart	heart
5	chr14:68142400-68151000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:68142400-68151600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:68142400-68151800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:68142400-68151800	Weak transcription	Right Ventricle	heart
9	chr14:68142400-68152000	Weak transcription	Psoas Muscle	Psoas
10	chr14:68142400-68155000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:68142400-68155400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:68142400-68160600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:68142400-68160800	Weak transcription	Right Atrium	heart
14	chr14:68142600-68150200	Weak transcription	Brain Anterior Caudate	brain
15	chr14:68142600-68150200	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:68142600-68151000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:68142600-68151600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr14:68142600-68151800	Weak transcription	Pancreas	Pancrea
19	chr14:68142600-68153000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:68143000-68159600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:68143000-68160200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:68143200-68160600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:68143400-68150400	Strong transcription	Fetal Brain Female	brain
24	chr14:68143400-68159600	Strong transcription	Dnd41	blood
25	chr14:68143400-68160800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:68143600-68159600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:68143800-68159400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:68143800-68159800	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr14:68143800-68160000	Strong transcription	Fetal Thymus	thymus
30	chr14:68143800-68160200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:68144200-68150400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:68144200-68158400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:68144200-68159400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:68144200-68159600	Strong transcription	HepG2	liver
35	chr14:68144200-68159800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr14:68144200-68160000	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr14:68144200-68160000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:68144200-68160000	Strong transcription	Primary T cells from cord blood	blood
39	chr14:68144200-68160200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr14:68144200-68160400	Strong transcription	Fetal Muscle Leg	muscle
41	chr14:68144200-68160800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:68144600-68160600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:68144800-68159800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:68144800-68159800	Strong transcription	Liver	Liver
45	chr14:68145200-68150200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:68145200-68151400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr14:68145200-68151800	Weak transcription	Esophagus	oesophagus
48	chr14:68145200-68151800	Weak transcription	Gastric	stomach
49	chr14:68145200-68151800	Weak transcription	Spleen	Spleen
50	chr14:68145200-68152800	Weak transcription	Ovary	ovary

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