Variant report

Variant	rs2099028
Chromosome Location	chr12:30866888-30866889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30860811..30862985-chr12:30865141..30866984,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10743725	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10771749	0.84[EUR][1000 genomes]
rs10771763	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843794	0.82[ASN][1000 genomes]
rs10843797	1.00[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10843798	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10843801	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10843803	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10843805	1.00[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11051006	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11051009	0.88[ASN][1000 genomes]
rs11051023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051026	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11051030	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051034	1.00[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051044	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610452	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306961	1.00[ASN][1000 genomes]
rs12308822	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310942	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315446	0.81[AMR][1000 genomes]
rs12371883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12372023	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3888018	0.86[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3906774	0.82[ASN][1000 genomes]
rs59483134	0.85[ASN][1000 genomes]
rs6487924	1.00[CHB][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[ASN][1000 genomes]
rs6487929	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487931	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7135005	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302757	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303665	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306125	0.85[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7307432	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308638	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310127	0.83[AMR][1000 genomes]
rs7315859	0.88[ASN][1000 genomes]
rs73292874	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs74083892	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7963438	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7963524	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7968669	1.00[ASN][1000 genomes]
rs7968760	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9651844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30849200-30881600	Weak transcription	Right Ventricle	heart
2	chr12:30849600-30881200	Weak transcription	Psoas Muscle	Psoas
3	chr12:30849600-30881600	Weak transcription	Aorta	Aorta
4	chr12:30849800-30867000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:30853800-30867000	Weak transcription	Esophagus	oesophagus
6	chr12:30854600-30867000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:30857400-30881800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:30858000-30891800	Weak transcription	Fetal Heart	heart
9	chr12:30858800-30868600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:30859000-30869400	Weak transcription	K562	blood
11	chr12:30859200-30892200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:30859400-30883400	Weak transcription	Colonic Mucosa	Colon
13	chr12:30859800-30877000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:30860200-30871200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:30860400-30881600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:30861000-30879000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:30861200-30871400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:30861200-30875000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:30861400-30869800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:30861400-30872600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:30861400-30881600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:30861400-30885000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:30861400-30906200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:30861400-30906600	Weak transcription	Small Intestine	intestine
25	chr12:30861800-30869800	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:30861800-30870000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:30861800-30872000	Strong transcription	HSMM	muscle
28	chr12:30861800-30872600	Strong transcription	Fetal Brain Female	brain
29	chr12:30861800-30872800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr12:30861800-30877800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:30861800-30879000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr12:30861800-30884600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:30861800-30894600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:30861800-30895200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:30862000-30869600	Strong transcription	Fetal Muscle Leg	muscle
36	chr12:30862000-30871800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:30862000-30872200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:30862000-30872600	Strong transcription	Liver	Liver
39	chr12:30862000-30877800	Strong transcription	HMEC	breast
40	chr12:30862000-30878800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:30862000-30879000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:30862200-30872200	Strong transcription	Brain Anterior Caudate	brain
43	chr12:30862200-30879000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:30862200-30895000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:30862400-30871000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:30862400-30871200	Strong transcription	Adipose Nuclei	Adipose
47	chr12:30862400-30872000	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr12:30862400-30872400	Strong transcription	Primary T cells from cord blood	blood
49	chr12:30862400-30876600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:30862400-30895600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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