Variant report

Variant	rs4140797
Chromosome Location	chr14:72162978-72162979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72153946..72156828-chr14:72162429..72163999,2	K562	blood:
2	chr14:72162902..72165000-chr14:72180965..72183500,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10132111	0.82[AFR][1000 genomes]
rs10133626	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10135680	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10138557	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10139519	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1029570	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10483836	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10873246	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1204995	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1204996	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1204997	0.82[AFR][1000 genomes]
rs12433040	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12880188	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs12880611	0.86[AFR][1000 genomes]
rs12885344	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12889866	0.86[AFR][1000 genomes]
rs12892512	0.82[EUR][1000 genomes]
rs12896900	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12896986	0.86[AFR][1000 genomes]
rs17767680	0.86[AFR][1000 genomes]
rs1859643	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1981588	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2108057	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs2190240	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2214836	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2286135	0.82[ASN][1000 genomes]
rs2286136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2332638	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2332640	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2332641	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34169215	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34320622	0.86[AFR][1000 genomes]
rs34347034	0.86[AFR][1000 genomes]
rs34480562	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35231795	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35415083	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35680546	0.86[AFR][1000 genomes]
rs35760654	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs36072220	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3784062	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3784064	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3784066	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3825719	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4140799	0.82[ASN][1000 genomes]
rs4319698	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4899398	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4902938	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4902941	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4902942	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55883127	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61989373	0.86[AFR][1000 genomes]
rs61989374	0.86[AFR][1000 genomes]
rs61989377	0.86[AFR][1000 genomes]
rs6574015	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6574016	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7140501	0.92[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7142343	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7144299	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7144829	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7148679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154787	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7154841	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7156313	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8003478	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8006300	0.91[CEU][hapmap]
rs8008605	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8014349	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8017775	0.82[EUR][1000 genomes]
rs9323561	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9672060	0.95[CEU][hapmap];1.00[JPT][hapmap]

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	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
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1047559	chr14:72151736-72282151	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72118600-72191400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr14:72128000-72167800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:72129400-72196800	Weak transcription	Right Ventricle	heart
4	chr14:72140000-72165800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:72140600-72176000	Weak transcription	Hela-S3	cervix
6	chr14:72142000-72191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr14:72147800-72185000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr14:72148200-72170000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:72148200-72175800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:72148200-72200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:72148600-72165000	Weak transcription	Fetal Brain Male	brain
12	chr14:72149000-72177800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:72149000-72186200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:72149800-72176000	Weak transcription	Small Intestine	intestine
15	chr14:72151400-72169600	Weak transcription	Fetal Brain Female	brain
16	chr14:72151600-72171800	Weak transcription	Left Ventricle	heart
17	chr14:72151600-72188000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:72151800-72171600	Weak transcription	Colonic Mucosa	Colon
19	chr14:72152200-72165600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:72152400-72168800	Weak transcription	Esophagus	oesophagus
21	chr14:72152400-72171600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:72152800-72165600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:72153000-72165800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:72153000-72175800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:72153200-72175800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:72153600-72168800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:72153800-72165800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:72154400-72168400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:72154400-72169400	Weak transcription	Fetal Heart	heart
30	chr14:72155200-72164800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr14:72155600-72167000	Weak transcription	Placenta	Placenta
32	chr14:72156800-72176000	Weak transcription	HepG2	liver
33	chr14:72157000-72166600	Strong transcription	Primary B cells from cord blood	blood
34	chr14:72157000-72175800	Weak transcription	Fetal Intestine Large	intestine
35	chr14:72158000-72165000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:72158000-72165200	Weak transcription	Fetal Kidney	kidney
37	chr14:72158000-72165600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:72158800-72164200	Enhancers	Brain Hippocampus Middle	brain
39	chr14:72159000-72164200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:72159000-72164800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:72159400-72165400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:72159600-72165400	Weak transcription	Adipose Nuclei	Adipose
43	chr14:72159600-72165400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr14:72159600-72165600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr14:72159600-72172000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:72159800-72163600	Weak transcription	Gastric	stomach
47	chr14:72159800-72165600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:72159800-72165600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:72159800-72165600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:72159800-72165600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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