Variant report

Variant	rs35372000
Chromosome Location	chr1:169848505-169848506
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169846979..169849303-chr1:169851464..169854908,3	K562	blood:
2	chr1:169848453..169850292-chr1:169861471..169863318,2	MCF-7	breast:
3	chr1:169846941..169849701-chr1:169857998..169859525,2	MCF-7	breast:
4	chr1:169847953..169852057-chr1:169858381..169863040,5	MCF-7	breast:
5	chr1:169846456..169849390-chr1:169863296..169865489,2	MCF-7	breast:
6	chr1:169846082..169850359-chr1:169859892..169864668,5	K562	blood:
7	chr1:169847146..169850317-chr1:169850331..169854277,4	K562	blood:

Variant related genes	Relation type
ENSG00000000457	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10489171	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12024321	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12025442	0.81[ASN][1000 genomes]
rs12025581	0.81[ASN][1000 genomes]
rs12028435	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12029611	0.81[ASN][1000 genomes]
rs12031046	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12038307	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12042277	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12046689	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12047464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239757	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs16828193	0.82[ASN][1000 genomes]
rs16862714	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16862755	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2272913	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2272914	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28477509	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35296671	0.89[ASN][1000 genomes]
rs3766133	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3766136	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3766149	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3766153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57868479	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58583023	0.81[ASN][1000 genomes]
rs58910844	0.81[ASN][1000 genomes]
rs72637238	0.81[ASN][1000 genomes]
rs72637239	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72637240	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72637241	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72637242	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72637243	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72637244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs730083	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9287096	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9659149	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv1814601	chr1:169782006-169885186	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv1821503	chr1:169782006-169885186	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv1847722	chr1:169782006-169885186	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv2757760	chr1:169782006-169885186	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv2758976	chr1:169782006-169885186	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv428268	chr1:169782006-169885186	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1845220	chr1:169782006-169933886	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169786200-169862400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:169805400-169848800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:169806600-169860000	Weak transcription	Stomach Mucosa	stomach
4	chr1:169814400-169848600	Strong transcription	Duodenum Mucosa	Duodenum
5	chr1:169817800-169848600	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr1:169820600-169848600	Strong transcription	Fetal Lung	lung
7	chr1:169826800-169848600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:169833800-169860200	Weak transcription	HMEC	breast
9	chr1:169841800-169848600	Strong transcription	Fetal Muscle Trunk	muscle
10	chr1:169841800-169848600	Strong transcription	Fetal Muscle Leg	muscle
11	chr1:169842000-169848600	Strong transcription	Fetal Intestine Large	intestine
12	chr1:169842200-169857400	Weak transcription	Fetal Brain Male	brain
13	chr1:169842400-169848800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:169842400-169850800	Weak transcription	Esophagus	oesophagus
15	chr1:169842400-169851000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:169842400-169851000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:169842400-169855600	Weak transcription	Brain Angular Gyrus	brain
18	chr1:169842400-169860000	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:169842600-169854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:169843000-169850200	Weak transcription	Colonic Mucosa	Colon
21	chr1:169843000-169851000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:169843200-169848600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:169843600-169855000	Weak transcription	NHEK	skin
24	chr1:169843800-169848600	Strong transcription	Primary T cells from cord blood	blood
25	chr1:169843800-169850800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:169844000-169851200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:169844000-169851200	Weak transcription	Pancreas	Pancrea
28	chr1:169844000-169860000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:169844400-169857400	Weak transcription	K562	blood
30	chr1:169844800-169851200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:169844800-169854600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:169844800-169855400	Weak transcription	Hela-S3	cervix
33	chr1:169844800-169856000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:169844800-169860600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:169845000-169854000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:169845200-169850800	Weak transcription	Brain Germinal Matrix	brain
37	chr1:169845200-169850800	Weak transcription	Lung	lung
38	chr1:169845200-169851000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:169845200-169851000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:169845200-169853800	Weak transcription	Fetal Kidney	kidney
41	chr1:169845200-169854400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:169845200-169855000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:169845200-169857200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:169845200-169857200	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:169845200-169857400	Weak transcription	HUVEC	blood vessel
46	chr1:169845200-169861400	Weak transcription	Right Ventricle	heart
47	chr1:169845200-169861400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:169845400-169853400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:169845400-169859600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr1:169845400-169860000	Weak transcription	Psoas Muscle	Psoas

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