Variant report

Variant	rs72743233
Chromosome Location	chr1:211556996-211556997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211499136..211502907-chr1:211554932..211557555,4	K562	blood:
2	chr1:211556567..211557072-chr15:65596802..65597429,2	Hela-S3	cervix:
3	chr1:211430859..211434419-chr1:211555069..211558654,5	K562	blood:
4	chr1:211540485..211542540-chr1:211554956..211557564,2	K562	blood:

Variant related genes	Relation type
ENSG00000117625	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000082512	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11119741	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11576833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11580728	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12567023	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12569232	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12733930	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12740755	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12750157	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12758491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34160213	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34221813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34418448	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34440485	0.81[AFR][1000 genomes]
rs34535031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35014256	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35332498	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35699165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35771425	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4320839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55961005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60555365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61848984	0.81[AMR][1000 genomes]
rs7554421	0.99[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	esv2762141	chr1:211538685-211603843	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211555000-211557000	Active TSS	Psoas Muscle	Psoas
2	chr1:211555000-211557400	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr1:211555200-211557200	Active TSS	K562	blood
4	chr1:211555400-211557000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr1:211555400-211557000	Active TSS	Fetal Brain Female	brain
6	chr1:211555400-211557000	Active TSS	Fetal Muscle Leg	muscle
7	chr1:211555400-211557000	Active TSS	Right Ventricle	heart
8	chr1:211555400-211557200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:211555400-211557200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:211555600-211557000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr1:211555600-211557000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:211555600-211557000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:211555600-211557000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr1:211555600-211557000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:211555600-211557000	Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr1:211555600-211557000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:211555600-211557000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:211555600-211557000	Active TSS	Brain Cingulate Gyrus	brain
19	chr1:211555600-211557000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr1:211555600-211557000	Active TSS	Fetal Brain Male	brain
21	chr1:211555600-211557000	Active TSS	Fetal Muscle Trunk	muscle
22	chr1:211555600-211557000	Active TSS	Ovary	ovary
23	chr1:211555600-211557000	Active TSS	A549	lung
24	chr1:211555600-211557200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:211555600-211557200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:211555600-211557200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:211555600-211557200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr1:211555600-211557400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:211555800-211557000	Active TSS	H9 Cell Line	embryonic stem cell
30	chr1:211555800-211557000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:211555800-211557000	Active TSS	Left Ventricle	heart
32	chr1:211555800-211557000	Active TSS	Placenta Amnion	Placenta Amnion
33	chr1:211555800-211557000	Active TSS	GM12878-XiMat	blood
34	chr1:211556400-211557000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr1:211556400-211557000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr1:211556400-211557000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr1:211556400-211557000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr1:211556400-211557000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr1:211556400-211557000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr1:211556400-211557000	Flanking Active TSS	Placenta	Placenta
41	chr1:211556400-211557000	Active TSS	Right Atrium	heart
42	chr1:211556400-211557000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr1:211556400-211557000	Flanking Active TSS	HUVEC	blood vessel
44	chr1:211556400-211557200	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr1:211556600-211557000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr1:211556600-211557000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr1:211556600-211557000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:211556600-211557000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr1:211556600-211557000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr1:211556600-211557000	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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