Variant report

Variant	rs4258258
Chromosome Location	chr1:85714398-85714399
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	chr1:85712540..85714788-chr1:85715420..85717609,2	K562	blood:
2	chr1:85708208..85712302-chr1:85713167..85718221,7	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1060843	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11161564	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161581	0.96[ASN][1000 genomes]
rs11161583	0.92[ASN][1000 genomes]
rs12065528	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12066982	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12068389	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12068788	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12084232	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12086970	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12087340	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12563515	0.96[ASN][1000 genomes]
rs12726649	0.96[ASN][1000 genomes]
rs12743302	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744565	0.96[ASN][1000 genomes]
rs12746169	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17124345	1.00[ASN][1000 genomes]
rs34151221	0.84[EUR][1000 genomes]
rs35204975	0.87[EUR][1000 genomes]
rs35486093	1.00[ASN][1000 genomes]
rs35783363	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35798604	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36116171	0.96[ASN][1000 genomes]
rs4074156	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6693229	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9887811	0.94[ASN][1000 genomes]
rs9887812	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9887879	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85706000-85716000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:85706600-85716000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:85706600-85716000	Weak transcription	Fetal Intestine Large	intestine
4	chr1:85706600-85716400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:85706800-85716000	Weak transcription	Primary T cells from cord blood	blood
6	chr1:85706800-85718400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:85707000-85715600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:85707000-85716400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:85707000-85719400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:85707000-85719600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:85707000-85721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:85707000-85722800	Weak transcription	HepG2	liver
13	chr1:85707000-85723000	Weak transcription	Stomach Mucosa	stomach
14	chr1:85707200-85715800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:85707200-85716000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:85707200-85716200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr1:85707800-85724400	Weak transcription	Lung	lung
18	chr1:85709800-85724200	Weak transcription	Colonic Mucosa	Colon
19	chr1:85710400-85714400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:85710400-85714400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:85710400-85721400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:85710400-85724000	Weak transcription	Ovary	ovary
23	chr1:85710400-85724000	Weak transcription	Right Ventricle	heart
24	chr1:85710600-85716200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:85710600-85716200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:85710600-85716600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:85710600-85717000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:85710600-85719800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:85710600-85722600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:85710600-85723800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:85710800-85714600	Weak transcription	Fetal Thymus	thymus
32	chr1:85710800-85715800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:85710800-85716800	Weak transcription	Adipose Nuclei	Adipose
34	chr1:85710800-85717000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:85710800-85717200	Weak transcription	HUVEC	blood vessel
36	chr1:85710800-85717400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:85710800-85717400	Weak transcription	NH-A	brain
38	chr1:85710800-85718200	Weak transcription	Psoas Muscle	Psoas
39	chr1:85710800-85724000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:85710800-85724200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:85710800-85724400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:85710800-85724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:85711200-85715800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:85711400-85715600	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:85711400-85717000	Weak transcription	Fetal Lung	lung
46	chr1:85711400-85717000	Weak transcription	Left Ventricle	heart
47	chr1:85711400-85718200	Weak transcription	Hela-S3	cervix
48	chr1:85711400-85719800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:85711600-85715600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:85711600-85716600	Weak transcription	NHEK	skin

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