Variant report

Variant	rs73890827
Chromosome Location	chr3:195155590-195155591
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	chr3:195150893..195158887-chr3:195161492..195167356,11	K562	blood:
2	chr3:195151499..195154250-chr3:195155188..195159496,5	K562	blood:

Variant related genes	Relation type
ENSG00000114331	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11926961	1.00[AMR][1000 genomes]
rs2095969	1.00[AMR][1000 genomes]
rs55716204	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56309159	1.00[AMR][1000 genomes]
rs56911559	1.00[AMR][1000 genomes]
rs57367947	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58212573	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58381246	1.00[AMR][1000 genomes]
rs58471352	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60222890	1.00[AMR][1000 genomes]
rs60284665	1.00[AMR][1000 genomes]
rs60560609	1.00[AMR][1000 genomes]
rs60584652	1.00[AMR][1000 genomes]
rs6764918	1.00[AMR][1000 genomes]
rs6790118	1.00[AMR][1000 genomes]
rs6790784	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6809102	1.00[AMR][1000 genomes]
rs73890763	1.00[AMR][1000 genomes]
rs73890764	1.00[AMR][1000 genomes]
rs73890767	1.00[AMR][1000 genomes]
rs73890778	1.00[AMR][1000 genomes]
rs73890782	1.00[AMR][1000 genomes]
rs73890784	1.00[AMR][1000 genomes]
rs73890791	1.00[AMR][1000 genomes]
rs73890793	1.00[AMR][1000 genomes]
rs73890826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893622	1.00[AMR][1000 genomes]
rs73893623	1.00[AMR][1000 genomes]
rs73893628	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
2	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
3	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
4	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
6	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
7	nsv1005519	chr3:194964301-195340515	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv432511	chr3:194986167-195479748	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
9	nsv432512	chr3:195007260-195475989	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
10	nsv878138	chr3:195057001-195477791	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
11	nsv878139	chr3:195058837-195158031	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv878141	chr3:195065255-195158031	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1006229	chr3:195071421-195474751	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
14	esv2754364	chr3:195102703-195553690	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
15	esv2757028	chr3:195102787-195479748	Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
16	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
17	nsv878143	chr3:195115229-195158031	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv878144	chr3:195120090-195158031	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv432513	chr3:195121072-195478861	Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
20	nsv432514	chr3:195121110-195478861	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
21	nsv432515	chr3:195121110-195528226	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
22	nsv829824	chr3:195131067-195286698	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195094800-195161200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:195095200-195161800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:195131800-195160600	Weak transcription	Hela-S3	cervix
4	chr3:195132000-195161200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:195133800-195161000	Weak transcription	NHDF-Ad	bronchial
6	chr3:195138600-195157200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:195144800-195161200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:195145600-195162400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:195147000-195161000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:195147000-195162200	Weak transcription	Esophagus	oesophagus
11	chr3:195147200-195161800	Weak transcription	Fetal Thymus	thymus
12	chr3:195147800-195159000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr3:195147800-195159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:195147800-195160400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:195147800-195162400	Weak transcription	Left Ventricle	heart
16	chr3:195148000-195157000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr3:195148000-195159200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr3:195148200-195157800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr3:195148200-195159000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr3:195148200-195159200	Weak transcription	Ovary	ovary
21	chr3:195148400-195157200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr3:195148600-195155600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr3:195148600-195157000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:195148600-195161000	Weak transcription	K562	blood
25	chr3:195148600-195161800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:195150000-195157600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:195150600-195161000	Weak transcription	NHLF	lung
28	chr3:195151400-195156400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr3:195153400-195160600	Weak transcription	Primary T cells from cord blood	blood
30	chr3:195153600-195159000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr3:195153600-195161000	Weak transcription	Fetal Lung	lung
32	chr3:195153800-195159000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr3:195153800-195159200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:195153800-195159400	Weak transcription	Primary B cells from cord blood	blood
35	chr3:195154000-195160000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:195154000-195161000	Weak transcription	Fetal Intestine Small	intestine
37	chr3:195155000-195155800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr3:195155000-195159000	Weak transcription	HMEC	breast
39	chr3:195155200-195156600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr3:195155200-195157000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr3:195155200-195161200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr3:195155200-195161200	Weak transcription	Thymus	Thymus
43	chr3:195155200-195162000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:195155200-195162000	Weak transcription	Fetal Stomach	stomach
45	chr3:195155400-195157000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:195155400-195157800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:195155400-195159000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr3:195155400-195159400	Weak transcription	Lung	lung

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