Variant report

Variant	rs2171643
Chromosome Location	chr12:48594345-48594346
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	chr12:48593487..48595723-chr12:48689162..48691231,3	K562	blood:
2	chr12:48366898..48369197-chr12:48592697..48594577,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1074175	0.83[AMR][1000 genomes]
rs10747532	0.88[AMR][1000 genomes]
rs10783235	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10783240	0.88[AMR][1000 genomes]
rs10783241	0.88[AMR][1000 genomes]
rs10875752	0.87[ASN][1000 genomes]
rs10875754	0.86[ASN][1000 genomes]
rs10875759	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10875761	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10875765	0.98[ASN][1000 genomes]
rs10875766	0.92[ASN][1000 genomes]
rs10875780	0.88[AMR][1000 genomes]
rs10875781	0.88[AMR][1000 genomes]
rs10875797	0.81[AMR][1000 genomes]
rs11168434	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11168435	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11168438	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11168439	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11168442	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11168443	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11168444	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11168445	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11168446	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11168447	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11168448	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11168453	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11168454	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11168458	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11168470	0.88[AMR][1000 genomes]
rs11168471	0.88[AMR][1000 genomes]
rs11168472	0.88[AMR][1000 genomes]
rs11168473	0.88[AMR][1000 genomes]
rs11168475	0.85[AMR][1000 genomes]
rs11168485	0.88[AMR][1000 genomes]
rs11168488	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11168494	0.88[AMR][1000 genomes]
rs11168513	0.83[AMR][1000 genomes]
rs11168515	0.83[AMR][1000 genomes]
rs11168541	0.87[AMR][1000 genomes]
rs12422306	0.88[AMR][1000 genomes]
rs12423529	0.88[AMR][1000 genomes]
rs12810029	0.88[AMR][1000 genomes]
rs12815219	0.88[AMR][1000 genomes]
rs12822431	0.83[AMR][1000 genomes]
rs12824405	0.81[AMR][1000 genomes]
rs12827175	0.80[AMR][1000 genomes]
rs12831063	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1387261	0.88[AMR][1000 genomes]
rs1844261	0.88[AMR][1000 genomes]
rs2220459	0.81[AMR][1000 genomes]
rs2291483	0.81[AMR][1000 genomes]
rs2409002	0.86[AMR][1000 genomes]
rs34417262	0.87[AMR][1000 genomes]
rs35267282	0.81[AMR][1000 genomes]
rs56097189	0.94[ASN][1000 genomes]
rs59537300	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6580658	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs66507954	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7132898	0.89[ASN][1000 genomes]
rs7133274	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7136243	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7136782	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7136788	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7136959	0.88[AMR][1000 genomes]
rs716176	0.83[AMR][1000 genomes]
rs73105950	0.99[ASN][1000 genomes]
rs73116262	0.83[AMR][1000 genomes]
rs73304926	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7484942	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7962390	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7962569	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8181670	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv33956	chr12:48565643-48645561	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48592400-48594800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:48592600-48594400	Weak transcription	Spleen	Spleen
3	chr12:48592600-48595200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr12:48592800-48594600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:48592800-48594600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr12:48592800-48594800	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr12:48592800-48595200	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr12:48592800-48596000	Weak transcription	Gastric	stomach
9	chr12:48592800-48596000	Weak transcription	Ovary	ovary
10	chr12:48592800-48600400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:48593000-48594400	Weak transcription	Esophagus	oesophagus
12	chr12:48593000-48594400	Enhancers	Fetal Intestine Small	intestine
13	chr12:48593000-48594600	Enhancers	Fetal Intestine Large	intestine
14	chr12:48593000-48595000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:48593000-48595600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr12:48593000-48595600	Enhancers	Placenta	Placenta
17	chr12:48593000-48596600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:48593200-48594400	Weak transcription	Aorta	Aorta
19	chr12:48593200-48594800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:48593200-48595000	Enhancers	Adipose Nuclei	Adipose
21	chr12:48593200-48595000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:48593200-48595200	Enhancers	Psoas Muscle	Psoas
23	chr12:48593200-48596800	Weak transcription	Brain Substantia Nigra	brain
24	chr12:48593200-48599000	Weak transcription	Brain Angular Gyrus	brain
25	chr12:48593200-48600200	Weak transcription	Right Ventricle	heart
26	chr12:48593400-48594600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr12:48593400-48594600	Enhancers	Fetal Thymus	thymus
28	chr12:48593400-48596000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:48593400-48600800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:48593600-48595200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr12:48593600-48596600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:48593800-48594400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:48593800-48594400	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr12:48593800-48594600	Enhancers	Right Atrium	heart
35	chr12:48593800-48594800	Enhancers	Rectal Smooth Muscle	rectum
36	chr12:48593800-48595200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:48593800-48596000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:48593800-48596000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:48593800-48596000	Weak transcription	Fetal Stomach	stomach
40	chr12:48593800-48596400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:48593800-48596600	Weak transcription	Left Ventricle	heart
42	chr12:48593800-48598400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:48593800-48598400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:48594000-48594400	Weak transcription	Primary B cells from cord blood	blood
45	chr12:48594000-48594400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr12:48594000-48594400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:48594000-48595000	Weak transcription	Small Intestine	intestine
48	chr12:48594000-48595200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr12:48594000-48595200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:48594000-48595200	Enhancers	Brain Anterior Caudate	brain

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