Variant report

Variant	rs35448601
Chromosome Location	chr1:169257876-169257877
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1024340	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1024341	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10800423	0.90[ASN][1000 genomes]
rs1080268	0.82[EUR][1000 genomes]
rs1208373	0.86[AMR][1000 genomes]
rs12117884	0.97[ASN][1000 genomes]
rs12121185	0.97[ASN][1000 genomes]
rs12121994	1.00[ASN][1000 genomes]
rs12143193	0.98[ASN][1000 genomes]
rs12145146	1.00[ASN][1000 genomes]
rs12145226	1.00[ASN][1000 genomes]
rs12725542	0.81[AMR][1000 genomes]
rs12725912	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12725978	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12733001	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12733626	1.00[ASN][1000 genomes]
rs12735021	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12735250	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12735330	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12736886	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12738167	1.00[ASN][1000 genomes]
rs12739337	0.99[ASN][1000 genomes]
rs12743782	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744668	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12745541	0.94[ASN][1000 genomes]
rs12748624	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12751379	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12751929	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12756556	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12757242	0.82[EUR][1000 genomes]
rs12757669	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12759617	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12760335	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1533519	0.82[EUR][1000 genomes]
rs16828165	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16862051	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16862081	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2012757	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2037249	0.82[EUR][1000 genomes]
rs2066001	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2152980	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2154125	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2187963	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2187964	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2271762	0.82[EUR][1000 genomes]
rs2300160	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2420011	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2420014	0.92[ASN][1000 genomes]
rs2420016	1.00[ASN][1000 genomes]
rs3213586	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3213587	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34016668	0.85[ASN][1000 genomes]
rs34032351	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34127028	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34246691	0.82[EUR][1000 genomes]
rs34276437	0.80[AFR][1000 genomes]
rs34469836	0.87[ASN][1000 genomes]
rs34577710	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34640648	0.82[EUR][1000 genomes]
rs34651513	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34689938	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34693497	0.82[AFR][1000 genomes]
rs34750504	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34758802	0.85[AMR][1000 genomes]
rs34848249	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34930817	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35171152	0.82[EUR][1000 genomes]
rs35232870	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35244822	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35272114	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35352275	0.81[AMR][1000 genomes]
rs35375125	0.95[ASN][1000 genomes]
rs35406371	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35435858	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35493809	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35639586	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35653716	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35680826	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36013240	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs36023090	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36040633	0.82[EUR][1000 genomes]
rs36154866	0.97[ASN][1000 genomes]
rs36179730	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3753299	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3766075	0.82[EUR][1000 genomes]
rs3766076	0.82[EUR][1000 genomes]
rs3766078	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3766083	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3766084	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3766085	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3766086	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3766090	0.97[ASN][1000 genomes]
rs3766097	0.82[EUR][1000 genomes]
rs4140538	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4140539	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41442344	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4284298	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57913822	0.88[AFR][1000 genomes]
rs58809384	0.82[EUR][1000 genomes]
rs60110368	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60378653	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61515530	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66512221	0.82[EUR][1000 genomes]
rs6675220	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6686677	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67214318	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67317028	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67779898	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs68012439	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs68023805	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71523143	0.92[ASN][1000 genomes]
rs71635619	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs718031	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72637226	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72637227	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72637228	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72637229	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7418266	0.85[AMR][1000 genomes]
rs7514582	0.81[AMR][1000 genomes]
rs7528751	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7538158	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs929133	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv429913	chr1:169177019-169296744	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1010010	chr1:169189586-169347545	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1012919	chr1:169200982-169324750	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1000254	chr1:169203554-169271792	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1009170	chr1:169207940-169270995	Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv508637	chr1:169214920-169268078	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1004674	chr1:169233962-169271792	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169251400-169271400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:169252800-169278600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:169252800-169278800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:169253000-169264800	Weak transcription	Primary T cells from cord blood	blood
5	chr1:169253400-169270800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:169253600-169280600	Weak transcription	Fetal Kidney	kidney
7	chr1:169253800-169258200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:169254000-169274800	Weak transcription	Ovary	ovary
9	chr1:169254400-169263600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:169254800-169268600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:169254800-169281000	Weak transcription	Dnd41	blood
12	chr1:169255800-169264800	Weak transcription	Aorta	Aorta
13	chr1:169256200-169258000	Enhancers	HSMM	muscle
14	chr1:169256200-169258600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:169256200-169258800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:169256200-169259200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:169256400-169258800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:169256400-169258800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:169256400-169258800	Enhancers	HMEC	breast
20	chr1:169256400-169258800	Enhancers	NHEK	skin
21	chr1:169256600-169258200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:169256600-169259600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:169256800-169260200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:169256800-169271600	Weak transcription	Primary B cells from cord blood	blood
25	chr1:169256800-169278600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:169257400-169258600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:169257400-169258600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:169257400-169258800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:169257600-169268600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:169257600-169284800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:169257800-169258200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:169257800-169258800	Enhancers	A549	lung
33	chr1:169257800-169263400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:169257800-169281200	Weak transcription	Muscle Satellite Cultured Cells	--

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