Variant report

Variant	rs9849530
Chromosome Location	chr3:196255252-196255253
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:196253926..196256027-chr3:196295277..196297106,2	K562	blood:

Variant related genes	Relation type
ENSG00000174013	Chromatin interaction
ENSG00000185798	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11185544	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706197	0.84[ASN][1000 genomes]
rs11711594	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11711952	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714694	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11920455	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12489885	0.95[ASN][1000 genomes]
rs12490276	0.81[ASN][1000 genomes]
rs12494859	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12495687	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2054748	0.84[ASN][1000 genomes]
rs2054749	0.84[ASN][1000 genomes]
rs2054750	0.84[ASN][1000 genomes]
rs2086891	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101285	0.83[EUR][1000 genomes]
rs2341334	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28479172	0.84[ASN][1000 genomes]
rs2880030	0.84[ASN][1000 genomes]
rs3964310	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4488870	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56144237	0.97[ASN][1000 genomes]
rs57365032	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60668021	0.84[ASN][1000 genomes]
rs62410583	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6583317	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6583318	0.95[ASN][1000 genomes]
rs66588136	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6765975	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775794	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6775806	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6780633	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6780856	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799694	0.95[ASN][1000 genomes]
rs6799697	0.87[ASN][1000 genomes]
rs6803397	0.92[ASN][1000 genomes]
rs6803596	0.87[ASN][1000 genomes]
rs6807081	0.89[ASN][1000 genomes]
rs6807097	0.92[ASN][1000 genomes]
rs6810083	0.89[ASN][1000 genomes]
rs73219653	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73219654	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73219660	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614249	0.86[ASN][1000 genomes]
rs7615547	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623111	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623224	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7629990	0.92[ASN][1000 genomes]
rs7651365	0.86[ASN][1000 genomes]
rs9311	0.84[ASN][1000 genomes]
rs9647412	0.84[ASN][1000 genomes]
rs9647413	0.84[ASN][1000 genomes]
rs9811428	0.89[ASN][1000 genomes]
rs9813420	0.84[ASN][1000 genomes]
rs9814342	0.84[ASN][1000 genomes]
rs9817377	0.84[ASN][1000 genomes]
rs9818507	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9831225	0.84[ASN][1000 genomes]
rs9839347	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9840938	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9848622	0.84[EUR][1000 genomes]
rs9854347	0.90[ASN][1000 genomes]
rs9858251	0.95[ASN][1000 genomes]
rs9868492	0.84[ASN][1000 genomes]
rs9870613	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9880563	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	55 gene(s)	inside rSNPs	diseases
4	esv2752687	chr3:196147690-196286690	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1010483	chr3:196210054-196319543	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv536896	chr3:196210054-196319543	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	esv2763750	chr3:196242261-196278366	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196254400-196255400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:196254400-196255400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:196254400-196255400	Enhancers	Fetal Thymus	thymus
4	chr3:196254400-196255400	Enhancers	NHLF	lung
5	chr3:196254600-196255400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:196254600-196255400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:196254600-196255400	Enhancers	Primary B cells from peripheral blood	blood
8	chr3:196254600-196255400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:196254600-196255400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:196254600-196255400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:196254600-196255400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:196254600-196255400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr3:196254600-196255400	Enhancers	Thymus	Thymus
14	chr3:196254600-196255400	Enhancers	Hela-S3	cervix
15	chr3:196254600-196255400	Enhancers	HMEC	breast
16	chr3:196254600-196255400	Enhancers	NH-A	brain
17	chr3:196254600-196255400	Enhancers	NHEK	skin
18	chr3:196254600-196255400	Enhancers	Osteobl	bone
19	chr3:196254600-196255600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:196254600-196255800	Enhancers	HepG2	liver
21	chr3:196254800-196255400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:196254800-196255400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:196254800-196255400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:196254800-196255400	Enhancers	Esophagus	oesophagus
25	chr3:196255000-196255400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:196255000-196255400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:196255000-196255400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:196255000-196255400	Enhancers	GM12878-XiMat	blood
29	chr3:196255000-196256000	Active TSS	K562	blood
30	chr3:196255000-196256200	Active TSS	A549	lung
31	chr3:196255200-196255400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:196255200-196255400	Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr3:196255200-196255400	Enhancers	Primary hematopoietic stem cells	blood
34	chr3:196255200-196255400	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr3:196255200-196255400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr3:196255200-196255400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:196255200-196255400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:196255200-196255400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:196255200-196255400	Enhancers	Brain Cingulate Gyrus	brain
40	chr3:196255200-196255400	Enhancers	Fetal Muscle Trunk	muscle
41	chr3:196255200-196255400	Enhancers	Placenta	Placenta
42	chr3:196255200-196255400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr3:196255200-196255400	Enhancers	Right Ventricle	heart
44	chr3:196255200-196255400	Enhancers	Stomach Smooth Muscle	stomach
45	chr3:196255200-196255400	Enhancers	Dnd41	blood
46	chr3:196255200-196255400	Weak transcription	NHDF-Ad	bronchial
47	chr3:196255200-196255600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:196255200-196256200	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr3:196255200-196256200	Enhancers	Primary B cells from cord blood	blood

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