Variant report

Variant	rs17018532
Chromosome Location	chr1:212282546-212282547
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212278390..212281582-chr1:212282096..212285303,4	K562	blood:
2	chr1:212280661..212282639-chr1:212303880..212306262,2	K562	blood:
3	chr1:212208375..212210144-chr1:212281099..212283338,2	K562	blood:

Variant related genes	Relation type
ENSG00000143493	Chromatin interaction
ENSG00000143476	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11119825	1.00[JPT][hapmap]
rs11119826	1.00[JPT][hapmap]
rs11119827	1.00[JPT][hapmap]
rs11119844	0.94[ASN][1000 genomes]
rs12120122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12120150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12121167	1.00[CEU][hapmap]
rs12122247	1.00[JPT][hapmap]
rs12122488	1.00[JPT][hapmap]
rs12125159	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12126761	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12127488	0.83[ASN][1000 genomes]
rs12128256	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12128609	1.00[CEU][hapmap]
rs12130548	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12131060	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12131750	1.00[CHB][hapmap]
rs12132233	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12132954	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12139237	1.00[CEU][hapmap]
rs12144471	0.91[ASN][1000 genomes]
rs12145020	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12146085	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12567425	0.94[ASN][1000 genomes]
rs12723988	1.00[JPT][hapmap]
rs12735358	0.82[JPT][hapmap]
rs12744135	0.94[ASN][1000 genomes]
rs12747761	1.00[JPT][hapmap]
rs12755278	0.94[ASN][1000 genomes]
rs17018334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17018421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1965955	0.94[ASN][1000 genomes]
rs2200944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34192465	0.94[ASN][1000 genomes]
rs34841259	0.91[ASN][1000 genomes]
rs3762453	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3795836	1.00[JPT][hapmap]
rs72750369	0.91[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212241600-212284600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:212262000-212283000	Weak transcription	NH-A	brain
3	chr1:212262000-212284400	Weak transcription	Osteobl	bone
4	chr1:212262200-212289200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:212267200-212287000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:212268600-212282800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:212271600-212287000	Weak transcription	Primary B cells from cord blood	blood
8	chr1:212272000-212285400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:212272000-212285800	Weak transcription	Lung	lung
10	chr1:212272000-212291000	Weak transcription	Left Ventricle	heart
11	chr1:212272200-212282800	Weak transcription	Placenta	Placenta
12	chr1:212274200-212287000	Weak transcription	HMEC	breast
13	chr1:212274200-212301600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:212274400-212284200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:212274400-212308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:212274600-212283600	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:212275400-212282600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:212275400-212286600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:212276800-212283000	Enhancers	Fetal Intestine Small	intestine
20	chr1:212277000-212298200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:212277800-212283200	Weak transcription	A549	lung
22	chr1:212277800-212285000	Enhancers	Fetal Lung	lung
23	chr1:212278800-212284200	Weak transcription	Psoas Muscle	Psoas
24	chr1:212279000-212283800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:212279000-212291800	Weak transcription	HepG2	liver
26	chr1:212279200-212285600	Strong transcription	Hela-S3	cervix
27	chr1:212279600-212283200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:212279600-212284000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:212279800-212286600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:212279800-212287400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:212280000-212283200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:212280000-212299600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:212280200-212284000	Enhancers	Primary hematopoietic stem cells	blood
34	chr1:212280400-212283000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:212280400-212284400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:212280400-212285400	Enhancers	Thymus	Thymus
37	chr1:212280600-212284400	Enhancers	Stomach Mucosa	stomach
38	chr1:212280800-212282600	Strong transcription	GM12878-XiMat	blood
39	chr1:212280800-212283400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr1:212280800-212284400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:212281000-212283000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr1:212281000-212283800	Enhancers	Duodenum Mucosa	Duodenum
43	chr1:212281200-212283200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:212281200-212285200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:212281200-212285400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:212281200-212285800	Enhancers	Primary T cells from cord blood	blood
47	chr1:212281200-212308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:212281400-212285000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:212281400-212287200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:212281600-212284000	Weak transcription	Pancreas	Pancrea

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