Variant report

Variant	rs2275432
Chromosome Location	chr1:165861789-165861790
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165598675..165601057-chr1:165860826..165863471,2	K562	blood:

Variant related genes	Relation type
ENSG00000143198	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1061771	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918307	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090859	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1663840	1.00[EUR][1000 genomes]
rs2153261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2153262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2185267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2349108	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2349109	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3748701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790658	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790660	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790661	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790662	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790663	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790666	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790673	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577133	1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666697	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681761	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693108	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73031470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165853400-165864600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:165854000-165869600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:165854200-165862000	Weak transcription	Right Atrium	heart
4	chr1:165854400-165865400	Weak transcription	Fetal Lung	lung
5	chr1:165854600-165883000	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:165855000-165863800	Weak transcription	HUVEC	blood vessel
7	chr1:165856400-165869600	Weak transcription	Fetal Kidney	kidney
8	chr1:165856600-165878800	Weak transcription	Small Intestine	intestine
9	chr1:165857800-165863600	Weak transcription	Stomach Mucosa	stomach
10	chr1:165857800-165865800	Weak transcription	Colonic Mucosa	Colon
11	chr1:165858200-165881200	Strong transcription	Dnd41	blood
12	chr1:165858400-165862400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:165858400-165870000	Strong transcription	K562	blood
14	chr1:165858400-165881000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:165858600-165866800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:165858600-165872000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:165858600-165872600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:165858600-165902400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:165859000-165866200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:165859000-165881000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:165859200-165862400	Strong transcription	Fetal Intestine Small	intestine
22	chr1:165859200-165862600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:165859200-165862800	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr1:165859200-165864600	Strong transcription	NHEK	skin
25	chr1:165859200-165866000	Strong transcription	GM12878-XiMat	blood
26	chr1:165859200-165870400	Strong transcription	Fetal Stomach	stomach
27	chr1:165859200-165871000	Strong transcription	Primary hematopoietic stem cells	blood
28	chr1:165859200-165871200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:165859200-165878000	Strong transcription	Hela-S3	cervix
30	chr1:165859200-165880400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:165859200-165881000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:165859400-165862200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:165859400-165862200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr1:165859400-165862400	Strong transcription	Aorta	Aorta
35	chr1:165859400-165862800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:165859400-165864200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:165859400-165864800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr1:165859400-165866800	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:165859400-165868000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:165859400-165868400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr1:165859400-165868400	Strong transcription	HepG2	liver
42	chr1:165859400-165871200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr1:165859400-165880200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr1:165859400-165880400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr1:165859400-165880600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:165859400-165880600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:165859600-165864200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:165859600-165870200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr1:165859600-165870800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:165859600-165880600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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