Variant report

Variant	rs9883029
Chromosome Location	chr3:196336792-196336793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:196335830..196336817-chr3:196411190..196412555,17	MCF-7	breast:
2	chr3:196336009..196336941-chr3:196366831..196367714,2	NB4	blood:
3	chr3:196336063..196338579-chr3:196359293..196361189,3	MCF-7	breast:
4	chr3:196336240..196338630-chr3:196392949..196395877,2	K562	blood:
5	chr3:196336135..196338405-chr3:196439532..196442139,2	K562	blood:
6	chr3:196334981..196337035-chr3:196350355..196352055,2	K562	blood:
7	chr3:196334907..196337248-chr3:196375808..196377333,2	K562	blood:
8	chr3:196330580..196333990-chr3:196334226..196339571,6	K562	blood:
9	chr3:196336450..196339251-chr3:196363480..196365260,2	K562	blood:
10	chr3:196335774..196336843-chr3:196411441..196412683,26	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163964	Chromatin interaction
ENSG00000232065	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11719820	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12718060	0.85[ASN][1000 genomes]
rs13075023	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13075160	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1973264	0.85[ASN][1000 genomes]
rs4916511	0.88[EUR][1000 genomes]
rs4916512	0.87[EUR][1000 genomes]
rs6763582	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6798553	0.85[ASN][1000 genomes]
rs6809251	0.87[ASN][1000 genomes]
rs9868705	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[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	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
5	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
6	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
7	nsv491864	chr3:196263064-196468533	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv829828	chr3:196268121-196463641	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv1010643	chr3:196288064-196788645	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
10	nsv878188	chr3:196312124-196553867	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196327000-196336800	Weak transcription	Gastric	stomach
2	chr3:196331800-196337400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:196331800-196339000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:196331800-196339200	Weak transcription	Right Atrium	heart
5	chr3:196336000-196336800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:196336000-196337000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:196336000-196338800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr3:196336000-196339200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr3:196336000-196340200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr3:196336200-196337200	Enhancers	Primary B cells from peripheral blood	blood
11	chr3:196336200-196337200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr3:196336200-196337400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr3:196336200-196339800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr3:196336200-196339800	Enhancers	Placenta	Placenta
15	chr3:196336200-196341000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:196336400-196336800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:196336400-196336800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:196336400-196336800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:196336400-196336800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:196336400-196336800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr3:196336400-196336800	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr3:196336400-196336800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:196336400-196336800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:196336400-196336800	Enhancers	Liver	Liver
25	chr3:196336400-196336800	Flanking Active TSS	Fetal Thymus	thymus
26	chr3:196336400-196336800	Enhancers	Rectal Smooth Muscle	rectum
27	chr3:196336400-196336800	Enhancers	Stomach Smooth Muscle	stomach
28	chr3:196336400-196336800	Flanking Active TSS	Thymus	Thymus
29	chr3:196336400-196336800	Enhancers	A549	lung
30	chr3:196336400-196336800	Flanking Active TSS	GM12878-XiMat	blood
31	chr3:196336400-196336800	Enhancers	Hela-S3	cervix
32	chr3:196336400-196336800	Enhancers	NHEK	skin
33	chr3:196336400-196337000	Enhancers	Brain Anterior Caudate	brain
34	chr3:196336400-196337000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr3:196336400-196337000	Enhancers	Fetal Intestine Small	intestine
36	chr3:196336400-196337000	Enhancers	HUVEC	blood vessel
37	chr3:196336400-196337200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr3:196336400-196337200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr3:196336400-196337200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:196336400-196337200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:196336400-196337200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:196336400-196337200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:196336400-196337200	Enhancers	Colon Smooth Muscle	Colon
44	chr3:196336400-196337200	Enhancers	Fetal Intestine Large	intestine
45	chr3:196336400-196337200	Enhancers	Fetal Muscle Leg	muscle
46	chr3:196336400-196337200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr3:196336400-196337200	Flanking Active TSS	Dnd41	blood
48	chr3:196336400-196337200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr3:196336400-196337400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr3:196336400-196337400	Enhancers	K562	blood

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