Variant report

Variant	rs6665085
Chromosome Location	chr1:224343762-224343763
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	chr1:224339407..224345322-chr1:224346058..224350848,8	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10732277	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10799475	1.00[AMR][1000 genomes]
rs10799485	0.84[AFR][1000 genomes]
rs11804144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1492693	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1810345	1.00[AMR][1000 genomes]
rs2131307	1.00[AMR][1000 genomes]
rs4653562	1.00[AMR][1000 genomes]
rs6426120	1.00[AMR][1000 genomes]
rs6426140	1.00[AMR][1000 genomes]
rs6426161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673438	1.00[AMR][1000 genomes]
rs6684699	1.00[AMR][1000 genomes]
rs7531870	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534791	0.91[AFR][1000 genomes]
rs908792	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs908794	1.00[AMR][1000 genomes]
rs969007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv1792939	chr1:224336636-224351023	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:224316600-224352200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:224320200-224344800	Weak transcription	Gastric	stomach
4	chr1:224320200-224345000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:224320200-224345000	Weak transcription	HUVEC	blood vessel
6	chr1:224320400-224344800	Weak transcription	Small Intestine	intestine
7	chr1:224320400-224345000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:224320400-224345000	Weak transcription	Right Ventricle	heart
9	chr1:224320400-224345200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:224320600-224344000	Weak transcription	Brain Germinal Matrix	brain
11	chr1:224320600-224345000	Weak transcription	Pancreas	Pancrea
12	chr1:224320600-224345200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:224320800-224344200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:224320800-224344800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:224320800-224345200	Weak transcription	Brain Substantia Nigra	brain
16	chr1:224321000-224344200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:224321000-224344800	Weak transcription	NHLF	lung
18	chr1:224321000-224345000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:224321000-224345400	Weak transcription	Fetal Heart	heart
20	chr1:224322000-224345400	Weak transcription	HMEC	breast
21	chr1:224322600-224345000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:224324200-224343800	Weak transcription	HepG2	liver
23	chr1:224325000-224351000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:224326200-224345200	Weak transcription	Colonic Mucosa	Colon
25	chr1:224326800-224344000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:224327000-224345000	Weak transcription	GM12878-XiMat	blood
27	chr1:224327400-224344000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:224327600-224356400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:224327800-224344000	Weak transcription	Left Ventricle	heart
30	chr1:224327800-224345000	Weak transcription	Aorta	Aorta
31	chr1:224327800-224345000	Weak transcription	Esophagus	oesophagus
32	chr1:224328000-224344600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:224328200-224343800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:224328200-224344800	Weak transcription	HSMMtube	muscle
35	chr1:224328200-224345000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:224329600-224345200	Weak transcription	Osteobl	bone
37	chr1:224329800-224345200	Weak transcription	Brain Anterior Caudate	brain
38	chr1:224330600-224345000	Weak transcription	Spleen	Spleen
39	chr1:224331400-224344600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:224332000-224344000	Weak transcription	Ovary	ovary
41	chr1:224332400-224344000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:224332400-224345000	Weak transcription	Fetal Brain Female	brain
43	chr1:224333600-224345000	Weak transcription	Thymus	Thymus
44	chr1:224333800-224345000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:224333800-224345000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:224335800-224349600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr1:224336800-224344000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:224338400-224349200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr1:224339000-224350000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:224339200-224363200	Weak transcription	Brain Angular Gyrus	brain

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