Variant report

Variant	rs61401568
Chromosome Location	chr1:228338689-228338690
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228288459..228290327-chr1:228338206..228340411,2	K562	blood:
2	chr1:228291320..228293457-chr1:228336716..228339227,2	K562	blood:

Variant related genes	Relation type
ENSG00000143793	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs11541554	1.00[AMR][1000 genomes]
rs15109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16848270	0.90[ASN][1000 genomes]
rs2231717	1.00[AMR][1000 genomes]
rs55662277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55686465	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55904630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55923168	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56003736	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56029925	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56080014	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56137152	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56280722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56285667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56377909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56386805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56410225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56831205	0.90[ASN][1000 genomes]
rs57446195	0.90[ASN][1000 genomes]
rs58045861	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59460700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59478442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60245137	0.90[ASN][1000 genomes]
rs60628313	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61100243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61230585	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61737797	0.90[ASN][1000 genomes]
rs74140907	0.90[ASN][1000 genomes]
rs74140910	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs74140912	0.90[ASN][1000 genomes]
rs74140915	0.90[ASN][1000 genomes]
rs74140916	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs74140918	0.90[ASN][1000 genomes]
rs74140919	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs74140923	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs74140925	0.90[ASN][1000 genomes]
rs74140953	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs74140954	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs74140955	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs74140956	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs74140957	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs74140960	0.90[ASN][1000 genomes]
rs74140961	0.90[ASN][1000 genomes]
rs74140963	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs74140965	0.90[ASN][1000 genomes]
rs74140967	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs74140969	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs74140970	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74140971	1.00[AMR][1000 genomes]
rs74140972	1.00[AMR][1000 genomes]
rs74140973	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74140974	1.00[AMR][1000 genomes]
rs74140975	1.00[AMR][1000 genomes]
rs74140976	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74140977	1.00[AMR][1000 genomes]
rs74140978	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74140980	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74140981	1.00[AMR][1000 genomes]
rs74140982	1.00[AMR][1000 genomes]
rs74140986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74140990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140994	1.00[ASN][1000 genomes]
rs74140996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74140999	1.00[AMR][1000 genomes]
rs74141000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74141002	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74142604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74142608	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74142610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142616	1.00[AFR][1000 genomes]
rs74142618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142624	0.85[AFR][1000 genomes]
rs74142625	1.00[ASN][1000 genomes]
rs74142626	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142627	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74142629	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142630	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74142638	0.85[AFR][1000 genomes]
rs74142640	0.85[AFR][1000 genomes]
rs74142642	1.00[ASN][1000 genomes]
rs74142644	1.00[ASN][1000 genomes]
rs74142645	1.00[ASN][1000 genomes]
rs74142647	1.00[ASN][1000 genomes]
rs74143631	0.90[ASN][1000 genomes]
rs74143632	0.90[ASN][1000 genomes]
rs74143634	0.90[ASN][1000 genomes]
rs74143635	0.90[ASN][1000 genomes]
rs74143636	0.90[ASN][1000 genomes]
rs74143637	0.90[ASN][1000 genomes]
rs74143638	0.90[ASN][1000 genomes]
rs74143640	0.90[ASN][1000 genomes]
rs74143641	0.90[ASN][1000 genomes]
rs74143642	0.90[ASN][1000 genomes]
rs74143662	0.90[ASN][1000 genomes]
rs74143665	0.90[ASN][1000 genomes]
rs74143667	0.90[ASN][1000 genomes]
rs752108	0.90[ASN][1000 genomes]
rs752109	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
8	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
9	nsv873256	chr1:228322826-228359775	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
10	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
11	nsv549288	chr1:228327659-228363750	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv549289	chr1:228327999-228371098	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
13	nsv549290	chr1:228333652-228349806	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer 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
14	nsv873258	chr1:228334088-228359775	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
15	nsv873259	chr1:228334277-228359775	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
16	nsv873260	chr1:228334277-228371098	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228329000-228339400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:228329000-228339600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:228331000-228338800	Weak transcription	HSMMtube	muscle
4	chr1:228331400-228341800	Weak transcription	Psoas Muscle	Psoas
5	chr1:228331600-228341000	Genic enhancers	Fetal Thymus	thymus
6	chr1:228332400-228339400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:228332800-228339000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:228332800-228349800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:228333200-228342200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:228333200-228344600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:228333800-228350400	Weak transcription	Primary B cells from cord blood	blood
12	chr1:228334200-228340000	Genic enhancers	Spleen	Spleen
13	chr1:228334800-228338800	Weak transcription	Aorta	Aorta
14	chr1:228335800-228339600	Enhancers	Right Atrium	heart
15	chr1:228335800-228339800	Enhancers	Fetal Lung	lung
16	chr1:228336000-228339000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:228336000-228342000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:228336200-228339400	Genic enhancers	Muscle Satellite Cultured Cells	--
19	chr1:228336400-228339200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:228336400-228339200	Enhancers	HSMM	muscle
21	chr1:228336400-228339400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:228336400-228339600	Enhancers	NHDF-Ad	bronchial
23	chr1:228336600-228338800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:228336600-228339400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:228336600-228339600	Enhancers	Left Ventricle	heart
26	chr1:228336600-228340400	Enhancers	Fetal Heart	heart
27	chr1:228336600-228341600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:228336600-228342000	Weak transcription	Primary T cells from cord blood	blood
29	chr1:228336800-228339000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:228336800-228339000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr1:228336800-228339200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:228336800-228339400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:228336800-228339400	Enhancers	Stomach Mucosa	stomach
34	chr1:228336800-228339600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:228336800-228340000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:228336800-228350200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:228337000-228338800	Enhancers	Pancreas	Pancrea
38	chr1:228337000-228339000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
39	chr1:228337000-228339000	Enhancers	HMEC	breast
40	chr1:228337000-228339200	Enhancers	NH-A	brain
41	chr1:228337000-228339400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:228337000-228339400	Enhancers	Osteobl	bone
43	chr1:228337000-228339800	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr1:228337000-228341800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:228337000-228342200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:228337000-228343000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr1:228337200-228339000	Weak transcription	Liver	Liver
48	chr1:228337200-228339800	Enhancers	K562	blood
49	chr1:228337200-228340000	Enhancers	Fetal Muscle Leg	muscle
50	chr1:228337200-228340400	Enhancers	Fetal Muscle Trunk	muscle

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