Variant report

Variant	rs1476111
Chromosome Location	chr2:172308610-172308611
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172289123..172294777-chr2:172305458..172308924,10	K562	blood:
2	chr2:172289123..172292836-chr2:172306272..172310763,6	K562	blood:

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction
ENSG00000123600	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10490604	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10515933	0.80[JPT][hapmap]
rs10930476	0.86[ASN][1000 genomes]
rs13384194	0.92[ASN][1000 genomes]
rs17220419	0.80[JPT][hapmap]
rs17220608	0.81[JPT][hapmap]
rs17220657	0.81[JPT][hapmap]
rs17220734	0.80[JPT][hapmap]
rs17221346	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17286415	0.80[JPT][hapmap]
rs1861899	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28420126	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28742013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731982	0.80[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3731983	0.80[JPT][hapmap]
rs4496302	0.80[EUR][1000 genomes]
rs4522571	0.80[JPT][hapmap]
rs4667689	0.84[ASN][1000 genomes]
rs4668385	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55999882	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57099324	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58182652	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs58267868	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs58536060	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62183492	0.81[ASN][1000 genomes]
rs62183504	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs62183537	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs62183540	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6433290	0.81[JPT][hapmap]
rs6433291	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433292	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs6713612	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs6718740	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6741806	0.81[JPT][hapmap]
rs6743290	0.83[ASN][1000 genomes]
rs6751956	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7572334	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7576894	0.81[JPT][hapmap]
rs7594714	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7600478	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7606658	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9789380	0.94[AFR][1000 genomes];0.94[ASN][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291000-172319800	Weak transcription	Stomach Mucosa	stomach
2	chr2:172291600-172311800	Weak transcription	Fetal Brain Male	brain
3	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:172292000-172312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:172292600-172311600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:172292600-172312000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:172292600-172317600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:172292600-172320400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:172293000-172318600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:172293200-172311800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:172293200-172319400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:172293200-172319400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:172295000-172309600	Strong transcription	HepG2	liver
15	chr2:172295200-172309400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:172296600-172309600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:172297000-172313000	Weak transcription	A549	lung
18	chr2:172297000-172314000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:172298200-172310400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:172298200-172314200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:172298200-172326600	Weak transcription	Colonic Mucosa	Colon
22	chr2:172298400-172311800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:172298400-172314200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:172298400-172325400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:172298400-172325600	Weak transcription	Hela-S3	cervix
26	chr2:172298400-172326200	Weak transcription	NHEK	skin
27	chr2:172298400-172334400	Weak transcription	Small Intestine	intestine
28	chr2:172298400-172339400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:172298600-172341400	Weak transcription	NHLF	lung
30	chr2:172299400-172325400	Weak transcription	Gastric	stomach
31	chr2:172300600-172338600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:172301600-172310600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:172303400-172310600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:172303600-172310200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:172303600-172310600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:172303600-172316200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:172303600-172317000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr2:172303800-172309600	Strong transcription	Adipose Nuclei	Adipose
39	chr2:172303800-172311600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:172303800-172312200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:172303800-172317400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:172304000-172309600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr2:172304000-172309800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:172304000-172309800	Strong transcription	Fetal Intestine Large	intestine
45	chr2:172304000-172309800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:172304000-172312000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:172304000-172312200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr2:172304000-172312400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:172304000-172312600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:172304200-172309400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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