Variant report

Variant	rs72861450
Chromosome Location	chr1:10167228-10167229
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10127541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11805696	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11806378	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13373975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13374214	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57314761	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57841357	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58900002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59570346	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60413811	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60495933	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6684466	1.00[AMR][1000 genomes]
rs6702986	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532028	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532599	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7535103	1.00[AMR][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	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10145400-10189600	Weak transcription	Psoas Muscle	Psoas
2	chr1:10145800-10197000	Weak transcription	Stomach Mucosa	stomach
3	chr1:10153800-10172200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:10154800-10172000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:10154800-10183000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:10155000-10171400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr1:10158400-10178000	Strong transcription	Primary T cells from cord blood	blood
8	chr1:10158600-10174000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:10160200-10175800	Strong transcription	Fetal Stomach	stomach
10	chr1:10160400-10167600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:10160400-10167800	Strong transcription	Fetal Muscle Leg	muscle
12	chr1:10160400-10168000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:10160400-10169600	Strong transcription	Dnd41	blood
14	chr1:10160400-10171400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:10160600-10171800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:10160800-10168600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:10161000-10167400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:10161000-10167400	Strong transcription	NHDF-Ad	bronchial
19	chr1:10161000-10167600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:10161000-10167600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:10161000-10168000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:10161000-10169000	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:10161000-10169200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:10161000-10169200	Strong transcription	K562	blood
25	chr1:10161000-10169400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:10161000-10169600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:10161000-10169600	Strong transcription	Fetal Lung	lung
28	chr1:10161000-10169800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:10161200-10167600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:10161200-10169000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:10161200-10169800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr1:10161200-10171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:10161200-10172000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:10161800-10169800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr1:10162400-10168200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:10162400-10171800	Strong transcription	Liver	Liver
37	chr1:10162600-10167400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:10162600-10167400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:10162600-10167400	Strong transcription	HepG2	liver
40	chr1:10162600-10169200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:10162600-10169200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:10162600-10169600	Strong transcription	Thymus	Thymus
43	chr1:10162800-10167600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:10162800-10171600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:10162800-10171600	Strong transcription	Primary B cells from cord blood	blood
46	chr1:10162800-10171800	Strong transcription	Placenta	Placenta
47	chr1:10163000-10167400	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr1:10163000-10167600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:10163000-10167600	Strong transcription	Fetal Kidney	kidney
50	chr1:10163000-10167600	Strong transcription	HSMM	muscle

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