Variant report

Variant	rs57960155
Chromosome Location	chr1:185264003-185264004
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	chr1:185256584..185258275-chr1:185263468..185265157,2	K562	blood:
2	chr1:185262982..185267023-chr1:185274757..185279030,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116679	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10489582	1.00[EUR][1000 genomes]
rs10494582	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10798007	0.87[ASN][1000 genomes]
rs11802738	0.88[AFR][1000 genomes]
rs11804954	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11811583	0.97[AFR][1000 genomes]
rs12026308	1.00[EUR][1000 genomes]
rs12038977	1.00[EUR][1000 genomes]
rs12240005	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12240119	0.81[AMR][1000 genomes]
rs16823862	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16823869	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16823875	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16823884	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16823891	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2025228	1.00[EUR][1000 genomes]
rs3766713	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3766716	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3895195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41377350	1.00[EUR][1000 genomes]
rs57927210	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58031282	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58292874	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58685423	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59035619	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59227355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59611551	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59818790	1.00[EUR][1000 genomes]
rs60064915	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61537994	1.00[EUR][1000 genomes]
rs61573899	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6672580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6679946	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6680028	0.95[AFR][1000 genomes]
rs6687946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698620	1.00[EUR][1000 genomes]
rs7515757	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7516303	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7540216	1.00[EUR][1000 genomes]
rs7555243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs953701	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs953702	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185218800-185269400	Weak transcription	Pancreas	Pancrea
2	chr1:185235400-185265400	Weak transcription	Brain Substantia Nigra	brain
3	chr1:185236600-185265600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:185240000-185265800	Weak transcription	Fetal Lung	lung
5	chr1:185240200-185267200	Weak transcription	Gastric	stomach
6	chr1:185240400-185268800	Weak transcription	Aorta	Aorta
7	chr1:185240800-185273000	Weak transcription	Spleen	Spleen
8	chr1:185244800-185264800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:185245400-185268800	Weak transcription	Esophagus	oesophagus
10	chr1:185245800-185268400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:185245800-185273000	Weak transcription	Right Ventricle	heart
12	chr1:185246800-185265600	Weak transcription	NHLF	lung
13	chr1:185247600-185267800	Weak transcription	Fetal Stomach	stomach
14	chr1:185248200-185266800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:185248800-185265200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:185249200-185265800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:185250200-185265400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:185250400-185265600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:185251200-185264400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:185251200-185265600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:185251200-185266400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:185252000-185266000	Weak transcription	Thymus	Thymus
23	chr1:185254200-185265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:185254400-185266600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:185254400-185267800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:185254600-185266400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:185255000-185268200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:185255200-185265600	Weak transcription	Psoas Muscle	Psoas
29	chr1:185257000-185266000	Weak transcription	Ovary	ovary
30	chr1:185258200-185266000	Weak transcription	Fetal Heart	heart
31	chr1:185258600-185265400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:185258600-185266800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:185258800-185265600	Weak transcription	Fetal Brain Male	brain
34	chr1:185260600-185265200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:185260800-185275200	Weak transcription	Small Intestine	intestine
36	chr1:185261200-185264200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr1:185261200-185267800	Weak transcription	Fetal Intestine Small	intestine
38	chr1:185261400-185264200	Weak transcription	NHDF-Ad	bronchial
39	chr1:185261400-185278800	Strong transcription	HUVEC	blood vessel
40	chr1:185261600-185265200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr1:185261800-185264600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:185261800-185278800	Strong transcription	Fetal Brain Female	brain
43	chr1:185262000-185265200	Strong transcription	Fetal Muscle Leg	muscle
44	chr1:185262000-185265600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:185262000-185279000	Strong transcription	HSMMtube	muscle
46	chr1:185262000-185279400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:185262000-185279800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:185262000-185280400	Strong transcription	Placenta	Placenta
49	chr1:185262000-185280800	Strong transcription	HMEC	breast
50	chr1:185262000-185281000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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