Variant report

Variant	rs67723709
Chromosome Location	chr1:93637777-93637778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93634900..93638789-chr1:93645766..93648751,3	K562	blood:
2	chr1:93635790..93638492-chr1:93639188..93641506,2	K562	blood:

Variant related genes	Relation type
ENSG00000122483	Chromatin interaction
ENSG00000117500	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1064797	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164922	0.81[EUR][1000 genomes]
rs12404947	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12405666	0.97[EUR][1000 genomes]
rs12409621	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12411095	0.81[EUR][1000 genomes]
rs17131703	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17131705	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17131709	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131710	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131718	0.81[EUR][1000 genomes]
rs17131741	0.81[EUR][1000 genomes]
rs17386609	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2749734	0.92[EUR][1000 genomes]
rs2785602	0.92[EUR][1000 genomes]
rs2785605	0.92[EUR][1000 genomes]
rs2815419	0.92[EUR][1000 genomes]
rs2815423	0.92[EUR][1000 genomes]
rs2815424	0.94[EUR][1000 genomes]
rs41286823	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41292137	1.00[EUR][1000 genomes]
rs4240965	0.85[EUR][1000 genomes]
rs4347219	0.97[EUR][1000 genomes]
rs475120	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs488345	0.94[EUR][1000 genomes]
rs495580	0.94[EUR][1000 genomes]
rs500349	0.94[EUR][1000 genomes]
rs502651	0.83[EUR][1000 genomes]
rs519319	0.94[EUR][1000 genomes]
rs539544	0.92[EUR][1000 genomes]
rs548751	0.94[EUR][1000 genomes]
rs571439	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs574687	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57992499	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580828	0.92[EUR][1000 genomes]
rs60013975	0.81[EUR][1000 genomes]
rs60458375	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61101021	0.81[EUR][1000 genomes]
rs61433067	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6604042	0.95[EUR][1000 genomes]
rs66501175	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66804824	0.81[EUR][1000 genomes]
rs6689007	0.94[EUR][1000 genomes]
rs67002303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703169	0.91[EUR][1000 genomes]
rs67262037	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67337461	1.00[EUR][1000 genomes]
rs67395827	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67711178	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67768103	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67992203	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67998457	0.81[EUR][1000 genomes]
rs72715364	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72715394	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72717318	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72717334	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72717337	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72717346	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72717352	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717354	0.97[EUR][1000 genomes]
rs72717374	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72719120	1.00[EUR][1000 genomes]
rs72955366	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72955388	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72959223	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72959288	1.00[EUR][1000 genomes]
rs72959296	0.97[EUR][1000 genomes]
rs797594	0.84[EUR][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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93580200-93643600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:93582400-93642800	Weak transcription	Gastric	stomach
3	chr1:93585800-93642200	Weak transcription	Esophagus	oesophagus
4	chr1:93601000-93643600	Weak transcription	HSMMtube	muscle
5	chr1:93606000-93644600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:93611800-93644600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:93615600-93643200	Weak transcription	Fetal Kidney	kidney
8	chr1:93621400-93637800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:93621400-93640000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:93621400-93643000	Weak transcription	HMEC	breast
11	chr1:93621400-93643800	Weak transcription	Colonic Mucosa	Colon
12	chr1:93621600-93641400	Weak transcription	NHEK	skin
13	chr1:93624000-93643400	Weak transcription	NH-A	brain
14	chr1:93624000-93643600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:93624400-93643600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:93624800-93641600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:93624800-93643600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:93624800-93643600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:93625000-93640000	Weak transcription	K562	blood
20	chr1:93625000-93641200	Weak transcription	HSMM	muscle
21	chr1:93625800-93640200	Weak transcription	HUVEC	blood vessel
22	chr1:93625800-93641600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:93625800-93643400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:93626000-93641200	Weak transcription	NHDF-Ad	bronchial
25	chr1:93627400-93638000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:93630400-93641600	Weak transcription	Right Atrium	heart
27	chr1:93630800-93642000	Weak transcription	Left Ventricle	heart
28	chr1:93632800-93639600	Weak transcription	Psoas Muscle	Psoas
29	chr1:93632800-93640000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:93633400-93643600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:93633600-93638800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:93634200-93642000	Weak transcription	Brain Anterior Caudate	brain
33	chr1:93634400-93640200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:93634600-93643000	Weak transcription	Right Ventricle	heart
35	chr1:93634800-93639400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr1:93636200-93640000	Weak transcription	Thymus	Thymus
37	chr1:93636200-93642200	Weak transcription	Lung	lung
38	chr1:93636200-93642800	Weak transcription	Fetal Brain Female	brain
39	chr1:93636200-93642800	Weak transcription	Pancreas	Pancrea
40	chr1:93636200-93643200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:93636200-93643400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:93636200-93644000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:93636200-93644800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:93636400-93637800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:93636400-93637800	Enhancers	Primary B cells from peripheral blood	blood
46	chr1:93636400-93638000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:93636400-93640200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:93636400-93642000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:93636400-93643800	Weak transcription	Fetal Stomach	stomach
50	chr1:93636600-93641600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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