Variant report

Variant	rs67735897
Chromosome Location	chr5:70766740-70766741
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:70765660..70767925-chr5:70897951..70899548,2	K562	blood:

Variant related genes	Relation type
ENSG00000131844	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10038709	0.87[ASN][1000 genomes]
rs10057258	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10079014	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1017225	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10942288	0.81[EUR][1000 genomes]
rs10942548	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11739723	0.83[ASN][1000 genomes]
rs12187886	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12652916	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13169095	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13182226	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13183892	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs156756	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs157192	0.86[AMR][1000 genomes]
rs16871757	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1990996	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2059196	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276589	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs277927	0.84[AMR][1000 genomes]
rs277941	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs277946	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs277947	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs277955	0.86[AMR][1000 genomes]
rs277982	0.83[AMR][1000 genomes]
rs277983	0.83[AMR][1000 genomes]
rs277988	0.84[AMR][1000 genomes]
rs277990	0.85[AMR][1000 genomes]
rs277991	0.86[AMR][1000 genomes]
rs277992	0.84[AMR][1000 genomes]
rs279289	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs368462	0.84[AMR][1000 genomes]
rs3761966	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs388918	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs411050	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs412766	0.85[AMR][1000 genomes]
rs421128	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs457889	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs458829	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4602607	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs461942	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs462534	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs464639	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs467880	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs467883	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs468010	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs468796	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4703987	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704050	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55884527	0.83[ASN][1000 genomes]
rs561139	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs617876	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6872978	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7443752	0.85[ASN][1000 genomes]
rs7449303	0.82[ASN][1000 genomes]
rs875136	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9885334	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv528571	chr5:70679626-70767269	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv882176	chr5:70738250-70860665	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2754424	chr5:70749744-70885544	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70752600-70777200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:70752600-70789200	Weak transcription	Small Intestine	intestine
3	chr5:70752600-70794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:70753000-70781400	Weak transcription	Fetal Heart	heart
5	chr5:70753400-70771800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:70753600-70777800	Weak transcription	Stomach Mucosa	stomach
7	chr5:70754200-70769600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:70754200-70815800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:70754400-70767000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:70754400-70767800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:70754400-70768400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:70754400-70768400	Strong transcription	Liver	Liver
13	chr5:70754400-70768600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:70754400-70768600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:70754400-70768600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr5:70754400-70768600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:70754400-70769000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:70754400-70769200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:70754400-70769400	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr5:70754400-70769600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:70754400-70770400	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:70754400-70772200	Strong transcription	Dnd41	blood
23	chr5:70754400-70773200	Strong transcription	Adipose Nuclei	Adipose
24	chr5:70754400-70773600	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:70754400-70773800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr5:70754400-70774800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:70754400-70774800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:70754400-70774800	Strong transcription	Placenta	Placenta
29	chr5:70754400-70777800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:70754400-70778200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:70754400-70795800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:70754400-70807200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr5:70754400-70809800	Strong transcription	Fetal Intestine Large	intestine
34	chr5:70754400-70824200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:70754600-70768000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:70754600-70768400	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr5:70754600-70773600	Strong transcription	Fetal Thymus	thymus
38	chr5:70754600-70774400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:70754600-70774800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr5:70754600-70820400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr5:70754600-70820400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:70754800-70767800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:70755800-70777800	Weak transcription	Psoas Muscle	Psoas
44	chr5:70758000-70768000	Strong transcription	Primary T cells from cord blood	blood
45	chr5:70759400-70768600	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:70759400-70779000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr5:70759400-70780000	Weak transcription	Fetal Brain Male	brain
48	chr5:70759600-70778200	Weak transcription	NHLF	lung
49	chr5:70759800-70833400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:70760200-70767200	Weak transcription	Hela-S3	cervix

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