Variant report

Variant	rs72890349
Chromosome Location	chr2:183943952-183943953
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183902000..183906390-chr2:183941845..183945087,6	MCF-7	breast:
2	chr2:183941058..183944169-chr2:183988077..183990587,3	MCF-7	breast:
3	chr2:183942606..183944610-chr2:183988840..183990429,2	K562	blood:
4	chr2:183936424..183941841-chr2:183941943..183946520,8	K562	blood:
5	chr2:183942521..183944578-chr2:183980527..183982888,2	K562	blood:
6	chr2:183942219..183944106-chr2:183988840..183990406,2	K562	blood:
7	chr2:183902872..183905490-chr2:183940905..183944482,4	K562	blood:

Variant related genes	Relation type
ENSG00000231203	Chromatin interaction
ENSG00000061676	Chromatin interaction
ENSG00000163002	Chromatin interaction

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs1473614	0.90[EUR][1000 genomes]
rs1473615	0.90[EUR][1000 genomes]
rs1473616	0.90[EUR][1000 genomes]
rs2675053	0.82[EUR][1000 genomes]
rs2675054	0.90[EUR][1000 genomes]
rs2705715	0.90[EUR][1000 genomes]
rs2705718	0.90[EUR][1000 genomes]
rs2705719	0.90[EUR][1000 genomes]
rs2705720	0.90[EUR][1000 genomes]
rs2705721	0.90[EUR][1000 genomes]
rs35142583	0.87[AMR][1000 genomes]
rs36077496	0.87[AMR][1000 genomes]
rs55657876	0.90[EUR][1000 genomes]
rs55696219	0.90[EUR][1000 genomes]
rs55707150	0.90[EUR][1000 genomes]
rs55764044	0.90[EUR][1000 genomes]
rs55957340	0.90[EUR][1000 genomes]
rs56152140	0.87[AMR][1000 genomes]
rs56182353	1.00[AMR][1000 genomes]
rs6707761	0.87[AMR][1000 genomes]
rs6712479	0.90[EUR][1000 genomes]
rs6722457	0.90[EUR][1000 genomes]
rs6743323	1.00[AMR][1000 genomes]
rs6750392	1.00[AMR][1000 genomes]
rs72886518	0.87[AMR][1000 genomes]
rs72886527	0.87[AMR][1000 genomes]
rs72886538	0.87[AMR][1000 genomes]
rs72886541	0.87[AMR][1000 genomes]
rs72886545	0.87[AMR][1000 genomes]
rs72886547	0.87[AMR][1000 genomes]
rs72886553	0.87[AMR][1000 genomes]
rs72886557	0.87[AMR][1000 genomes]
rs72886568	0.87[AMR][1000 genomes]
rs72886577	0.87[AMR][1000 genomes]
rs72886596	0.87[AMR][1000 genomes]
rs72886600	0.87[AMR][1000 genomes]
rs72888431	0.87[AMR][1000 genomes]
rs72888449	0.87[AMR][1000 genomes]
rs72888452	0.87[AMR][1000 genomes]
rs72888461	0.87[AMR][1000 genomes]
rs72888464	0.87[AMR][1000 genomes]
rs72888472	0.87[AMR][1000 genomes]
rs72888474	0.87[AMR][1000 genomes]
rs72888478	1.00[AMR][1000 genomes]
rs72888481	1.00[AMR][1000 genomes]
rs72888488	1.00[AMR][1000 genomes]
rs72888489	1.00[AMR][1000 genomes]
rs72890307	1.00[AMR][1000 genomes]
rs72890345	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72890352	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890353	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890370	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72890384	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72890392	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72890398	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72892604	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72892631	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72892638	0.90[EUR][1000 genomes]
rs72892656	0.90[EUR][1000 genomes]
rs72892689	0.90[EUR][1000 genomes]
rs72892694	0.90[EUR][1000 genomes]
rs72892702	0.90[EUR][1000 genomes]
rs72894503	0.90[EUR][1000 genomes]
rs72894513	0.90[EUR][1000 genomes]
rs72894523	0.90[EUR][1000 genomes]
rs72894527	0.90[EUR][1000 genomes]
rs72894533	0.90[EUR][1000 genomes]
rs72894535	0.90[EUR][1000 genomes]
rs72894537	0.90[EUR][1000 genomes]
rs72894539	0.90[EUR][1000 genomes]
rs72894544	0.90[EUR][1000 genomes]
rs72894546	0.90[EUR][1000 genomes]
rs72894570	0.90[EUR][1000 genomes]
rs72894585	0.90[EUR][1000 genomes]
rs72894593	0.90[EUR][1000 genomes]
rs72894596	0.90[EUR][1000 genomes]
rs72896508	0.90[EUR][1000 genomes]
rs72896517	0.90[EUR][1000 genomes]
rs72896518	0.90[EUR][1000 genomes]
rs72896520	0.90[EUR][1000 genomes]
rs72896524	0.90[EUR][1000 genomes]
rs72896528	0.90[EUR][1000 genomes]
rs72896534	0.90[EUR][1000 genomes]
rs72896555	0.90[EUR][1000 genomes]
rs72896556	0.90[EUR][1000 genomes]
rs72896558	0.90[EUR][1000 genomes]
rs72896559	0.90[EUR][1000 genomes]
rs72896560	0.90[EUR][1000 genomes]
rs72896567	0.90[EUR][1000 genomes]
rs72896581	0.90[EUR][1000 genomes]
rs72896586	0.87[EUR][1000 genomes]
rs72896598	0.90[EUR][1000 genomes]
rs72898507	0.90[EUR][1000 genomes]
rs72898512	0.90[EUR][1000 genomes]
rs72898513	0.90[EUR][1000 genomes]
rs72898514	0.90[EUR][1000 genomes]
rs72898516	0.90[EUR][1000 genomes]
rs72898517	0.90[EUR][1000 genomes]
rs72898522	0.90[EUR][1000 genomes]
