Variant report

Variant	rs10754219
Chromosome Location	chr1:197165186-197165187
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:196701976..196704900-chr1:197163664..197165558,2	K562	blood:
2	chr1:197158202..197161289-chr1:197163593..197166561,4	MCF-7	breast:
3	chr1:197114701..197116703-chr1:197164093..197167028,2	MCF-7	breast:
4	chr1:197161517..197163826-chr1:197164890..197167674,2	K562	blood:
5	chr1:197159273..197161304-chr1:197164955..197167252,3	K562	blood:
6	chr1:197114016..197115684-chr1:197163598..197165339,2	K562	blood:
7	chr1:197165132..197167397-chr1:197181290..197183417,2	K562	blood:
8	chr1:197110180..197113762-chr1:197163844..197167381,3	K562	blood:
9	chr1:197114016..197117152-chr1:197163839..197167436,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000066279	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10429911	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10732295	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10732296	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10801593	0.98[EUR][1000 genomes]
rs10801594	0.98[EUR][1000 genomes]
rs1115247	0.87[CEU][hapmap]
rs12092294	0.87[CEU][hapmap]
rs12677	0.87[CEU][hapmap]
rs1332662	0.87[CEU][hapmap]
rs1332663	0.87[CEU][hapmap]
rs1412631	0.87[CEU][hapmap]
rs1412632	0.87[CEU][hapmap]
rs1412634	0.87[CEU][hapmap]
rs1415217	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1556763	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1571964	0.87[CEU][hapmap]
rs1764629	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1764800	1.00[CEU][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2026429	0.87[CEU][hapmap]
rs2151134	1.00[CEU][hapmap]
rs4244141	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4342879	1.00[CEU][hapmap]
rs4350226	1.00[CEU][hapmap]
rs476390	1.00[CEU][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes]
rs4915337	0.87[CEU][hapmap]
rs4915378	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs4915379	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5029273	0.98[EUR][1000 genomes]
rs510135	1.00[CEU][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs518149	1.00[CEU][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs552708	0.81[AMR][1000 genomes]
rs568757	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs571106	0.85[AMR][1000 genomes]
rs615647	1.00[CEU][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs616675	1.00[CEU][hapmap];0.84[YRI][hapmap];0.85[AMR][1000 genomes]
rs6428390	0.95[EUR][1000 genomes]
rs6656448	1.00[CEU][hapmap]
rs6656858	0.87[CEU][hapmap]
rs6677082	0.87[CEU][hapmap]
rs6701681	0.82[EUR][1000 genomes]
rs6703400	0.87[CEU][hapmap]
rs7513826	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7520503	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7523013	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7534353	0.87[CEU][hapmap]
rs7542397	0.87[CEU][hapmap]
rs7554802	0.97[EUR][1000 genomes]
rs7554890	0.98[EUR][1000 genomes]
rs7554995	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs877897	0.87[CEU][hapmap]

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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv548871	chr1:197106604-197168233	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197116600-197169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:197125400-197168400	Weak transcription	Psoas Muscle	Psoas
3	chr1:197125600-197169600	Weak transcription	Esophagus	oesophagus
4	chr1:197126400-197169600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:197141400-197166200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:197143200-197165800	Weak transcription	Small Intestine	intestine
7	chr1:197149800-197165400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:197152400-197168600	Weak transcription	Stomach Mucosa	stomach
9	chr1:197157200-197165600	Weak transcription	Aorta	Aorta
10	chr1:197157200-197166800	Weak transcription	NHEK	skin
11	chr1:197157400-197166800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:197157400-197166800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:197157400-197166800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:197157400-197166800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:197157400-197166800	Weak transcription	Right Ventricle	heart
16	chr1:197157400-197166800	Weak transcription	Thymus	Thymus
17	chr1:197157400-197166800	Weak transcription	HSMMtube	muscle
18	chr1:197157400-197166800	Weak transcription	NHLF	lung
19	chr1:197157400-197167000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:197157400-197168400	Weak transcription	Left Ventricle	heart
21	chr1:197157400-197169400	Weak transcription	Colonic Mucosa	Colon
22	chr1:197157400-197169600	Weak transcription	Pancreas	Pancrea
23	chr1:197157600-197167000	Weak transcription	HMEC	breast
24	chr1:197157600-197167000	Weak transcription	HUVEC	blood vessel
25	chr1:197157600-197167600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:197157800-197165600	Weak transcription	HepG2	liver
27	chr1:197158200-197165800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:197158400-197166800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:197158800-197166800	Weak transcription	NH-A	brain
30	chr1:197159200-197166800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:197159400-197166800	Weak transcription	Fetal Intestine Small	intestine
32	chr1:197159400-197166800	Weak transcription	Fetal Kidney	kidney
33	chr1:197159400-197169600	Weak transcription	Gastric	stomach
34	chr1:197159400-197169800	Weak transcription	Lung	lung
35	chr1:197159600-197165200	Weak transcription	Fetal Brain Female	brain
36	chr1:197159600-197165800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:197159600-197166600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:197159600-197166800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr1:197159600-197167000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:197159600-197167000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:197159600-197167800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:197159600-197168600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:197159600-197169200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:197159600-197169800	Weak transcription	Spleen	Spleen
45	chr1:197159800-197166800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:197159800-197168600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:197159800-197169600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:197160000-197166800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:197160200-197166400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:197160200-197166800	Weak transcription	Stomach Smooth Muscle	stomach

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