Variant report

Variant	rs72843633
Chromosome Location	chr6:27182949-27182950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27171746..27174029-chr6:27180862..27184062,3	K562	blood:
2	chr6:27180410..27183242-chr6:27519204..27521142,2	K562	blood:
3	chr6:27182916..27186403-chr6:27189146..27192783,3	K562	blood:
4	chr6:27180369..27183815-chr6:27439308..27442390,4	K562	blood:

Variant related genes	Relation type
ENSG00000096654	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10456349	0.85[ASN][1000 genomes]
rs1062834	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10946896	0.85[ASN][1000 genomes]
rs10946900	0.84[ASN][1000 genomes]
rs1102557	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11758615	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11961179	0.85[ASN][1000 genomes]
rs11961181	0.85[ASN][1000 genomes]
rs11962196	0.85[ASN][1000 genomes]
rs11966939	0.85[ASN][1000 genomes]
rs11969887	0.85[ASN][1000 genomes]
rs12153912	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189835	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12189964	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12190201	0.85[ASN][1000 genomes]
rs12191280	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12192049	0.84[ASN][1000 genomes]
rs12192320	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12192446	0.84[ASN][1000 genomes]
rs12192502	0.85[ASN][1000 genomes]
rs12192766	0.84[ASN][1000 genomes]
rs12192793	0.82[ASN][1000 genomes]
rs12193463	0.85[ASN][1000 genomes]
rs12193511	0.85[ASN][1000 genomes]
rs12193820	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12195041	0.85[ASN][1000 genomes]
rs12195144	0.84[ASN][1000 genomes]
rs12195360	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12196084	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12196889	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12198077	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12200798	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12200985	0.85[ASN][1000 genomes]
rs12201498	0.84[ASN][1000 genomes]
rs12201774	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12203145	0.85[ASN][1000 genomes]
rs12203728	0.84[ASN][1000 genomes]
rs12204768	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12205628	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12205921	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12206996	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12207614	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12208039	0.85[ASN][1000 genomes]
rs12208534	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12209393	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12209429	0.84[ASN][1000 genomes]
rs12209456	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12209800	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12210905	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12212317	0.85[ASN][1000 genomes]
rs12213361	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12214848	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12214930	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12215241	0.82[ASN][1000 genomes]
rs12215773	0.82[ASN][1000 genomes]
rs17345718	0.85[ASN][1000 genomes]
rs2023467	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3531	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3800305	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800306	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3800310	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3999221	0.85[ASN][1000 genomes]
rs41269245	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4541737	0.85[ASN][1000 genomes]
rs4636015	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5030955	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5030958	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67153537	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6911234	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6920115	0.85[ASN][1000 genomes]
rs6931711	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6937764	0.85[ASN][1000 genomes]
rs6937955	0.85[ASN][1000 genomes]
rs6940638	0.82[ASN][1000 genomes]
rs72838236	0.85[ASN][1000 genomes]
rs72838238	0.85[ASN][1000 genomes]
rs72838243	0.85[ASN][1000 genomes]
rs72838245	0.85[ASN][1000 genomes]
rs72838249	0.85[ASN][1000 genomes]
rs72838258	0.85[ASN][1000 genomes]
rs72838260	0.85[ASN][1000 genomes]
rs72838262	0.85[ASN][1000 genomes]
rs72838263	0.85[ASN][1000 genomes]
rs72838266	0.84[ASN][1000 genomes]
rs72838268	0.82[ASN][1000 genomes]
rs72842200	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72843607	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72843608	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72843609	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72843611	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72843613	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72843615	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72843619	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72843622	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72843629	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72843640	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72843641	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72843643	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72843644	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7740207	0.85[ASN][1000 genomes]
rs7753123	0.85[ASN][1000 genomes]
rs7753284	0.85[ASN][1000 genomes]
rs7756481	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7773336	0.85[ASN][1000 genomes]
rs858984	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs858985	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs858988	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs858989	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs858992	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs858995	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348756	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9461316	0.85[ASN][1000 genomes]
rs9467942	0.85[ASN][1000 genomes]
rs9467965	0.85[ASN][1000 genomes]
rs9467971	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27180600-27183600	Active TSS	K562	blood
2	chr6:27181000-27183000	Active TSS	A549	lung
3	chr6:27181000-27183400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:27181000-27183400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:27181200-27183000	Bivalent/Poised TSS	Placenta	Placenta
6	chr6:27181200-27183200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:27181200-27183400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr6:27181200-27183400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr6:27181200-27183400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:27181400-27183000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr6:27181400-27183000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:27181400-27183000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:27181400-27183000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:27181400-27183000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:27181400-27183000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:27181400-27183000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:27181400-27183000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:27181400-27183200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:27181400-27183200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:27181400-27183200	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr6:27181400-27183400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr6:27181400-27183600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr6:27181400-27183600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:27181400-27183800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr6:27181600-27183000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:27181600-27183000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:27181600-27183000	Active TSS	GM12878-XiMat	blood
28	chr6:27181600-27183000	Active TSS	HUVEC	blood vessel
29	chr6:27181600-27183000	Active TSS	NHEK	skin
30	chr6:27181600-27183000	Active TSS	Osteobl	bone
31	chr6:27181600-27183200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:27181800-27183000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:27181800-27183000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:27181800-27183000	Active TSS	HSMMtube	muscle
35	chr6:27182000-27183000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:27182000-27183000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:27182000-27183000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:27182000-27183000	Active TSS	HMEC	breast
39	chr6:27182000-27183200	Active TSS	Muscle Satellite Cultured Cells	--
40	chr6:27182000-27183200	Active TSS	Hela-S3	cervix
41	chr6:27182000-27183200	Active TSS	NHLF	lung
42	chr6:27182200-27183000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:27182200-27183000	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr6:27182200-27183200	Active TSS	NH-A	brain
45	chr6:27182400-27183000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr6:27182400-27183000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:27182400-27183000	Active TSS	NHDF-Ad	bronchial
48	chr6:27182400-27183200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:27182600-27183000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:27182600-27183000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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