Variant report

Variant	rs12468218
Chromosome Location	chr2:172781690-172781691
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172780580..172784087-chr2:172788193..172790516,4	K562	blood:
2	chr2:172779934..172782820-chr2:172786897..172788575,2	MCF-7	breast:
3	chr2:172778049..172781927-chr2:172965294..172970550,9	K562	blood:
4	chr2:172777989..172784973-chr2:172962042..172968003,11	K562	blood:
5	chr2:172770788..172773001-chr2:172780545..172783443,2	K562	blood:
6	chr2:172749385..172752362-chr2:172779098..172783248,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115840	Chromatin interaction
ENSG00000236651	Chromatin interaction
ENSG00000115844	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10166352	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10177679	0.84[ASN][1000 genomes]
rs10188587	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10439296	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10930496	0.83[AMR][1000 genomes]
rs10930498	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930500	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10930501	0.80[ASN][1000 genomes]
rs11676484	0.80[ASN][1000 genomes]
rs11677573	0.84[ASN][1000 genomes]
rs11692418	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11695887	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11883977	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12467010	0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12473516	0.80[ASN][1000 genomes]
rs12478215	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12617265	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12619137	0.82[AMR][1000 genomes]
rs13017988	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13018515	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13399316	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1443700	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1982288	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2028670	0.80[ASN][1000 genomes]
rs2028671	0.80[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2028672	0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2028673	0.84[AFR][1000 genomes]
rs2028674	0.84[AFR][1000 genomes]
rs2138873	0.82[AMR][1000 genomes]
rs2357207	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2357208	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs28372952	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3791343	0.80[ASN][1000 genomes]
rs4072279	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324292	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4668416	0.82[AMR][1000 genomes]
rs4668419	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59853867	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60706248	0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6433317	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6433318	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6707142	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6708365	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6711813	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6714214	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6726050	0.83[AFR][1000 genomes]
rs6726991	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6736159	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6740705	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6742905	0.84[ASN][1000 genomes]
rs6757680	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6758494	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7340516	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7371503	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7579509	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580132	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588025	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7594478	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7597525	0.84[ASN][1000 genomes]
rs925881	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172779600-172784600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:172779800-172785000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:172779800-172787200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:172779800-172828400	Weak transcription	Aorta	Aorta
5	chr2:172780000-172782400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:172780000-172789000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:172780000-172791000	Weak transcription	Esophagus	oesophagus
8	chr2:172780000-172812800	Weak transcription	Lung	lung
9	chr2:172780000-172829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:172780200-172782000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:172780200-172782000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:172780200-172782200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:172780200-172782400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:172780200-172786200	Weak transcription	Ovary	ovary
15	chr2:172780200-172786800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:172780200-172786800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:172780200-172787600	Weak transcription	Pancreas	Pancrea
18	chr2:172780200-172789800	Weak transcription	Colonic Mucosa	Colon
19	chr2:172780200-172792800	Weak transcription	Spleen	Spleen
20	chr2:172780200-172795000	Weak transcription	Psoas Muscle	Psoas
21	chr2:172780200-172795400	Weak transcription	Gastric	stomach
22	chr2:172780200-172822200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:172780400-172781800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:172780400-172782000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:172780400-172782200	Enhancers	Primary T cells from cord blood	blood
27	chr2:172780400-172782400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr2:172780400-172782600	Weak transcription	Placenta	Placenta
29	chr2:172780400-172783000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr2:172780400-172783000	Weak transcription	Fetal Intestine Small	intestine
31	chr2:172780400-172783200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:172780400-172784800	Weak transcription	Fetal Brain Female	brain
33	chr2:172780400-172785400	Weak transcription	Brain Substantia Nigra	brain
34	chr2:172780400-172787000	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:172780400-172787200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:172780400-172796600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:172780400-172820600	Weak transcription	Brain Angular Gyrus	brain
38	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:172780600-172782000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:172780600-172782200	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:172780600-172782200	Weak transcription	Stomach Mucosa	stomach
42	chr2:172780600-172782400	Weak transcription	Fetal Stomach	stomach
43	chr2:172780600-172782600	Weak transcription	Adipose Nuclei	Adipose
44	chr2:172780600-172783000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:172780600-172783200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:172780600-172783200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:172780600-172783200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:172780600-172783200	Weak transcription	Osteobl	bone
49	chr2:172780600-172783400	Weak transcription	HMEC	breast
50	chr2:172780600-172784000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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