Variant report

Variant	rs6773945
Chromosome Location	chr3:48154888-48154889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48130893..48133841-chr3:48154652..48156153,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2593817	1.00[AMR][1000 genomes]
rs319683	1.00[AMR][1000 genomes]
rs34675858	1.00[AMR][1000 genomes]
rs3731495	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3731539	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3731547	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4476528	1.00[AMR][1000 genomes]
rs55808934	1.00[AMR][1000 genomes]
rs6442092	1.00[AMR][1000 genomes]
rs6442103	0.93[AFR][1000 genomes]
rs6442104	1.00[AMR][1000 genomes]
rs7372108	1.00[AMR][1000 genomes]
rs73831540	1.00[AMR][1000 genomes]
rs73831544	1.00[AMR][1000 genomes]
rs73831562	1.00[AMR][1000 genomes]
rs73831565	1.00[AMR][1000 genomes]
rs9863220	1.00[AMR][1000 genomes]
rs9917799	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv1012828	chr3:47996472-48192862	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv876760	chr3:48019258-48197614	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv834681	chr3:48032000-48181775	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1004557	chr3:48056534-48256694	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
11	nsv1012024	chr3:48119229-48242670	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48141400-48166800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:48149200-48162400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:48153200-48155000	Enhancers	Primary B cells from peripheral blood	blood
4	chr3:48153200-48155200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:48153400-48155000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr3:48153400-48155400	Enhancers	Primary B cells from cord blood	blood
7	chr3:48153600-48155000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr3:48153800-48155000	Enhancers	Thymus	Thymus
9	chr3:48154000-48155000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:48154200-48155000	Enhancers	Primary hematopoietic stem cells	blood
11	chr3:48154200-48155000	Enhancers	Aorta	Aorta
12	chr3:48154400-48155000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:48154400-48155000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr3:48154400-48155000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:48154400-48155000	Enhancers	Right Atrium	heart
16	chr3:48154400-48155200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:48154400-48155600	Enhancers	Ovary	ovary
18	chr3:48154600-48155000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:48154600-48155000	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr3:48154600-48155400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr3:48154600-48157200	Weak transcription	Fetal Heart	heart
22	chr3:48154600-48157400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:48154600-48159200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:48154600-48159600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr3:48154600-48160000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:48154800-48155400	Enhancers	GM12878-XiMat	blood
27	chr3:48154800-48155600	Enhancers	Dnd41	blood
28	chr3:48154800-48156000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:48154800-48157600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:48154800-48157600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:48154800-48157600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:48154800-48166400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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