Variant report

Variant	rs7143744
Chromosome Location	chr14:81404742-81404743
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81401530..81405637-chr14:81405681..81409826,5	K562	blood:

Variant related genes	Relation type
ENSG00000100629	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10136404	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1016507	0.81[EUR][1000 genomes]
rs1016699	0.84[AFR][1000 genomes]
rs1025253	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11623416	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11627019	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11627929	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12050416	0.83[AFR][1000 genomes]
rs12434564	0.81[EUR][1000 genomes]
rs12888082	0.81[EUR][1000 genomes]
rs12892825	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12895801	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1458993	0.81[EUR][1000 genomes]
rs17111270	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs172920	0.83[EUR][1000 genomes]
rs17542615	0.81[EUR][1000 genomes]
rs1797670	0.80[EUR][1000 genomes]
rs2044737	0.85[EUR][1000 genomes]
rs2114703	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2162548	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2217174	0.82[EUR][1000 genomes]
rs2217176	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228110	0.81[EUR][1000 genomes]
rs228111	0.82[EUR][1000 genomes]
rs228118	0.83[EUR][1000 genomes]
rs228120	0.83[EUR][1000 genomes]
rs228121	0.83[EUR][1000 genomes]
rs228125	0.83[EUR][1000 genomes]
rs2371457	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2371462	0.82[EUR][1000 genomes]
rs2556601	0.82[EUR][1000 genomes]
rs2556605	0.82[EUR][1000 genomes]
rs2888046	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35540104	0.81[EUR][1000 genomes]
rs3742721	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742722	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4899781	0.82[AFR][1000 genomes]
rs4899782	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4899783	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903948	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4903954	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6574611	0.81[AFR][1000 genomes]
rs6574613	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67065081	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7143407	0.81[EUR][1000 genomes]
rs7153979	0.84[EUR][1000 genomes]
rs7154132	0.84[EUR][1000 genomes]
rs7154373	0.84[EUR][1000 genomes]
rs7157845	0.82[AFR][1000 genomes]
rs722906	0.82[AFR][1000 genomes]
rs728444	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs759916	0.82[EUR][1000 genomes]
rs759917	0.81[EUR][1000 genomes]
rs8003784	0.81[EUR][1000 genomes]
rs8005883	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8006507	0.81[EUR][1000 genomes]
rs8009120	0.82[EUR][1000 genomes]
rs8009260	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8016507	0.85[AFR][1000 genomes]
rs8021137	0.81[EUR][1000 genomes]
rs8022411	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS 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	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81359400-81406000	Weak transcription	A549	lung
2	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:81375400-81407600	Weak transcription	Gastric	stomach
4	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:81382600-81406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:81387800-81407200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:81390000-81405000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:81390000-81407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:81392200-81407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:81392400-81406600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:81392600-81407200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:81392600-81407200	Weak transcription	Fetal Stomach	stomach
13	chr14:81392800-81407400	Weak transcription	Esophagus	oesophagus
14	chr14:81393000-81407600	Weak transcription	Lung	lung
15	chr14:81393600-81407200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:81394000-81407400	Weak transcription	Left Ventricle	heart
17	chr14:81395000-81407400	Weak transcription	Fetal Intestine Large	intestine
18	chr14:81396400-81407600	Weak transcription	Aorta	Aorta
19	chr14:81397400-81407200	Weak transcription	Ovary	ovary
20	chr14:81398000-81407200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:81398000-81407200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:81398000-81407200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:81398200-81406600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:81398200-81407000	Weak transcription	Primary T cells from cord blood	blood
25	chr14:81398200-81407200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:81398200-81407400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:81398400-81406000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:81398400-81406800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:81398600-81406400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:81398800-81406200	Genic enhancers	Dnd41	blood
31	chr14:81398800-81406600	Weak transcription	HMEC	breast
32	chr14:81398800-81407200	Weak transcription	Primary B cells from cord blood	blood
33	chr14:81399000-81406400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:81399000-81406400	Weak transcription	GM12878-XiMat	blood
35	chr14:81399400-81406000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr14:81399800-81404800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:81400000-81406400	Weak transcription	K562	blood
38	chr14:81400400-81405200	Weak transcription	HSMM	muscle
39	chr14:81400600-81407200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr14:81400800-81405000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:81400800-81406000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:81400800-81406600	Weak transcription	Fetal Heart	heart
43	chr14:81400800-81407200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:81401000-81407200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr14:81401000-81407400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:81401200-81406400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:81401200-81406600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:81401200-81407200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr14:81401400-81405200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:81402400-81407200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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