Variant report

Variant	rs12084988
Chromosome Location	chr1:184706885-184706886
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	chr1:184705153..184707744-chr1:184942725..184944472,2	K562	blood:

Variant related genes	Relation type
ENSG00000135842	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10911625	1.00[AMR][1000 genomes]
rs10911632	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911643	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911646	1.00[AFR][1000 genomes]
rs12057178	1.00[AMR][1000 genomes]
rs12060591	1.00[AFR][1000 genomes]
rs12060763	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12065445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12065460	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12069021	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070355	1.00[ASN][1000 genomes]
rs12083577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12089563	1.00[AMR][1000 genomes]
rs12091260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12091830	1.00[AMR][1000 genomes]
rs12564543	1.00[EUR][1000 genomes]
rs1507057	1.00[EUR][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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 target site	13 gene(s)	inside rSNPs	diseases
5	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1010371	chr1:184663898-184709570	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1009529	chr1:184663898-184731215	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1001244	chr1:184667198-184715195	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1849889	chr1:184667371-184718601	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv872584	chr1:184678290-184716457	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184654000-184710800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:184654200-184710000	Weak transcription	Esophagus	oesophagus
3	chr1:184659200-184707000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr1:184661200-184707800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:184668400-184707000	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr1:184669200-184707000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:184669400-184707000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:184671200-184707400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:184674600-184723000	Weak transcription	Aorta	Aorta
10	chr1:184677600-184723200	Weak transcription	Lung	lung
11	chr1:184678800-184710800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:184685000-184721800	Weak transcription	Fetal Heart	heart
13	chr1:184685400-184722800	Weak transcription	Ovary	ovary
14	chr1:184685600-184711200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:184685600-184714400	Weak transcription	Brain Substantia Nigra	brain
16	chr1:184685600-184721000	Weak transcription	Right Ventricle	heart
17	chr1:184685600-184722600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:184685800-184707000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:184685800-184715000	Weak transcription	Small Intestine	intestine
20	chr1:184686200-184722600	Weak transcription	Brain Germinal Matrix	brain
21	chr1:184686400-184715600	Weak transcription	Colonic Mucosa	Colon
22	chr1:184688800-184714200	Weak transcription	Fetal Brain Male	brain
23	chr1:184689200-184709600	Weak transcription	NHLF	lung
24	chr1:184690400-184721800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:184692000-184707200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr1:184692200-184707000	Strong transcription	Fetal Thymus	thymus
27	chr1:184692800-184707000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:184694000-184707000	Strong transcription	Placenta	Placenta
29	chr1:184695200-184715400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:184695400-184714800	Weak transcription	HepG2	liver
31	chr1:184697400-184707000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:184698200-184722800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:184698400-184715000	Weak transcription	Fetal Lung	lung
34	chr1:184699400-184715200	Weak transcription	HUVEC	blood vessel
35	chr1:184699800-184707000	Strong transcription	Dnd41	blood
36	chr1:184699800-184710800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:184699800-184711600	Weak transcription	Gastric	stomach
38	chr1:184699800-184711600	Weak transcription	Thymus	Thymus
39	chr1:184699800-184722200	Weak transcription	Fetal Stomach	stomach
40	chr1:184700000-184711000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr1:184700000-184711600	Weak transcription	Psoas Muscle	Psoas
42	chr1:184700400-184707000	Strong transcription	NHDF-Ad	bronchial
43	chr1:184701000-184714400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:184701600-184707600	Weak transcription	Stomach Mucosa	stomach
45	chr1:184701600-184721800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:184701800-184715000	Weak transcription	Brain Anterior Caudate	brain
47	chr1:184702000-184707000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:184702000-184712000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:184702200-184709000	Weak transcription	Fetal Brain Female	brain
50	chr1:184702200-184712000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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