Variant report

Variant	rs2705721
Chromosome Location	chr2:183990288-183990289
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:183942606..183944610-chr2:183988840..183990429,2	K562	blood:
2	chr2:182755789..182757861-chr2:183988319..183990505,2	K562	blood:
3	chr2:183989189..183990903-chr2:184002119..184004777,2	MCF-7	breast:
4	chr2:183900414..183906188-chr2:183987961..183990917,10	MCF-7	breast:
5	chr2:183941058..183944169-chr2:183988077..183990587,3	MCF-7	breast:
6	chr2:183942219..183944106-chr2:183988840..183990406,2	K562	blood:
7	chr2:183977949..183985615-chr2:183986503..183991971,13	K562	blood:
8	chr2:183886816..183889401-chr2:183988651..183990376,2	K562	blood:
9	chr2:183895298..183904606-chr2:183986062..183992067,16	K562	blood:
10	chr2:183897885..183903273-chr2:183986817..183992325,13	K562	blood:
11	chr2:183989265..183990800-chr2:184010673..184012208,2	MCF-7	breast:
12	chr2:183836718..183838459-chr2:183989290..183991920,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000202141	Chromatin interaction
ENSG00000061676	Chromatin interaction
ENSG00000162999	Chromatin interaction
ENSG00000260742	Chromatin interaction
ENSG00000163002	Chromatin interaction
ENSG00000138434	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1473614	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1473615	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1473616	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675053	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2675054	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2705715	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2705718	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2705719	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2705720	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35142583	0.86[EUR][1000 genomes]
rs55657876	1.00[EUR][1000 genomes]
rs55696219	1.00[EUR][1000 genomes]
rs55707150	1.00[EUR][1000 genomes]
rs55764044	1.00[EUR][1000 genomes]
rs55957340	1.00[EUR][1000 genomes]
rs56152140	0.86[EUR][1000 genomes]
rs56182353	0.88[EUR][1000 genomes]
rs6712479	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6722457	1.00[EUR][1000 genomes]
rs6743323	0.88[EUR][1000 genomes]
rs6750392	0.88[EUR][1000 genomes]
rs72886518	0.83[EUR][1000 genomes]
rs72886527	0.86[EUR][1000 genomes]
rs72886538	0.86[EUR][1000 genomes]
rs72886541	0.86[EUR][1000 genomes]
rs72886545	0.86[EUR][1000 genomes]
rs72886547	0.86[EUR][1000 genomes]
rs72886553	0.86[EUR][1000 genomes]
rs72886557	0.86[EUR][1000 genomes]
rs72886568	0.86[EUR][1000 genomes]
rs72886577	0.86[EUR][1000 genomes]
rs72886596	0.86[EUR][1000 genomes]
rs72886600	0.86[EUR][1000 genomes]
rs72888431	0.86[EUR][1000 genomes]
rs72888449	0.86[EUR][1000 genomes]
rs72888452	0.86[EUR][1000 genomes]
rs72888461	0.86[EUR][1000 genomes]
rs72888464	0.86[EUR][1000 genomes]
rs72888472	0.86[EUR][1000 genomes]
rs72888474	0.86[EUR][1000 genomes]
rs72888478	0.86[EUR][1000 genomes]
rs72888481	0.86[EUR][1000 genomes]
rs72888488	0.86[EUR][1000 genomes]
rs72888489	0.86[EUR][1000 genomes]
rs72890307	0.88[EUR][1000 genomes]
rs72890345	0.97[EUR][1000 genomes]
rs72890349	0.90[EUR][1000 genomes]
rs72890352	0.90[EUR][1000 genomes]
rs72890353	0.90[EUR][1000 genomes]
rs72890370	0.94[EUR][1000 genomes]
rs72890384	0.87[EUR][1000 genomes]
rs72890392	0.92[EUR][1000 genomes]
rs72890398	0.92[EUR][1000 genomes]
rs72892604	0.94[EUR][1000 genomes]
rs72892631	0.94[EUR][1000 genomes]
rs72892638	1.00[EUR][1000 genomes]
rs72892656	1.00[EUR][1000 genomes]
rs72892689	1.00[EUR][1000 genomes]
rs72892694	1.00[EUR][1000 genomes]
rs72892702	1.00[EUR][1000 genomes]
rs72894503	1.00[EUR][1000 genomes]
rs72894513	1.00[EUR][1000 genomes]
rs72894523	1.00[EUR][1000 genomes]
rs72894527	1.00[EUR][1000 genomes]
rs72894533	1.00[EUR][1000 genomes]
rs72894535	1.00[EUR][1000 genomes]
rs72894537	1.00[EUR][1000 genomes]
rs72894539	1.00[EUR][1000 genomes]
rs72894544	1.00[EUR][1000 genomes]
rs72894546	1.00[EUR][1000 genomes]
rs72894570	1.00[EUR][1000 genomes]
rs72894585	1.00[EUR][1000 genomes]
rs72894593	1.00[EUR][1000 genomes]
rs72894596	1.00[EUR][1000 genomes]
rs72896508	1.00[EUR][1000 genomes]
rs72896517	1.00[EUR][1000 genomes]
rs72896518	1.00[EUR][1000 genomes]
rs72896520	1.00[EUR][1000 genomes]
rs72896524	1.00[EUR][1000 genomes]
rs72896528	1.00[EUR][1000 genomes]
rs72896534	1.00[EUR][1000 genomes]
rs72896555	1.00[EUR][1000 genomes]
rs72896556	1.00[EUR][1000 genomes]
rs72896558	1.00[EUR][1000 genomes]
rs72896559	1.00[EUR][1000 genomes]
rs72896560	1.00[EUR][1000 genomes]
rs72896567	1.00[EUR][1000 genomes]
rs72896581	1.00[EUR][1000 genomes]
rs72896586	0.97[EUR][1000 genomes]
rs72896598	1.00[EUR][1000 genomes]
rs72898507	1.00[EUR][1000 genomes]
rs72898512	1.00[EUR][1000 genomes]
rs72898513	1.00[EUR][1000 genomes]
