Variant report

Variant	rs17111448
Chromosome Location	chr1:94795791-94795792
allele	A/G
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	CTCF	chr1:94795680-94795830	GM12864	blood:	n/a	chr1:94795800-94795808
2	CTCF	chr1:94795632-94795803	Spleen_OC	spleen:	n/a	n/a
3	RAD21	chr1:94795425-94795914	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr1:94795534-94795817	HepG2	liver:	n/a	chr1:94795800-94795808
5	CTCF	chr1:94795680-94795830	GM12865	blood:	n/a	chr1:94795800-94795808
6	MXI1	chr1:94795626-94795856	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr1:94795594-94795837	MCF-7	breast:	n/a	chr1:94795800-94795808
8	CTCF	chr1:94795660-94795810	GM12864	blood:	n/a	chr1:94795800-94795808
9	RAD21	chr1:94795530-94795927	MCF-7	breast:	n/a	n/a
10	CTCF	chr1:94795505-94795935	MCF-7	breast:	n/a	chr1:94795800-94795808
11	CTCF	chr1:94795605-94795809	Kidney_OC	kidney:	n/a	chr1:94795800-94795808
12	CTCF	chr1:94795660-94795810	HCM	heart:	n/a	chr1:94795800-94795808
13	CTCF	chr1:94795660-94795810	HVMF	connective:	n/a	chr1:94795800-94795808
14	NFIC	chr1:94795611-94795835	HepG2	liver:	n/a	n/a
15	CTCF	chr1:94795660-94795810	GM12873	blood:	n/a	chr1:94795800-94795808
16	RAD21	chr1:94795268-94796152	SK-N-SH	brain:	n/a	n/a
17	SMC3	chr1:94795499-94795877	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr1:94795616-94795806	Fibrobl	skin:	n/a	n/a
19	RAD21	chr1:94795385-94795929	A549	lung:	n/a	n/a
20	CTCF	chr1:94795334-94796159	A549	lung:	n/a	chr1:94795800-94795808
21	CTCF	chr1:94795477-94795888	HepG2	liver:	n/a	chr1:94795800-94795808
22	CTCF	chr1:94795660-94795810	GM06990	blood:	n/a	chr1:94795800-94795808
23	RAD21	chr1:94795554-94795867	MCF-7	breast:	n/a	n/a
24	CTCF	chr1:94795599-94795838	ProgFib	skin:	n/a	chr1:94795800-94795808
25	CTCF	chr1:94795635-94795833	K562	blood:	n/a	chr1:94795800-94795808
26	CTCF	chr1:94795527-94795897	H1-hESC	embryonic stem cell:	n/a	chr1:94795800-94795808
27	GTF2F1	chr1:94795605-94795801	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr1:94795596-94795814	HepG2	liver:	n/a	chr1:94795800-94795808
29	RAD21	chr1:94795395-94795953	HepG2	liver:	n/a	n/a
30	CTCF	chr1:94795554-94795843	A549	lung:	n/a	chr1:94795800-94795808
31	CTCF	chr1:94795552-94795911	H1-hESC	embryonic stem cell:	n/a	chr1:94795800-94795808
32	CTCF	chr1:94795601-94795803	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr1:94795471-94795855	A549	lung:	n/a	chr1:94795800-94795808
34	CTCF	chr1:94795447-94795843	A549	lung:	n/a	chr1:94795800-94795808
35	SMC3	chr1:94795487-94795928	HepG2	liver:	n/a	n/a
36	RAD21	chr1:94795485-94795920	HepG2	liver:	n/a	n/a
37	CTCF	chr1:94795585-94795819	HUVEC	blood vessel:	n/a	chr1:94795800-94795808
38	CTCF	chr1:94795760-94795910	WI-38	lung:	n/a	chr1:94795800-94795808
39	RAD21	chr1:94795256-94796120	HCT-116	colon:	n/a	n/a
40	CTCF	chr1:94795362-94795985	HCT-116	colon:	n/a	chr1:94795800-94795808
41	CTCF	chr1:94795680-94795830	HEEpiC	esophagus:	n/a	chr1:94795800-94795808
42	CTCF	chr1:94795660-94795810	SK-N-SH_RA	brain:	n/a	chr1:94795800-94795808
43	CTCF	chr1:94795434-94796121	SK-N-SH	brain:	n/a	chr1:94795800-94795808
44	ZNF143	chr1:94795584-94795884	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr1:94795578-94795840	Gliobla	brain:	n/a	chr1:94795800-94795808
46	RAD21	chr1:94795507-94795889	IMR90	lung:	n/a	n/a
47	CTCF	chr1:94795660-94795810	HRE	kidney:	n/a	chr1:94795800-94795808
48	RAD21	chr1:94795495-94795873	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr1:94795660-94795810	HEK293	kidney:	n/a	chr1:94795800-94795808
50	CTCF	chr1:94795660-94795810	HMEC	breast:	n/a	chr1:94795800-94795808

