Variant report

Variant	rs1473616
Chromosome Location	chr2:183989678-183989679
allele	G/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 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	chr17:7475914..7477152-chr2:183988526..183989842,3	Hela-S3	cervix:
12	chr2:183902160..183905711-chr2:183988105..183989833,3	MCF-7	breast:
13	chr2:183989265..183990800-chr2:184010673..184012208,2	MCF-7	breast:
14	chr2:183836718..183838459-chr2:183989290..183991920,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction
ENSG00000061676	Chromatin interaction
ENSG00000163002	Chromatin interaction
ENSG00000202141	Chromatin interaction
ENSG00000260742	Chromatin interaction
ENSG00000161960	Chromatin interaction
ENSG00000162999	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs1473614	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1473615	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1606993	1.00[YRI][hapmap]
rs2675053	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2675054	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675055	1.00[YRI][hapmap]
rs2675056	1.00[YRI][hapmap]
rs2705712	0.82[YRI][hapmap]
rs2705713	1.00[YRI][hapmap]
rs2705715	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2705718	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2705719	1.00[CEU][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2705720	1.00[CEU][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2705721	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:12 , 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	esv3356302	chr2:183962495-183989877	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
9	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
10	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
11	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
12	esv16759	chr2:183989673-183990191	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183987800-183990200	Active TSS	Psoas Muscle	Psoas
2	chr2:183988000-183989800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr2:183988000-183990400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr2:183988200-183989800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr2:183988200-183989800	Active TSS	Colon Smooth Muscle	Colon
6	chr2:183988200-183989800	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr2:183988200-183990000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:183988200-183990000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:183988200-183990000	Active TSS	Brain Anterior Caudate	brain
10	chr2:183988200-183990000	Active TSS	Rectal Smooth Muscle	rectum
11	chr2:183988200-183990000	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr2:183988200-183990000	Active TSS	NHEK	skin
13	chr2:183988200-183990200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:183988200-183990200	Active TSS	Right Atrium	heart
15	chr2:183988200-183990200	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr2:183988200-183990200	Active TSS	HSMMtube	muscle
17	chr2:183988200-183990400	Active TSS	Muscle Satellite Cultured Cells	--
18	chr2:183988200-183990400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:183988200-183990400	Active TSS	Brain Angular Gyrus	brain
20	chr2:183988200-183990400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:183988200-183990400	Active TSS	Fetal Brain Female	brain
22	chr2:183988200-183990400	Active TSS	Fetal Intestine Large	intestine
23	chr2:183988200-183990400	Active TSS	Fetal Stomach	stomach
24	chr2:183988200-183990400	Active TSS	HMEC	breast
25	chr2:183988200-183990400	Active TSS	NH-A	brain
26	chr2:183988200-183990600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:183988200-183990600	Active TSS	Ovary	ovary
28	chr2:183988200-183990600	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr2:183988200-183990600	Active TSS	Stomach Smooth Muscle	stomach
30	chr2:183988200-183990600	Active TSS	NHDF-Ad	bronchial
31	chr2:183988200-183990800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:183988200-183991000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr2:183988200-183991000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:183988400-183989800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:183988400-183989800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:183988400-183989800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr2:183988400-183989800	Active TSS	Gastric	stomach
38	chr2:183988400-183989800	Active TSS	Pancreas	Pancrea
39	chr2:183988400-183989800	Active TSS	Small Intestine	intestine
40	chr2:183988400-183990000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:183988400-183990000	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr2:183988400-183990000	Active TSS	Aorta	Aorta
43	chr2:183988400-183990000	Active TSS	Brain Hippocampus Middle	brain
44	chr2:183988400-183990000	Active TSS	Brain Substantia Nigra	brain
45	chr2:183988400-183990000	Active TSS	Esophagus	oesophagus
46	chr2:183988400-183990000	Active TSS	Fetal Kidney	kidney
47	chr2:183988400-183990000	Active TSS	Left Ventricle	heart
48	chr2:183988400-183990000	Active TSS	Lung	lung
49	chr2:183988400-183990000	Active TSS	Placenta Amnion	Placenta Amnion
50	chr2:183988400-183990200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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