Variant report

Variant	rs10145533
Chromosome Location	chr14:70317117-70317118
allele	C/G/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	NFIC	chr14:70316830-70317791	HepG2	liver:	n/a	n/a
2	HNF4A	chr14:70316885-70317821	HepG2	liver:	n/a	chr14:70317345-70317357 chr14:70317344-70317357 chr14:70317342-70317360 chr14:70317345-70317358 chr14:70317344-70317358 chr14:70317345-70317357
3	REST	chr14:70316807-70317417	HepG2	liver:	n/a	chr14:70316845-70316858
4	CEBPD	chr14:70316810-70317394	HepG2	liver:	n/a	n/a
5	GATA3	chr14:70316995-70318019	MCF-7	breast:	n/a	n/a
6	TCF12	chr14:70316952-70317418	HepG2	liver:	n/a	chr14:70317220-70317227 chr14:70317167-70317177
7	NFIC	chr14:70316770-70317909	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:70316813-70317362	HepG2	liver:	n/a	n/a
9	HEY1	chr14:70316409-70317358	HepG2	liver:	n/a	chr14:70317162-70317177
10	HNF4A	chr14:70316913-70317801	HepG2	liver:	n/a	chr14:70317345-70317357 chr14:70317344-70317357 chr14:70317342-70317360 chr14:70317345-70317358 chr14:70317344-70317358 chr14:70317345-70317357
11	GABPA	chr14:70317000-70317265	HepG2	liver:	n/a	n/a
12	YY1	chr14:70316813-70317332	HepG2	liver:	n/a	chr14:70317017-70317031 chr14:70317163-70317174 chr14:70316877-70316891
13	FOSL2	chr14:70316820-70317411	HepG2	liver:	n/a	chr14:70317170-70317179 chr14:70317250-70317258
14	HNF4G	chr14:70316815-70317919	HepG2	liver:	n/a	chr14:70317345-70317357 chr14:70317344-70317357 chr14:70317342-70317357 chr14:70317342-70317360 chr14:70317345-70317358 chr14:70317344-70317358 chr14:70317345-70317357
15	BHLHE40	chr14:70316574-70317327	HepG2	liver:	n/a	chr14:70317227-70317243
16	MYBL2	chr14:70316862-70317969	HepG2	liver:	n/a	n/a
17	RAD21	chr14:70317058-70317342	HepG2	liver:	n/a	chr14:70317223-70317237 chr14:70317222-70317235
18	POLR2A	chr14:70316841-70317384	HepG2	liver:	n/a	n/a
19	ZBTB7A	chr14:70316882-70317311	HepG2	liver:	n/a	chr14:70317231-70317240
20	ELF1	chr14:70316921-70317765	HepG2	liver:	n/a	chr14:70317018-70317030
21	HDAC2	chr14:70316892-70317648	MCF-7	breast:	n/a	chr14:70317449-70317463 chr14:70317451-70317465 chr14:70317454-70317468 chr14:70317450-70317464
22	MYBL2	chr14:70316838-70317958	HepG2	liver:	n/a	n/a
23	RCOR1	chr14:70316891-70317941	HepG2	liver:	n/a	n/a
24	MAX	chr14:70316912-70317237	HepG2	liver:	n/a	n/a
25	FOXA1	chr14:70316895-70317950	HepG2	liver:	n/a	n/a
26	MBD4	chr14:70316958-70317933	HepG2	liver:	n/a	n/a
27	GABPA	chr14:70316983-70317268	HepG2	liver:	n/a	n/a
28	ZBTB7A	chr14:70316993-70317297	HepG2	liver:	n/a	chr14:70317231-70317240
29	ELF1	chr14:70316865-70317794	HepG2	liver:	n/a	chr14:70317018-70317030
30	MBD4	chr14:70316934-70317753	HepG2	liver:	n/a	n/a
31	HEY1	chr14:70316364-70317793	HepG2	liver:	n/a	chr14:70317162-70317177
32	EP300	chr14:70316815-70317897	HepG2	liver:	n/a	chr14:70317454-70317468
33	MAZ	chr14:70316918-70317781	HepG2	liver:	n/a	n/a
34	MYC	chr14:70316987-70317256	HepG2	liver:	n/a	n/a
35	RAD21	chr14:70316861-70317393	HepG2	liver:	n/a	chr14:70317223-70317237 chr14:70317222-70317235
36	TAF1	chr14:70316924-70317314	HepG2	liver:	n/a	n/a
37	FOXA1	chr14:70316855-70317906	HepG2	liver:	n/a	n/a
38	JUND	chr14:70316910-70317406	HepG2	liver:	n/a	chr14:70317248-70317259 chr14:70317170-70317179 chr14:70317250-70317258
39	TEAD4	chr14:70316814-70318056	HepG2	liver:	n/a	n/a
40	FOXA1	chr14:70316929-70317919	HepG2	liver:	n/a	n/a
