Variant report

Variant	rs10139519
Chromosome Location	chr14:72109270-72109271
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:72064708..72067406-chr14:72108018..72110332,2	K562	blood:
2	chr14:72104934..72106796-chr14:72107368..72110088,2	MCF-7	breast:
3	chr14:72107137..72109592-chr14:72112007..72114588,3	K562	blood:

Variant related genes	Relation type
ENSG00000197555	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10133626	1.00[JPT][hapmap]
rs10135680	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10138557	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1029570	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10483836	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10873246	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11848785	0.85[EUR][1000 genomes]
rs1204995	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1204996	1.00[JPT][hapmap]
rs12433040	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12879243	0.83[EUR][1000 genomes]
rs12880188	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs12880611	0.84[EUR][1000 genomes]
rs12881957	0.81[EUR][1000 genomes]
rs12885344	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12889866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs12892512	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12894016	0.83[EUR][1000 genomes]
rs12896900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12896986	0.84[EUR][1000 genomes]
rs17178206	0.84[EUR][1000 genomes]
rs17178234	0.84[EUR][1000 genomes]
rs17178387	0.82[EUR][1000 genomes]
rs17767499	0.81[EUR][1000 genomes]
rs17767523	0.84[EUR][1000 genomes]
rs17767553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs17767680	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17767686	0.88[EUR][1000 genomes]
rs1859643	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1981588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2108049	0.84[EUR][1000 genomes]
rs2108057	0.88[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs2109276	0.84[EUR][1000 genomes]
rs2190240	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2214836	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2286136	1.00[JPT][hapmap]
rs2332638	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2332640	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2332641	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2877729	0.83[EUR][1000 genomes]
rs28859432	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs33994051	0.84[EUR][1000 genomes]
rs34169215	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34176710	0.82[EUR][1000 genomes]
rs34281934	0.82[EUR][1000 genomes]
rs34320622	0.84[EUR][1000 genomes]
rs34347034	0.84[EUR][1000 genomes]
rs34454371	0.83[EUR][1000 genomes]
rs34469007	0.84[EUR][1000 genomes]
rs34480562	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs34993988	0.81[EUR][1000 genomes]
rs35231795	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs35415083	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs35589413	0.82[EUR][1000 genomes]
rs35613269	0.84[EUR][1000 genomes]
rs35680546	0.82[EUR][1000 genomes]
rs35760654	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs35971049	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36052007	0.82[EUR][1000 genomes]
rs36072220	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs36093218	0.82[EUR][1000 genomes]
rs3784062	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3784064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3784066	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs3825719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4140797	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4319698	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4899398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902938	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4902941	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4902942	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55883127	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs56407721	0.81[EUR][1000 genomes]
rs61989367	0.84[EUR][1000 genomes]
rs61989373	0.84[EUR][1000 genomes]
rs61989374	0.84[EUR][1000 genomes]
rs61989377	0.83[EUR][1000 genomes]
rs61989382	0.82[EUR][1000 genomes]
rs61989383	0.88[EUR][1000 genomes]
rs61989386	0.82[EUR][1000 genomes]
rs61989417	0.93[AFR][1000 genomes]
rs61991250	0.80[EUR][1000 genomes]
rs61991255	0.84[EUR][1000 genomes]
rs6574015	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6574016	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66645707	0.82[EUR][1000 genomes]
rs67489015	0.81[EUR][1000 genomes]
rs7140501	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7142343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7144299	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7144829	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7148679	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7152674	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7154787	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7154841	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7156313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7157241	0.88[EUR][1000 genomes]
rs722633	0.84[EUR][1000 genomes]
rs725673	0.84[EUR][1000 genomes]
rs757850	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8003478	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8006300	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs8008605	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8010616	0.88[EUR][1000 genomes]
rs8013161	0.85[EUR][1000 genomes]
rs8014349	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8017775	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9323561	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9672060	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72073200-72137800	Weak transcription	Esophagus	oesophagus
2	chr14:72073400-72111000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:72082600-72125000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr14:72083000-72111000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:72083600-72118000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:72083600-72128200	Weak transcription	Spleen	Spleen
7	chr14:72083800-72109800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:72084000-72111800	Weak transcription	Thymus	Thymus
9	chr14:72087400-72113400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:72088200-72159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr14:72090000-72124200	Weak transcription	Hela-S3	cervix
12	chr14:72091000-72114000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:72091000-72117000	Weak transcription	Liver	Liver
14	chr14:72091000-72127400	Weak transcription	Pancreas	Pancrea
15	chr14:72091200-72109600	Weak transcription	Brain Anterior Caudate	brain
16	chr14:72091200-72115200	Weak transcription	HepG2	liver
17	chr14:72091600-72109600	Weak transcription	HSMMtube	muscle
18	chr14:72091600-72116800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:72091600-72117000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:72091600-72117200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr14:72097200-72109400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:72099400-72117200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:72099400-72118400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:72099800-72111400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:72100000-72117000	Weak transcription	Dnd41	blood
26	chr14:72100000-72118400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:72101400-72113200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr14:72101600-72117000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr14:72104200-72113800	Weak transcription	Fetal Heart	heart
30	chr14:72104600-72113200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:72105600-72113400	Weak transcription	HMEC	breast
32	chr14:72105800-72113600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:72106000-72113400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:72106000-72117000	Weak transcription	Primary T cells from cord blood	blood
35	chr14:72106000-72117000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:72106000-72125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:72106200-72112000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr14:72107800-72110000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
39	chr14:72108200-72111400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:72108400-72111000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
41	chr14:72108800-72110000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:72108800-72110400	ZNF genes & repeats	Primary B cells from cord blood	blood
43	chr14:72108800-72111000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr14:72108800-72111200	Strong transcription	Osteobl	bone
45	chr14:72109000-72109400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:72109000-72110000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:72109000-72110000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr14:72109000-72110000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:72109200-72116800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr14:72109200-72117000	Weak transcription	Aorta	Aorta

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