Variant report

Variant	rs6682891
Chromosome Location	chr1:185262181-185262182
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:185260699..185262971-chr1:185285077..185286832,2	MCF-7	breast:
2	chr1:185256140..185258488-chr1:185259752..185262450,2	MCF-7	breast:
3	chr1:185260365..185262791-chr1:185265217..185266838,2	MCF-7	breast:
4	chr1:185251775..185256008-chr1:185261295..185263374,3	K562	blood:
5	chr1:185013678..185016083-chr1:185260446..185263445,2	K562	blood:
6	chr1:185260837..185263424-chr1:185264314..185267191,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IVNS1ABP-3	chr1:185261516-185263504	NONHSAT008415

No data

Variant related genes	Relation type
ENSG00000121481	Chromatin interaction
ENSG00000116679	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10218496	0.80[ASN][1000 genomes]
rs10798002	0.82[EUR][1000 genomes]
rs10798003	1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10798004	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798006	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911700	0.95[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10911706	0.84[ASN][1000 genomes]
rs10911707	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs12041704	0.87[EUR][1000 genomes]
rs12096987	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs12119471	0.82[ASN][1000 genomes]
rs12127840	0.82[ASN][1000 genomes]
rs12135172	0.87[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12135769	0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12136040	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1336753	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1889976	1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2095610	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2152707	0.84[EUR][1000 genomes]
rs2281416	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs2295212	0.84[ASN][1000 genomes]
rs2378909	0.86[EUR][1000 genomes]
rs2378910	0.81[EUR][1000 genomes]
rs2383269	0.81[ASN][1000 genomes]
rs34611062	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57977436	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6424975	0.91[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs6666742	0.87[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6685627	0.81[EUR][1000 genomes]
rs6687774	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs7123	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs7537341	0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7539575	1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7539658	0.87[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7542721	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7550599	0.80[ASN][1000 genomes]
rs883753	0.82[EUR][1000 genomes]
rs997283	0.83[EUR][1000 genomes]
rs9988622	0.84[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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185193800-185263600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:185218800-185269400	Weak transcription	Pancreas	Pancrea
3	chr1:185231000-185263400	Weak transcription	Fetal Kidney	kidney
4	chr1:185235400-185265400	Weak transcription	Brain Substantia Nigra	brain
5	chr1:185236600-185265600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:185239800-185263800	Weak transcription	Brain Anterior Caudate	brain
7	chr1:185240000-185265800	Weak transcription	Fetal Lung	lung
8	chr1:185240200-185267200	Weak transcription	Gastric	stomach
9	chr1:185240400-185268800	Weak transcription	Aorta	Aorta
10	chr1:185240800-185273000	Weak transcription	Spleen	Spleen
11	chr1:185244800-185264800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:185245400-185268800	Weak transcription	Esophagus	oesophagus
13	chr1:185245800-185268400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:185245800-185273000	Weak transcription	Right Ventricle	heart
15	chr1:185246800-185265600	Weak transcription	NHLF	lung
16	chr1:185247600-185267800	Weak transcription	Fetal Stomach	stomach
17	chr1:185248200-185266800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:185248800-185265200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:185249000-185263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:185249200-185262600	Weak transcription	Osteobl	bone
21	chr1:185249200-185263000	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:185249200-185265800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:185250200-185264000	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:185250200-185265400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:185250400-185265600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:185250600-185263000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:185250600-185263800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:185251200-185263200	Weak transcription	Liver	Liver
29	chr1:185251200-185263200	Weak transcription	Dnd41	blood
30	chr1:185251200-185263600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:185251200-185263600	Weak transcription	A549	lung
32	chr1:185251200-185264400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:185251200-185265600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:185251200-185266400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:185251600-185263000	Weak transcription	Brain Germinal Matrix	brain
36	chr1:185252000-185266000	Weak transcription	Thymus	Thymus
37	chr1:185253200-185263200	Weak transcription	NHEK	skin
38	chr1:185254000-185264000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:185254200-185263600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:185254200-185265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:185254400-185262200	Weak transcription	Left Ventricle	heart
42	chr1:185254400-185262800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:185254400-185263600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:185254400-185263800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr1:185254400-185266600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr1:185254400-185267800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:185254600-185262200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:185254600-185262800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr1:185254600-185263000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:185254600-185263600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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