Variant report

Variant	rs12879877
Chromosome Location	chr14:68139098-68139099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68083805..68088096-chr14:68136243..68139181,3	MCF-7	breast:
2	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:
3	chr14:68137167..68140081-chr14:68140681..68143244,3	K562	blood:
4	chr14:68132675..68135592-chr14:68137064..68139756,3	K562	blood:
5	chr14:68051111..68055342-chr14:68135625..68139936,6	K562	blood:

Variant related genes	Relation type
ENSG00000072042	Chromatin interaction
ENSG00000054690	Chromatin interaction
ENSG00000081181	Chromatin interaction
ENSG00000258466	Chromatin interaction
ENSG00000201529	Chromatin interaction
ENSG00000100568	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1007283	0.83[ASN][1000 genomes]
rs12147055	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12147616	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12880440	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12881351	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12881994	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12882315	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12882423	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12882561	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12882897	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12884644	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12884764	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12884807	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12886140	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12887092	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12888119	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12889011	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12889276	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12889527	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12890397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12892204	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12892919	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12893115	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12893900	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12893907	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12894707	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895014	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12895217	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12896052	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12898042	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17249649	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2273160	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34970739	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3759762	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59922989	0.85[AFR][1000 genomes]
rs60782801	0.85[AFR][1000 genomes]
rs7147925	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8007557	0.90[EUR][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	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68117000-68139400	Weak transcription	Psoas Muscle	Psoas
2	chr14:68119400-68140400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:68123800-68139400	Weak transcription	Fetal Brain Male	brain
4	chr14:68124000-68139600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:68124000-68140200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr14:68124000-68140200	Weak transcription	Right Ventricle	heart
7	chr14:68124200-68139400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:68124400-68139400	Weak transcription	Aorta	Aorta
9	chr14:68124400-68139400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:68124400-68139400	Weak transcription	Spleen	Spleen
11	chr14:68124400-68139600	Weak transcription	Colonic Mucosa	Colon
12	chr14:68124400-68140400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:68124400-68140800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:68124800-68139200	Weak transcription	Lung	lung
15	chr14:68125000-68139600	Weak transcription	HUVEC	blood vessel
16	chr14:68125800-68140200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:68126000-68139400	Weak transcription	Fetal Brain Female	brain
18	chr14:68126600-68139400	Weak transcription	Fetal Lung	lung
19	chr14:68126600-68139400	Weak transcription	Hela-S3	cervix
20	chr14:68126600-68140000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:68126800-68139600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:68126800-68140400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:68127000-68139400	Weak transcription	NH-A	brain
24	chr14:68127200-68139400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:68127200-68139400	Weak transcription	HSMMtube	muscle
26	chr14:68127400-68139600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:68127800-68139400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:68127800-68140200	Weak transcription	A549	lung
29	chr14:68128600-68140000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr14:68128800-68139400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:68129400-68139400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:68129400-68139400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:68129600-68139800	Weak transcription	Placenta	Placenta
34	chr14:68130000-68139400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:68130000-68139600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:68132200-68139400	Weak transcription	Fetal Stomach	stomach
37	chr14:68133000-68139400	Weak transcription	HMEC	breast
38	chr14:68133000-68140200	Weak transcription	HSMM	muscle
39	chr14:68133200-68139400	Weak transcription	NHEK	skin
40	chr14:68133800-68139200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:68133800-68139400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:68133800-68139400	Weak transcription	Fetal Muscle Leg	muscle
43	chr14:68134000-68139200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:68134000-68139200	Weak transcription	Thymus	Thymus
45	chr14:68134000-68139400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:68134000-68139400	Weak transcription	Primary T cells from cord blood	blood
47	chr14:68134000-68139400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr14:68134000-68139400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:68134000-68139400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr14:68134000-68139400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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