Variant report

Variant	rs9393839
Chromosome Location	chr6:27619221-27619222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27583544..27586615-chr6:27617809..27619941,3	K562	blood:
2	chr6:27583544..27586200-chr6:27617809..27619941,2	K562	blood:
3	chr6:27585819..27588384-chr6:27617472..27619581,2	MCF-7	breast:
4	chr6:27615823..27619826-chr6:27719510..27721663,4	K562	blood:
5	chr6:27617861..27620397-chr6:27623572..27625829,2	K562	blood:
6	chr6:27615823..27619826-chr6:27718831..27721663,4	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1028311	0.90[EUR][1000 genomes]
rs10484400	0.91[ASN][1000 genomes]
rs10946943	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12055685	0.92[ASN][1000 genomes]
rs12173985	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12174087	0.96[ASN][1000 genomes]
rs12663707	0.91[ASN][1000 genomes]
rs12664599	0.90[ASN][1000 genomes]
rs1555021	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16867886	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16867916	0.92[ASN][1000 genomes]
rs16867921	0.91[ASN][1000 genomes]
rs1973889	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2142704	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2143082	0.90[EUR][1000 genomes]
rs4236044	0.89[EUR][1000 genomes]
rs4711157	0.90[EUR][1000 genomes]
rs4713114	0.93[EUR][1000 genomes]
rs56408767	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59893892	0.91[ASN][1000 genomes]
rs6456798	0.90[EUR][1000 genomes]
rs6906653	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6908024	0.90[EUR][1000 genomes]
rs6911283	0.90[EUR][1000 genomes]
rs6920044	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6934295	0.90[EUR][1000 genomes]
rs73385147	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73385152	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73385154	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73739763	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7753236	0.91[ASN][1000 genomes]
rs7763685	0.90[EUR][1000 genomes]
rs878241	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9348771	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9357043	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9357044	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9368517	0.97[ASN][1000 genomes]
rs9368521	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9368524	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9368525	0.94[ASN][1000 genomes]
rs9368526	0.91[ASN][1000 genomes]
rs9379994	0.81[ASN][1000 genomes]
rs9379995	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9380000	0.97[ASN][1000 genomes]
rs9380001	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380005	0.88[ASN][1000 genomes]
rs9393826	0.88[EUR][1000 genomes]
rs9393832	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9393835	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9393836	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9393838	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9393842	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9393843	0.85[ASN][1000 genomes]
rs9461392	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9468157	0.89[EUR][1000 genomes]
rs9468158	0.90[EUR][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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27618200-27619400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr6:27618200-27619600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:27618200-27619600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:27618200-27619600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:27618200-27619600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:27618200-27619600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:27618200-27619600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:27618200-27619800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:27618200-27619800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:27618200-27619800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr6:27618200-27619800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:27618200-27619800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr6:27618200-27619800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr6:27618200-27619800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr6:27618400-27619400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:27618400-27619400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:27618400-27619400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:27618400-27619400	Active TSS	A549	lung
19	chr6:27618400-27619600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:27618400-27619600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:27618400-27619600	Active TSS	HMEC	breast
22	chr6:27618800-27619600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:27618800-27619600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:27618800-27619600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:27618800-27619600	Active TSS	NHEK	skin
26	chr6:27619000-27619400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr6:27619000-27619400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:27619000-27619400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:27619000-27619400	Bivalent Enhancer	Fetal Intestine Large	intestine
30	chr6:27619000-27619600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:27619000-27619600	Flanking Active TSS	HepG2	liver
32	chr6:27619000-27619600	Flanking Active TSS	K562	blood
33	chr6:27619200-27619400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:27619200-27619400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:27619200-27619400	Flanking Active TSS	GM12878-XiMat	blood
36	chr6:27619200-27619600	Flanking Active TSS	Hela-S3	cervix

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