41	EP300	chr14:70316900-70317924	HepG2	liver:	n/a	chr14:70317454-70317468
42	POLR2A	chr14:70315656-70317692	HepG2	liver:	n/a	n/a
43	SIN3AK20	chr14:70317095-70317370	HepG2	liver:	n/a	n/a
44	CTCF	chr14:70317100-70317250	HepG2	liver:	n/a	chr14:70317223-70317236 chr14:70317226-70317239
45	POLR2A	chr14:70316339-70317423	HepG2	liver:	n/a	n/a
46	YY1	chr14:70316990-70317310	GM12892	blood:	n/a	chr14:70317017-70317031 chr14:70317163-70317174
47	HNF4A	chr14:70316903-70317407	HepG2	liver:	n/a	chr14:70317345-70317357 chr14:70317344-70317357 chr14:70317342-70317360 chr14:70317345-70317358 chr14:70317344-70317358 chr14:70317345-70317357
48	FOSL2	chr14:70317020-70317452	MCF-7	breast:	n/a	chr14:70317170-70317179 chr14:70317250-70317258
49	FOXA1	chr14:70316907-70317942	HepG2	liver:	n/a	n/a
50	YY1	chr14:70316624-70317434	HepG2	liver:	n/a	chr14:70317017-70317031 chr14:70317163-70317174 chr14:70316877-70316891 chr14:70316798-70316814

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70317075-70317125	SK-N-MC	brain:	n/a
2	chr14:70317075-70317125	GM12892	blood:	n/a
3	chr14:70317075-70317125	GM12878	blood:	n/a
4	chr14:70317075-70317125	GM06990	blood:	n/a
5	chr14:70317075-70317125	HEK293	kidney:	embryo
6	chr14:70317075-70317125	NT2-D1	testis:	n/a
7	chr14:70317075-70317125	H1-hESC	embryonic stem cell:	embryo
8	chr14:70317075-70317125	ProgFib	skin:	n/a
9	chr14:70317075-70317125	GM12891	blood:	n/a
10	chr14:70317075-70317125	ovcar-3	ovarian:	n/a
11	chr14:70317075-70317125	SKMC	muscle:	n/a
12	chr14:70317075-70317125	HNPCEpiC	eye:	n/a
13	chr14:70317075-70317125	AG04449	skin:	fetal
14	chr14:70317075-70317125	HL-60	blood:	n/a
15	chr14:70317075-70317125	HCF	heart:	n/a
16	chr14:70317075-70317125	ECC-1	luminal epithelium:	n/a
17	chr14:70317075-70317125	SK-N-SH_RA	brain:	n/a
18	chr14:70317075-70317125	CMK	blood:	n/a
19	chr14:70317075-70317125	Hela-S3	cervix:	n/a
20	chr14:70317075-70317125	RPTEC	kidney:	n/a
21	chr14:70317075-70317125	HepG2	liver:	n/a
22	chr14:70317075-70317125	T-47D	breast:	n/a
23	chr14:70317075-70317125	PFSK-1	brain:	n/a
24	chr14:70317075-70317125	Jurkat	blood:	n/a
25	chr14:70317075-70317125	HUVEC	blood vessel:	n/a
26	chr14:70317075-70317125	HCT-116	colon:	n/a
27	chr14:70317075-70317125	HMEC	breast:	n/a
28	chr14:70317075-70317125	HRCEpiC	kidney:	n/a
29	chr14:70317075-70317125	NB4	blood:	n/a
30	chr14:70317075-70317125	LNCaP	prostate:	n/a
31	chr14:70317075-70317125	A549	lung:	n/a
32	chr14:70317075-70317125	SK-N-SH	brain:	n/a
33	chr14:70317075-70317125	Hepatocyte	liver:	n/a
34	chr14:70317075-70317125	K562	blood:	n/a
35	chr14:70317075-70317125	AG04450	lung:	fetal
36	chr14:70317075-70317125	Caco-2	colon:	n/a
37	chr14:70317075-70317125	MCF10A-Er-Src	breast:	n/a
38	chr14:70317075-70317125	HIPEpiC	eye:	n/a
39	chr14:70317075-70317125	HAEpiC	amniotic membrane:	n/a
40	chr14:70317075-70317125	NHBE	bronchial:	n/a
41	chr14:70317075-70317125	HEEpiC	esophagus:	n/a
42	chr14:70317075-70317125	NH-A	brain:	n/a
43	chr14:70317075-70317125	AG09309	skin:	n/a
44	chr14:70317075-70317125	HRE	kidney:	n/a
45	chr14:70317075-70317125	HCPEpiC	choroid plexus:	n/a
46	chr14:70317075-70317125	AG10803	skin:	n/a
47	chr14:70317075-70317125	NHDF-neo	bronchial:	n/a
48	chr14:70317075-70317125	SAEC	small airway:	n/a
49	chr14:70317075-70317125	IMR90	lung:	fetal
50	chr14:70317075-70317125	AoSMC	blood vessel:	n/a