rs72898514	1.00[EUR][1000 genomes]
rs72898516	1.00[EUR][1000 genomes]
rs72898517	1.00[EUR][1000 genomes]
rs72898522	1.00[EUR][1000 genomes]
rs72898525	1.00[EUR][1000 genomes]
rs72898529	1.00[EUR][1000 genomes]
rs72898532	1.00[EUR][1000 genomes]
rs72898535	1.00[EUR][1000 genomes]
rs72898538	0.97[EUR][1000 genomes]
rs72898539	1.00[EUR][1000 genomes]
rs72898542	1.00[EUR][1000 genomes]
rs72898545	0.97[EUR][1000 genomes]
rs72898548	1.00[EUR][1000 genomes]
rs72898555	1.00[EUR][1000 genomes]
rs72898558	1.00[EUR][1000 genomes]
rs72898562	0.97[EUR][1000 genomes]
rs72898566	1.00[EUR][1000 genomes]
rs72898569	1.00[EUR][1000 genomes]
rs72898573	1.00[EUR][1000 genomes]
rs72898574	1.00[EUR][1000 genomes]
rs72898578	0.97[EUR][1000 genomes]
rs72898581	1.00[EUR][1000 genomes]
rs72898584	0.86[EUR][1000 genomes]
rs7562034	1.00[EUR][1000 genomes]
rs7565260	1.00[EUR][1000 genomes]
rs7567370	1.00[EUR][1000 genomes]
rs7577407	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7597417	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	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
8	esv3458824	chr2:183989499-183990322	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
9	esv3458823	chr2:183989552-183990313	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
10	esv3458825	chr2:183989552-183990313	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183988000-183990400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr2:183988200-183990400	Active TSS	Muscle Satellite Cultured Cells	--
3	chr2:183988200-183990400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:183988200-183990400	Active TSS	Brain Angular Gyrus	brain
5	chr2:183988200-183990400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:183988200-183990400	Active TSS	Fetal Brain Female	brain
7	chr2:183988200-183990400	Active TSS	Fetal Intestine Large	intestine
8	chr2:183988200-183990400	Active TSS	Fetal Stomach	stomach
9	chr2:183988200-183990400	Active TSS	HMEC	breast
10	chr2:183988200-183990400	Active TSS	NH-A	brain
11	chr2:183988200-183990600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:183988200-183990600	Active TSS	Ovary	ovary
13	chr2:183988200-183990600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr2:183988200-183990600	Active TSS	Stomach Smooth Muscle	stomach
15	chr2:183988200-183990600	Active TSS	NHDF-Ad	bronchial
16	chr2:183988200-183990800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:183988200-183991000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr2:183988200-183991000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:183988400-183990400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:183988400-183990400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:183988400-183990400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr2:183988400-183990400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr2:183988400-183990400	Active TSS	Thymus	Thymus
24	chr2:183988400-183990400	Active TSS	A549	lung
25	chr2:183988400-183990400	Active TSS	NHLF	lung
26	chr2:183988400-183990600	Active TSS	Fetal Intestine Small	intestine
27	chr2:183988400-183990800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:183988400-183991000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr2:183988400-183991000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:183988400-183991200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr2:183988400-183991200	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr2:183988400-183991600	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr2:183988600-183990400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:183988600-183990400	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr2:183988600-183990400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:183988600-183990400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:183988600-183990400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:183988600-183990400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:183988600-183990400	Active TSS	Fetal Muscle Leg	muscle
40	chr2:183988600-183990400	Active TSS	Fetal Thymus	thymus
41	chr2:183988600-183990400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr2:183988600-183990600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr2:183988600-183990600	Active TSS	GM12878-XiMat	blood
44	chr2:183988800-183990400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:183988800-183990400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:183988800-183990400	Active TSS	Dnd41	blood
47	chr2:183988800-183990400	Active TSS	Hela-S3	cervix
48	chr2:183988800-183990600	Active TSS	H1 Cell Line	embryonic stem cell
49	chr2:183988800-183991200	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr2:183988800-183991600	Active TSS	K562	blood

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