Variant report

Variant	rs60256604
Chromosome Location	chr1:224427681-224427682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:224427582-224427782	Hela-S3	cervix:	n/a	chr1:224427655-224427666
2	CEBPB	chr1:224427558-224427800	HepG2	liver:	n/a	chr1:224427655-224427666
3	CEBPB	chr1:224427504-224427804	IMR90	lung:	n/a	chr1:224427655-224427666
4	CEBPB	chr1:224427562-224427797	K562	blood:	n/a	chr1:224427655-224427666
5	CEBPB	chr1:224427561-224427799	A549	lung:	n/a	chr1:224427655-224427666
6	CEBPB	chr1:224427489-224427821	H1-hESC	embryonic stem cell:	n/a	chr1:224427655-224427666
7	POLR2A	chr1:224427079-224427711	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:224422701..224425563-chr1:224425707..224428644,3	K562	blood:
2	chr1:224426515..224428404-chr1:224428419..224431301,2	MCF-7	breast:
3	chr1:224392062..224394809-chr1:224425403..224428282,2	K562	blood:

Variant related genes	Relation type
NVL	TF binding region
ENSG00000143748	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10799491	0.84[EUR][1000 genomes]
rs10799507	0.92[EUR][1000 genomes]
rs10799543	0.88[EUR][1000 genomes]
rs10916458	0.88[EUR][1000 genomes]
rs10916462	0.88[EUR][1000 genomes]
rs10916472	0.84[EUR][1000 genomes]
rs10916481	0.82[EUR][1000 genomes]
rs10916497	0.88[EUR][1000 genomes]
rs10916498	0.85[EUR][1000 genomes]
rs12082619	0.88[EUR][1000 genomes]
rs12083770	0.92[EUR][1000 genomes]
rs12120308	0.84[EUR][1000 genomes]
rs12124547	0.88[EUR][1000 genomes]
rs12126765	0.92[EUR][1000 genomes]
rs12126815	0.88[EUR][1000 genomes]
rs12133599	0.92[EUR][1000 genomes]
rs12138866	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12140137	0.88[EUR][1000 genomes]
rs12184283	0.88[EUR][1000 genomes]
rs45583539	0.96[EUR][1000 genomes]
rs6660194	0.84[EUR][1000 genomes]
rs6686449	0.88[EUR][1000 genomes]
rs68073536	0.85[EUR][1000 genomes]
rs72753956	0.92[EUR][1000 genomes]
rs72753969	0.92[EUR][1000 genomes]
rs72753980	0.84[EUR][1000 genomes]
rs72753994	0.84[EUR][1000 genomes]
rs72754000	0.88[EUR][1000 genomes]
rs72754001	0.81[EUR][1000 genomes]
rs72755905	0.88[EUR][1000 genomes]
rs7514140	0.92[EUR][1000 genomes]
rs7552239	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers 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 miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224401800-224475400	Weak transcription	Esophagus	oesophagus
2	chr1:224407600-224434000	Weak transcription	Fetal Brain Male	brain
3	chr1:224411600-224438000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:224411600-224454400	Weak transcription	Psoas Muscle	Psoas
5	chr1:224412000-224433000	Weak transcription	Fetal Heart	heart
6	chr1:224412400-224473600	Weak transcription	HepG2	liver
7	chr1:224413200-224432600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:224413800-224428000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:224413800-224428200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr1:224414000-224432200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:224414200-224427800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:224414200-224427800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:224414200-224428800	Strong transcription	Fetal Intestine Large	intestine
14	chr1:224414200-224438000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:224414400-224428800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:224415000-224436200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:224415000-224440000	Weak transcription	Fetal Kidney	kidney
18	chr1:224415600-224432600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:224415600-224435000	Weak transcription	Gastric	stomach
20	chr1:224415800-224435600	Weak transcription	NHLF	lung
21	chr1:224415800-224435800	Weak transcription	Brain Angular Gyrus	brain
22	chr1:224416000-224432800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:224416000-224436600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:224416000-224465600	Weak transcription	Small Intestine	intestine
25	chr1:224416200-224433000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:224417400-224427800	Strong transcription	Primary T cells from cord blood	blood
27	chr1:224417400-224427800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr1:224417800-224435600	Weak transcription	Colonic Mucosa	Colon
29	chr1:224418000-224435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:224418000-224436600	Weak transcription	Right Ventricle	heart
31	chr1:224418400-224439400	Weak transcription	HSMMtube	muscle
32	chr1:224419200-224432600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr1:224419200-224435600	Weak transcription	Brain Anterior Caudate	brain
34	chr1:224419200-224436600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:224420400-224427800	Strong transcription	Fetal Muscle Leg	muscle
36	chr1:224420400-224435600	Weak transcription	HMEC	breast
37	chr1:224420800-224434400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:224421400-224433200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:224422200-224427800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:224422800-224427800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:224422800-224431000	Weak transcription	Hela-S3	cervix
42	chr1:224423000-224428400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr1:224423000-224432000	Weak transcription	Primary B cells from cord blood	blood
44	chr1:224423400-224427800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:224423600-224429600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:224423600-224433000	Weak transcription	Lung	lung
47	chr1:224423800-224439400	Weak transcription	Right Atrium	heart
48	chr1:224424000-224428400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr1:224424000-224435400	Weak transcription	Osteobl	bone
50	chr1:224424200-224432200	Weak transcription	Adipose Nuclei	Adipose

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