Variant report

Variant	rs6574611
Chromosome Location	chr14:81404019-81404020
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	chr14:81401530..81405637-chr14:81405681..81409826,5	K562	blood:

Variant related genes	Relation type
ENSG00000100629	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10135084	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10135774	0.83[EUR][1000 genomes]
rs10142753	0.82[ASN][1000 genomes]
rs10146348	0.83[EUR][1000 genomes]
rs10146516	0.83[EUR][1000 genomes]
rs10149689	0.83[EUR][1000 genomes]
rs1016699	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11627934	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1197467	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1197474	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12050077	0.83[EUR][1000 genomes]
rs12050278	0.82[EUR][1000 genomes]
rs12050342	0.81[ASN][1000 genomes]
rs12050416	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12433134	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12434318	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12892825	0.82[AFR][1000 genomes]
rs162174	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs170595	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17111237	0.80[ASN][1000 genomes]
rs17111246	0.80[ASN][1000 genomes]
rs17111256	0.80[ASN][1000 genomes]
rs17544072	0.83[EUR][1000 genomes]
rs17615020	0.82[ASN][1000 genomes]
rs17615911	0.82[EUR][1000 genomes]
rs17615941	0.82[EUR][1000 genomes]
rs17626988	0.83[EUR][1000 genomes]
rs1797671	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1863765	0.82[ASN][1000 genomes]
rs2010847	0.82[ASN][1000 genomes]
rs2114703	0.81[AFR][1000 genomes]
rs2114705	0.83[EUR][1000 genomes]
rs2162548	0.81[AFR][1000 genomes]
rs2195103	0.83[EUR][1000 genomes]
rs2217177	0.83[EUR][1000 genomes]
rs2217178	0.83[EUR][1000 genomes]
rs2268451	0.82[EUR][1000 genomes]
rs228109	0.86[ASN][1000 genomes]
rs228119	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs228124	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2371421	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2371456	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2556604	0.90[ASN][1000 genomes]
rs2556607	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2556613	0.82[ASN][1000 genomes]
rs2556615	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2619661	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28850656	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2888032	0.81[ASN][1000 genomes]
rs2888046	0.81[AFR][1000 genomes]
rs327426	0.81[ASN][1000 genomes]
rs327451	0.81[ASN][1000 genomes]
rs327452	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs327454	0.80[ASN][1000 genomes]
rs3742722	0.82[AFR][1000 genomes]
rs4016442	0.80[AFR][1000 genomes]
rs4899779	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899780	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899781	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903944	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4903947	0.83[ASN][1000 genomes]
rs4903949	0.84[ASN][1000 genomes]
rs4903955	0.83[EUR][1000 genomes]
rs6574606	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6574608	0.82[ASN][1000 genomes]
rs6574609	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6574610	0.82[ASN][1000 genomes]
rs7140452	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7143744	0.81[AFR][1000 genomes]
rs7145224	0.85[EUR][1000 genomes]
rs7147306	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7154269	0.82[EUR][1000 genomes]
rs7156306	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7156572	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7157845	0.81[ASN][1000 genomes]
rs7158936	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs722906	0.82[ASN][1000 genomes]
rs72693011	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72693013	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72693050	0.80[ASN][1000 genomes]
rs7493314	0.81[ASN][1000 genomes]
rs759918	0.85[ASN][1000 genomes]
rs759919	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs768359	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8008366	0.83[ASN][1000 genomes]
rs8009508	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8010491	0.88[ASN][1000 genomes]
rs8012343	0.83[EUR][1000 genomes]
rs8016507	0.81[ASN][1000 genomes]
rs8017038	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8022600	0.82[EUR][1000 genomes]
rs9323694	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9671671	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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