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94793698..94796571-chr1:94797240..94800025,2	K562	blood:
2	chr1:94526654..94527659-chr1:94795235..94796181,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226835	TF binding region
ENSG00000226835	Chromatin interaction
ENSG00000198691	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10493871	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12067988	1.00[ASN][1000 genomes]
rs1687966	1.00[ASN][1000 genomes]
rs17111415	1.00[ASN][1000 genomes]
rs1756263	1.00[ASN][1000 genomes]
rs1765643	1.00[ASN][1000 genomes]
rs2018665	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs728862	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7417304	1.00[ASN][1000 genomes]
rs7520367	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs991562	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94788600-94800800	Weak transcription	Pancreas	Pancrea
2	chr1:94790200-94796000	Enhancers	HMEC	breast
3	chr1:94790800-94799200	Enhancers	Fetal Heart	heart
4	chr1:94791200-94795800	Weak transcription	Right Ventricle	heart
5	chr1:94791200-94796600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:94791200-94798600	Weak transcription	Lung	lung
7	chr1:94791800-94796200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:94792400-94800200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:94792800-94796000	Enhancers	A549	lung
10	chr1:94793000-94795800	Weak transcription	Spleen	Spleen
11	chr1:94793000-94796000	Weak transcription	Brain Angular Gyrus	brain
12	chr1:94793000-94796200	Enhancers	HUVEC	blood vessel
13	chr1:94793000-94798800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:94793200-94795800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:94793200-94795800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:94793200-94796000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:94793200-94796200	Enhancers	Osteobl	bone
18	chr1:94793200-94796600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:94793200-94798600	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:94793200-94800600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:94793400-94795800	Weak transcription	Brain Anterior Caudate	brain
22	chr1:94793400-94796200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:94793400-94796400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:94793400-94798600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:94793400-94798800	Weak transcription	Placenta	Placenta
26	chr1:94793600-94796000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:94793800-94796200	Enhancers	NHDF-Ad	bronchial
28	chr1:94794000-94795800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:94794800-94796000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:94794800-94796200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:94794800-94796400	Enhancers	Left Ventricle	heart
32	chr1:94794800-94796600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:94794800-94796600	Enhancers	NHLF	lung
34	chr1:94795000-94796000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:94795000-94796000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:94795000-94798400	Weak transcription	HSMMtube	muscle
37	chr1:94795200-94796400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:94795200-94796600	Enhancers	HSMM	muscle
39	chr1:94795200-94798600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:94795400-94796000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:94795400-94796000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:94795400-94796000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:94795400-94796000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:94795400-94796000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr1:94795400-94796000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:94795400-94796000	Enhancers	Fetal Kidney	kidney
47	chr1:94795400-94796000	Enhancers	Fetal Thymus	thymus
48	chr1:94795400-94796000	Enhancers	NHEK	skin
49	chr1:94795400-94796600	Enhancers	Fetal Stomach	stomach
50	chr1:94795400-94796600	Enhancers	Skeletal Muscle Male	skeletal muscle

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