Variant report

Variant	rs2296544
Chromosome Location	chr10:27149908-27149909
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	CEBPD	chr10:27149543-27150173	K562	blood:	n/a	n/a
2	TCF12	chr10:27149820-27150182	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr10:27149608-27150075	K562	blood:	n/a	n/a
4	UBTF	chr10:27148670-27150021	K562	blood:	n/a	n/a
5	MAX	chr10:27149361-27150397	MCF-7	breast:	n/a	chr10:27150170-27150180 chr10:27149955-27149965
6	MYC	chr10:27149768-27150076	HepG2	liver:	n/a	chr10:27149955-27149965
7	CTCF	chr10:27148458-27150784	A549	lung:	n/a	chr10:27150217-27150230 chr10:27150214-27150232 chr10:27150217-27150230 chr10:27150215-27150231
8	IRF1	chr10:27149588-27150519	K562	blood:	n/a	chr10:27150277-27150284 chr10:27150427-27150441 chr10:27150267-27150274
9	POLR2A	chr10:27148999-27150111	GM19193	blood:	n/a	n/a
10	POLR2A	chr10:27148815-27150081	K562	blood:	n/a	n/a
11	POLR2A	chr10:27148782-27150163	U87	brain:	n/a	n/a
12	ZNF143	chr10:27149489-27150419	H1-hESC	embryonic stem cell:	n/a	chr10:27150058-27150076 chr10:27149645-27149655 chr10:27150067-27150076 chr10:27150065-27150074 chr10:27149598-27149616
13	MAX	chr10:27148941-27150387	K562	blood:	n/a	chr10:27150170-27150180 chr10:27149955-27149965 chr10:27149073-27149082
14	POLR2A	chr10:27149595-27149997	HepG2	liver:	n/a	n/a
15	RCOR1	chr10:27149650-27150175	HepG2	liver:	n/a	n/a
16	POLR2A	chr10:27149111-27150090	GM18526	blood:	n/a	n/a
17	SP4	chr10:27149851-27150395	H1-hESC	embryonic stem cell:	n/a	chr10:27150171-27150187
18	RELA	chr10:27149350-27150454	GM10847	blood:	n/a	n/a
19	POLR2A	chr10:27149438-27150144	A549	lung:	n/a	n/a
20	POLR2A	chr10:27149035-27150107	GM18951	blood:	n/a	n/a
21	ELF1	chr10:27149240-27150398	MCF-7	breast:	n/a	chr10:27149477-27149488 chr10:27149356-27149368
22	PML	chr10:27149580-27150136	GM12878	blood:	n/a	n/a
23	ZBTB33	chr10:27149692-27150247	HepG2	liver:	n/a	n/a
24	ELF1	chr10:27149105-27150294	GM12878	blood:	n/a	chr10:27149477-27149488 chr10:27149356-27149368
25	ZBTB33	chr10:27149717-27150220	K562	blood:	n/a	n/a
26	HNF4A	chr10:27149762-27150121	HepG2	liver:	n/a	n/a
27	TBL1XR1	chr10:27148546-27150318	GM12878	blood:	n/a	n/a
28	TCF7L2	chr10:27149724-27150167	PANC-1	pancreas:	n/a	n/a
29	ELF1	chr10:27149626-27150136	A549	lung:	n/a	n/a
30	TBP	chr10:27149616-27150080	Hela-S3	cervix:	n/a	n/a
31	SIX5	chr10:27149844-27150176	K562	blood:	n/a	chr10:27150065-27150074 chr10:27150067-27150076 chr10:27150064-27150078
32	ZBTB33	chr10:27149638-27150212	HepG2	liver:	n/a	n/a
33	EP300	chr10:27149734-27150139	SK-N-SH_RA	brain:	n/a	n/a
34	STAT5A	chr10:27149658-27150151	K562	blood:	n/a	chr10:27150061-27150069
35	ZBTB33	chr10:27149679-27150155	HCT-116	colon:	n/a	n/a
36	BCL3	chr10:27149338-27150108	GM12878	blood:	n/a	chr10:27149400-27149413 chr10:27149476-27149485 chr10:27149646-27149659 chr10:27149405-27149418
37	POLR2A	chr10:27149407-27150007	A549	lung:	n/a	n/a
38	JUND	chr10:27149784-27150413	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr10:27148571-27150119	IMR90	lung:	n/a	n/a
40	BCLAF1	chr10:27149325-27150399	GM12878	blood:	n/a	chr10:27149400-27149413 chr10:27149476-27149485 chr10:27149646-27149659 chr10:27150190-27150199 chr10:27149405-27149418
41	CTCF	chr10:27149877-27149939	NHEK	skin:	n/a	n/a
42	POLR2A	chr10:27149061-27150188	MCF-7	breast:	n/a	n/a
