Variant report

Variant	rs17108087
Chromosome Location	chr10:99332173-99332174
allele	A/C
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	chr10:99332120-99332270	AoAF	blood vessel:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
2	CEBPB	chr10:99332008-99332439	ECC-1	luminal epithelium:	n/a	n/a
3	CTCF	chr10:99332001-99332344	GM12878	blood:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
4	ELF1	chr10:99331927-99332448	GM12878	blood:	n/a	n/a
5	CCNT2	chr10:99331935-99332286	K562	blood:	n/a	n/a
6	CTCF	chr10:99331897-99332409	H1-hESC	embryonic stem cell:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
7	CTCF	chr10:99332039-99332296	GM10266	blood:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
8	GABPA	chr10:99331937-99332352	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr10:99332080-99332319	Hela-S3	cervix:	n/a	n/a
10	RAD21	chr10:99331916-99332388	HepG2	liver:	n/a	chr10:99332173-99332192 chr10:99332322-99332334 chr10:99332178-99332190
11	CTCF	chr10:99332100-99332250	GM12878	blood:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
12	CEBPB	chr10:99332074-99332321	HepG2	liver:	n/a	n/a
13	CTCF	chr10:99332021-99332325	MCF-7	breast:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
14	CTCF	chr10:99331866-99332346	GM19238	blood:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
15	POLR2A	chr10:99332036-99332350	HCT-116	colon:	n/a	n/a
16	RAD21	chr10:99332055-99332369	GM12878	blood:	n/a	chr10:99332173-99332192 chr10:99332322-99332334 chr10:99332178-99332190
17	CTCF	chr10:99332160-99332310	HAc	cerebellar:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
18	JUND	chr10:99331997-99332371	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr10:99332100-99332250	GM12874	blood:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
20	TCF12	chr10:99331350-99332874	ECC-1	luminal epithelium:	n/a	chr10:99331620-99331627
21	CEBPB	chr10:99332016-99332428	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr10:99332080-99332230	GM12874	blood:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
23	CTCF	chr10:99332035-99332339	Medullo	brain:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
24	CTCF	chr10:99331468-99332640	A549	lung:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
25	GTF2F1	chr10:99332041-99332329	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr10:99332037-99332325	HUVEC	blood vessel:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
27	RFX5	chr10:99332025-99332379	Hela-S3	cervix:	n/a	n/a
28	YY1	chr10:99332025-99332251	HCT-116	colon:	n/a	n/a
29	ELF1	chr10:99332062-99332251	HepG2	liver:	n/a	n/a
30	CTCF	chr10:99332120-99332270	HCT-116	colon:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
31	RAD21	chr10:99331848-99332601	ECC-1	luminal epithelium:	n/a	chr10:99332173-99332192 chr10:99332322-99332334 chr10:99332178-99332190
32	SMC3	chr10:99331953-99332372	GM12878	blood:	n/a	chr10:99332174-99332188
33	CTCF	chr10:99332060-99332210	GM12866	blood:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
34	CTCF	chr10:99332100-99332250	HL-60	blood:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
35	RAD21	chr10:99331316-99332653	HCT-116	colon:	n/a	chr10:99332173-99332192 chr10:99332322-99332334 chr10:99332178-99332190
36	SPI1	chr10:99332036-99332375	GM12878	blood:	n/a	n/a
37	CTCF	chr10:99331966-99332376	K562	blood:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
38	CTCF	chr10:99332054-99332311	LNCaP	prostate:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
39	RCOR1	chr10:99332056-99332366	K562	blood:	n/a	n/a
40	RAD21	chr10:99331910-99332432	HepG2	liver:	n/a	chr10:99332173-99332192 chr10:99332322-99332334 chr10:99332178-99332190
41	CTCF	chr10:99332120-99332270	GM12867	blood:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
42	CTCF	chr10:99332100-99332250	HCFaa	heart:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
43	NR3C1	chr10:99332082-99332473	A549	lung:	n/a	chr10:99332389-99332402 chr10:99332316-99332330
44	CTCF	chr10:99332120-99332270	GM12872	blood:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
45	NFIC	chr10:99331852-99332588	ECC-1	luminal epithelium:	n/a	chr10:99332241-99332258 chr10:99332241-99332257
46	CTCF	chr10:99332120-99332270	HRE	kidney:	n/a	chr10:99332175-99332188 chr10:99332173-99332189 chr10:99332172-99332190 chr10:99332174-99332195 chr10:99332175-99332183
47	RAD21	chr10:99331701-99332588	A549	lung:	n/a	chr10:99332173-99332192 chr10:99332322-99332334 chr10:99332178-99332190
48	RAD21	chr10:99332104-99332261	K562	blood:	n/a	chr10:99332173-99332192 chr10:99332178-99332190
49	HMGN3	chr10:99332062-99332515	K562	blood:	n/a	n/a
50	HCFC1	chr10:99332017-99332283	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:99255590..99258774-chr10:99331777..99334688,4	MCF-7	breast:
2	chr10:99222708..99225169-chr10:99331581..99333239,2	MCF-7	breast:
3	chr10:99330373..99332190-chr5:177631537..177633145,2	MCF-7	breast:
4	chr10:99329733..99337149-chr10:99338392..99346753,19	MCF-7	breast:
5	chr10:99256533..99260506-chr10:99329939..99335950,10	MCF-7	breast:
6	chr10:99205743..99208350-chr10:99330121..99333769,3	MCF-7	breast:

Variant related genes	Relation type
ANKRD2	TF binding region
ENSG00000165886	Chromatin interaction
ENSG00000241935	Chromatin interaction
ENSG00000171311	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000171307	Chromatin interaction
ENSG00000249967	Chromatin interaction
ENSG00000155229	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10882958	0.88[ASN][1000 genomes]
rs11189254	0.87[ASN][1000 genomes]
rs12245837	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12259524	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12263319	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12263477	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17107905	0.84[ASN][1000 genomes]
rs17108072	1.00[ASN][1000 genomes]
rs17108114	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2153545	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2275588	0.86[ASN][1000 genomes]
rs35311829	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4919110	0.90[ASN][1000 genomes]
rs58336429	0.93[ASN][1000 genomes]
rs59951048	1.00[ASN][1000 genomes]
rs60730732	0.93[ASN][1000 genomes]
rs7077096	1.00[ASN][1000 genomes]
rs7912825	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7922873	0.83[AMR][1000 genomes];1.00[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	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1036494	chr10:99267639-99345207	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv1047359	chr10:99306501-99369013	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99321200-99334600	Weak transcription	HepG2	liver
2	chr10:99322000-99333000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr10:99325400-99332200	Weak transcription	HUVEC	blood vessel
4	chr10:99325600-99334600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:99326000-99332200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr10:99326000-99334200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr10:99326400-99334200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr10:99327000-99334600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr10:99327200-99332200	Weak transcription	Right Atrium	heart
10	chr10:99327200-99334600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr10:99327600-99332200	Strong transcription	Spleen	Spleen
12	chr10:99327600-99332400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr10:99327800-99334400	Weak transcription	Colon Smooth Muscle	Colon
14	chr10:99329200-99332200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:99329200-99334000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr10:99329600-99332200	Weak transcription	NHDF-Ad	bronchial
17	chr10:99329600-99334600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:99329800-99333000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:99329800-99333000	Enhancers	Esophagus	oesophagus
20	chr10:99329800-99336000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr10:99330000-99335400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:99330200-99332400	Enhancers	HSMMtube	muscle
23	chr10:99330400-99332600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:99330600-99332400	Enhancers	Brain Angular Gyrus	brain
25	chr10:99330600-99332600	Enhancers	Brain Hippocampus Middle	brain
26	chr10:99330800-99332200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:99330800-99332200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr10:99330800-99332200	Flanking Active TSS	NHEK	skin
29	chr10:99330800-99332400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr10:99330800-99332400	Weak transcription	Aorta	Aorta
31	chr10:99330800-99334200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:99330800-99334400	Weak transcription	NHLF	lung
33	chr10:99330800-99334600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr10:99330800-99335000	Weak transcription	Ovary	ovary
35	chr10:99330800-99335400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr10:99330800-99336200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:99330800-99336200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:99330800-99336200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr10:99331000-99332200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr10:99331000-99332200	Weak transcription	Psoas Muscle	Psoas
41	chr10:99331000-99332600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr10:99331000-99332600	Enhancers	Stomach Mucosa	stomach
43	chr10:99331000-99337200	Enhancers	Fetal Heart	heart
44	chr10:99331200-99332400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr10:99331200-99332600	Enhancers	Fetal Intestine Small	intestine
46	chr10:99331200-99332800	Enhancers	Brain Anterior Caudate	brain
47	chr10:99331200-99332800	Enhancers	Gastric	stomach
48	chr10:99331200-99333000	Enhancers	Placenta	Placenta
49	chr10:99331200-99334400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr10:99331200-99334400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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