rs72898525	0.90[EUR][1000 genomes]
rs72898529	0.90[EUR][1000 genomes]
rs72898532	0.90[EUR][1000 genomes]
rs72898535	0.90[EUR][1000 genomes]
rs72898538	0.87[EUR][1000 genomes]
rs72898539	0.90[EUR][1000 genomes]
rs72898542	0.90[EUR][1000 genomes]
rs72898545	0.92[EUR][1000 genomes]
rs72898548	0.90[EUR][1000 genomes]
rs72898555	0.90[EUR][1000 genomes]
rs72898558	0.90[EUR][1000 genomes]
rs72898562	0.87[EUR][1000 genomes]
rs72898566	0.90[EUR][1000 genomes]
rs72898569	0.90[EUR][1000 genomes]
rs72898573	0.90[EUR][1000 genomes]
rs72898574	0.90[EUR][1000 genomes]
rs72898578	0.87[EUR][1000 genomes]
rs72898581	0.90[EUR][1000 genomes]
rs72900766	0.87[AMR][1000 genomes]
rs72900772	0.87[AMR][1000 genomes]
rs72900775	0.87[AMR][1000 genomes]
rs72900780	0.87[AMR][1000 genomes]
rs7562034	0.90[EUR][1000 genomes]
rs7565260	0.90[EUR][1000 genomes]
rs7566497	0.87[AMR][1000 genomes]
rs7567370	0.90[EUR][1000 genomes]
rs7577407	0.90[EUR][1000 genomes]
rs7597417	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183942600-183944400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:183942800-183944000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:183942800-183944000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:183942800-183944000	Bivalent/Poised TSS	HepG2	liver
5	chr2:183942800-183944000	Active TSS	NHEK	skin
6	chr2:183942800-183944200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr2:183942800-183944200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:183942800-183944200	Active TSS	Muscle Satellite Cultured Cells	--
9	chr2:183942800-183944200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:183942800-183944200	Active TSS	Brain Germinal Matrix	brain
11	chr2:183942800-183944200	Active TSS	Brain Hippocampus Middle	brain
12	chr2:183942800-183944200	Active TSS	Duodenum Mucosa	Duodenum
13	chr2:183942800-183944200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr2:183942800-183944200	Active TSS	Fetal Stomach	stomach
15	chr2:183942800-183944200	Active TSS	A549	lung
16	chr2:183942800-183944400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr2:183942800-183944400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:183942800-183944400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:183942800-183944400	ZNF genes & repeats	Fetal Brain Male	brain
20	chr2:183942800-183944400	Active TSS	Fetal Kidney	kidney
21	chr2:183942800-183944400	Flanking Active TSS	HUVEC	blood vessel
22	chr2:183942800-183944600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:183942800-183944600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:183942800-183944600	Active TSS	Fetal Intestine Large	intestine
25	chr2:183942800-183944600	Active TSS	Fetal Intestine Small	intestine
26	chr2:183942800-183944600	Active TSS	Stomach Smooth Muscle	stomach
27	chr2:183942800-183944600	Active TSS	K562	blood
28	chr2:183942800-183944800	Active TSS	Fetal Brain Female	brain
29	chr2:183942800-183944800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr2:183942800-183944800	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr2:183942800-183945000	Active TSS	Brain Anterior Caudate	brain
32	chr2:183942800-183945000	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr2:183943000-183944000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr2:183943000-183944000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr2:183943000-183944000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:183943000-183944000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:183943000-183944000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:183943000-183944000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:183943000-183944000	Active TSS	Fetal Lung	lung
40	chr2:183943000-183944000	Active TSS	Lung	lung
41	chr2:183943000-183944000	Active TSS	Placenta Amnion	Placenta Amnion
42	chr2:183943000-183944000	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr2:183943000-183944000	Active TSS	Small Intestine	intestine
44	chr2:183943000-183944000	Active TSS	Spleen	Spleen
45	chr2:183943000-183944200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:183943000-183944200	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr2:183943000-183944200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:183943000-183944200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:183943000-183944200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr2:183943000-183944200	Active TSS	Primary T killer memory cells from peripheral blood	blood

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