Variant related genes	Relation type
SMOC1	TF binding region
SMOC1	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73286939	0.81[AMR][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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70313200-70318200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:70315000-70317400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:70315800-70317400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:70316200-70320000	Enhancers	Fetal Brain Male	brain
5	chr14:70316400-70317800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr14:70316600-70317200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:70316600-70317400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:70316600-70317400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:70316600-70317400	Active TSS	Liver	Liver
10	chr14:70316600-70317400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
11	chr14:70316600-70317400	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr14:70316600-70321800	Weak transcription	Hela-S3	cervix
13	chr14:70316800-70317200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:70316800-70317200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr14:70316800-70317200	Flanking Active TSS	Placenta	Placenta
16	chr14:70316800-70317400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:70316800-70317400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:70316800-70317400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
19	chr14:70316800-70317400	Active TSS	Brain Angular Gyrus	brain
20	chr14:70316800-70317400	Active TSS	Brain Anterior Caudate	brain
21	chr14:70316800-70317400	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr14:70316800-70317400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
23	chr14:70316800-70317400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
24	chr14:70316800-70317400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:70316800-70317400	Active TSS	Duodenum Mucosa	Duodenum
26	chr14:70316800-70317400	ZNF genes & repeats	Fetal Intestine Large	intestine
27	chr14:70316800-70317400	Active TSS	Fetal Intestine Small	intestine
28	chr14:70316800-70317400	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr14:70316800-70317400	Active TSS	Psoas Muscle	Psoas
30	chr14:70316800-70317400	Active TSS	HepG2	liver
31	chr14:70316800-70317400	Active TSS	HSMM	muscle
32	chr14:70316800-70317400	Bivalent/Poised TSS	NH-A	brain
33	chr14:70317000-70317200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr14:70317000-70317200	Bivalent Enhancer	Fetal Stomach	stomach
35	chr14:70317000-70317400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:70317000-70317400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:70317000-70317400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:70317000-70317400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:70317000-70317400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
40	chr14:70317000-70317400	Flanking Active TSS	Fetal Brain Female	brain
41	chr14:70317000-70317400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr14:70317000-70317400	Active TSS	Pancreas	Pancrea
43	chr14:70317000-70317400	Enhancers	Spleen	Spleen
44	chr14:70317000-70317400	Flanking Active TSS	HSMMtube	muscle
45	chr14:70317000-70320000	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links