43	REST	chr10:27149533-27150194	A549	lung:	n/a	chr10:27150020-27150033
44	SIN3AK20	chr10:27149534-27150034	PANC-1	pancreas:	n/a	n/a
45	MAX	chr10:27149607-27150328	SK-N-SH	brain:	n/a	chr10:27150170-27150180 chr10:27149955-27149965
46	GABPA	chr10:27149620-27150129	A549	lung:	n/a	chr10:27150104-27150115 chr10:27150104-27150118 chr10:27150104-27150113 chr10:27150106-27150115 chr10:27150101-27150115
47	ZNF143	chr10:27149380-27150382	Hela-S3	cervix:	n/a	chr10:27150058-27150076 chr10:27149645-27149655 chr10:27150067-27150076 chr10:27149390-27149400 chr10:27150065-27150074 chr10:27149598-27149616
48	GTF2F1	chr10:27149650-27149992	K562	blood:	n/a	n/a
49	MXI1	chr10:27149754-27150360	K562	blood:	n/a	n/a
50	CHD2	chr10:27149196-27150329	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:27149860-27149910	Caco-2	colon:	n/a
2	chr10:27149860-27149910	T-47D	breast:	n/a
3	chr10:27149860-27149910	HRCEpiC	kidney:	n/a
4	chr10:27149860-27149910	SK-N-SH	brain:	n/a
5	chr10:27149860-27149910	IMR90	lung:	fetal
6	chr10:27149860-27149910	A549	lung:	n/a
7	chr10:27149860-27149910	PANC-1	pancreas:	n/a
8	chr10:27149860-27149910	Jurkat	blood:	n/a
9	chr10:27149860-27149910	HRPEpiC	eye:	n/a
10	chr10:27149860-27149910	NT2-D1	testis:	n/a
11	chr10:27149860-27149910	H1-hESC	embryonic stem cell:	embryo
12	chr10:27149860-27149910	SK-N-MC	brain:	n/a
13	chr10:27149860-27149910	AG09309	skin:	n/a
14	chr10:27149860-27149910	HRE	kidney:	n/a
15	chr10:27149860-27149910	Hela-S3	cervix:	n/a
16	chr10:27149860-27149910	HAEpiC	amniotic membrane:	n/a
17	chr10:27149860-27149910	PrEC	prostate:	n/a
18	chr10:27149860-27149910	AG04449	skin:	fetal
19	chr10:27149860-27149910	SKMC	muscle:	n/a
20	chr10:27149860-27149910	NHBE	bronchial:	n/a
21	chr10:27149860-27149910	MCF-7	breast:	n/a
22	chr10:27149860-27149910	SK-N-SH_RA	brain:	n/a
23	chr10:27149860-27149910	GM19239	blood:	n/a
24	chr10:27149860-27149910	ovcar-3	ovarian:	n/a
25	chr10:27149860-27149910	ProgFib	skin:	n/a
26	chr10:27149860-27149910	AG04450	lung:	fetal
27	chr10:27149860-27149910	NB4	blood:	n/a
28	chr10:27149860-27149910	HL-60	blood:	n/a
29	chr10:27149860-27149910	GM06990	blood:	n/a
30	chr10:27149860-27149910	RPTEC	kidney:	n/a
31	chr10:27149860-27149910	SAEC	small airway:	n/a
32	chr10:27149860-27149910	PFSK-1	brain:	n/a
33	chr10:27149860-27149910	CMK	blood:	n/a
34	chr10:27149860-27149910	Hepatocyte	liver:	n/a
35	chr10:27149860-27149910	HCT-116	colon:	n/a
36	chr10:27149860-27149910	HIPEpiC	eye:	n/a
37	chr10:27149860-27149910	HCF	heart:	n/a
38	chr10:27149860-27149910	GM12892	blood:	n/a
39	chr10:27149860-27149910	AG09319	gingival:	n/a
40	chr10:27149860-27149910	HCPEpiC	choroid plexus:	n/a
41	chr10:27149860-27149910	U87	brain:	n/a
42	chr10:27149860-27149910	ECC-1	luminal epithelium:	n/a
43	chr10:27149860-27149910	K562	blood:	n/a
44	chr10:27149860-27149910	HEK293	kidney:	embryo
45	chr10:27149860-27149910	NH-A	brain:	n/a
46	chr10:27149860-27149910	NHDF-neo	bronchial:	n/a
47	chr10:27149860-27149910	AoSMC	blood vessel:	n/a
48	chr10:27149860-27149910	BJ	skin:	n/a
49	chr10:27149860-27149910	BE2_C	brain:	n/a
50	chr10:27149860-27149910	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:26986066..26987689-chr10:27148181..27149962,2	K562	blood:
2	chr10:26986021..26987940-chr10:27149008..27151636,2	MCF-7	breast:
3	chr10:27023145..27024775-chr10:27148207..27150009,2	MCF-7	breast:
4	chr10:27149782..27150322-chr7:25164140..25164992,2	Hela-S3	cervix:
5	chr10:26985323..26988042-chr10:27148387..27150466,3	MCF-7	breast:
6	chr10:26985918..26987566-chr10:27148462..27151237,2	K562	blood:
7	chr10:27149423..27150047-chr7:100487107..100487691,2	Hela-S3	cervix:
8	chr10:27149519..27151430-chr10:27442633..27444807,2	K562	blood:

Variant related genes	Relation type
ABI1	TF binding region
ABI1	CpG island
ENSG00000136758	Chromatin interaction
ENSG00000148459	Chromatin interaction
ENSG00000172115	Chromatin interaction
ENSG00000120539	Chromatin interaction
ENSG00000176125	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10829072	0.85[ASN][1000 genomes]
rs11015298	0.82[ASN][1000 genomes]
rs1115707	1.00[AMR][1000 genomes]
rs12415181	0.87[EUR][1000 genomes]
rs12416351	0.87[EUR][1000 genomes]
rs12571068	0.87[EUR][1000 genomes]
rs12571996	0.87[EUR][1000 genomes]
rs12572166	1.00[EUR][1000 genomes]
rs17754383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17754419	1.00[AMR][1000 genomes]
rs17754431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17816281	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17816551	1.00[AMR][1000 genomes]
rs17816804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1815322	0.89[EUR][1000 genomes]
rs2477924	0.89[EUR][1000 genomes]
rs2477926	0.89[EUR][1000 genomes]
rs2477927	0.89[EUR][1000 genomes]
rs3802611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4628582	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55806416	0.82[ASN][1000 genomes]
rs72629715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72629716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72629717	1.00[AMR][1000 genomes]
rs72629718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72629719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72629720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72629721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72629722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72629723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72629724	1.00[AMR][1000 genomes]
rs72629725	1.00[AMR][1000 genomes]
rs72629726	1.00[AMR][1000 genomes]
rs72629727	1.00[AMR][1000 genomes]
rs72629728	1.00[AMR][1000 genomes]
rs72629729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72629730	1.00[AMR][1000 genomes]
rs72629731	1.00[AMR][1000 genomes]
rs72629733	1.00[AMR][1000 genomes]
rs72629734	1.00[AMR][1000 genomes]
rs72629735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72629736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72629737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72629738	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72629739	1.00[EUR][1000 genomes]
rs72629740	1.00[EUR][1000 genomes]
rs72629742	1.00[EUR][1000 genomes]
rs72629743	1.00[EUR][1000 genomes]
rs72629744	1.00[EUR][1000 genomes]
rs72629745	1.00[EUR][1000 genomes]
rs72629746	1.00[EUR][1000 genomes]
rs72629747	1.00[EUR][1000 genomes]
rs72629749	1.00[EUR][1000 genomes]
rs72629750	1.00[EUR][1000 genomes]
rs899372	0.89[EUR][1000 genomes];0.82[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	esv3415799	chr10:26929831-27233591	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831812	chr10:27061506-27234267	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv971858	chr10:27066006-27157708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27146400-27150400	Active TSS	GM12878-XiMat	blood
2	chr10:27147000-27150400	Active TSS	Right Ventricle	heart
3	chr10:27147000-27150600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr10:27147000-27150800	Active TSS	Thymus	Thymus
5	chr10:27147200-27150400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr10:27147200-27150400	Active TSS	HSMMtube	muscle
7	chr10:27147200-27150400	Active TSS	NHLF	lung
8	chr10:27147400-27150000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr10:27147400-27150000	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr10:27147400-27150000	Active TSS	Hela-S3	cervix
11	chr10:27147400-27150400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr10:27147400-27150400	Active TSS	K562	blood
13	chr10:27147400-27150600	Active TSS	Psoas Muscle	Psoas
14	chr10:27147400-27150600	Active TSS	Right Atrium	heart
15	chr10:27147400-27150600	Active TSS	Stomach Smooth Muscle	stomach
16	chr10:27147400-27150600	Active TSS	A549	lung
17	chr10:27147400-27151000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr10:27147600-27150000	Active TSS	Ovary	ovary
19	chr10:27147600-27150200	Active TSS	Primary T cells fromperipheralblood	blood
20	chr10:27147600-27150200	Active TSS	NHEK	skin
21	chr10:27147600-27150400	Active TSS	HMEC	breast
22	chr10:27147600-27150800	Active TSS	Brain Angular Gyrus	brain
23	chr10:27147800-27150000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:27147800-27150000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:27147800-27150000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:27147800-27150000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:27147800-27150000	Active TSS	Fetal Thymus	thymus
28	chr10:27147800-27150400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:27147800-27150400	Active TSS	Fetal Brain Male	brain
30	chr10:27147800-27150400	Active TSS	NHDF-Ad	bronchial
31	chr10:27147800-27150600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:27147800-27150600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:27147800-27150600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr10:27147800-27150600	Active TSS	Colonic Mucosa	Colon
35	chr10:27147800-27150600	Active TSS	Fetal Lung	lung
36	chr10:27147800-27150600	Active TSS	Fetal Stomach	stomach
37	chr10:27148000-27150000	Active TSS	H1 Cell Line	embryonic stem cell
38	chr10:27148000-27150000	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr10:27148000-27150000	Active TSS	HSMM	muscle
40	chr10:27148000-27150200	Active TSS	Muscle Satellite Cultured Cells	--
41	chr10:27148000-27150200	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr10:27148000-27150400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr10:27148000-27150400	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr10:27148000-27150400	Active TSS	Brain Cingulate Gyrus	brain
45	chr10:27148000-27150400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr10:27148000-27150400	Active TSS	Fetal Intestine Large	intestine
47	chr10:27148000-27150400	Active TSS	HepG2	liver
48	chr10:27148000-27150600	Active TSS	Rectal Smooth Muscle	rectum
49	chr10:27148000-27150600	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr10:27148000-27150800	Active TSS	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links