Variant report

Variant	rs371587907
Chromosome Location	chr16:48644233-48644234
allele	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	ARID3A	chr16:48644037-48644641	HepG2	liver:	n/a	n/a
2	ELK1	chr16:48644052-48644437	Hela-S3	cervix:	n/a	n/a
3	SIN3AK20	chr16:48644085-48644393	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr16:48643176-48644631	H1-neurons	neurons:	n/a	n/a
5	TRIM28	chr16:48644084-48644562	K562	blood:	n/a	n/a
6	FOS	chr16:48644078-48644356	MCF10A-Er-Src	breast:	n/a	n/a
7	REST	chr16:48644114-48644706	A549	lung:	n/a	n/a
8	MAX	chr16:48643354-48644446	K562	blood:	n/a	n/a
9	ELF1	chr16:48644003-48644336	K562	blood:	n/a	n/a
10	TBP	chr16:48644032-48644597	GM12878	blood:	n/a	n/a
11	YY1	chr16:48643491-48644547	H1-hESC	embryonic stem cell:	n/a	chr16:48644222-48644232 chr16:48644222-48644244 chr16:48644164-48644173 chr16:48644085-48644094 chr16:48644225-48644233 chr16:48643599-48643613 chr16:48643608-48643617 chr16:48643605-48643614
12	SRF	chr16:48644016-48644327	HepG2	liver:	n/a	n/a
13	ETS1	chr16:48644001-48644253	K562	blood:	n/a	n/a
14	CREB1	chr16:48643922-48644708	ECC-1	luminal epithelium:	n/a	chr16:48644205-48644218
15	GABPA	chr16:48644018-48644281	HepG2	liver:	n/a	n/a
16	CTCF	chr16:48644100-48644250	GM12864	blood:	n/a	chr16:48644166-48644179 chr16:48644164-48644182
17	CTCF	chr16:48644100-48644250	AoAF	blood vessel:	n/a	chr16:48644166-48644179 chr16:48644164-48644182
18	POLR2A	chr16:48643623-48644598	PFSK-1	brain:	n/a	n/a
19	CTCF	chr16:48643799-48644342	IMR90	lung:	n/a	chr16:48644166-48644179 chr16:48644164-48644182
20	NFATC1	chr16:48644078-48644596	GM12878	blood:	n/a	n/a
21	ELF1	chr16:48643982-48644381	HepG2	liver:	n/a	n/a
22	SRF	chr16:48643995-48644339	K562	blood:	n/a	n/a
23	CCNT2	chr16:48643266-48644310	K562	blood:	n/a	chr16:48643608-48643617 chr16:48643338-48643347
24	CTCF	chr16:48644138-48644233	ProgFib	skin:	n/a	chr16:48644166-48644179 chr16:48644164-48644182
25	STAT5A	chr16:48644101-48644490	GM12878	blood:	n/a	n/a
26	YY1	chr16:48644040-48644351	HCT-116	colon:	n/a	chr16:48644222-48644232 chr16:48644222-48644244 chr16:48644164-48644173 chr16:48644085-48644094 chr16:48644225-48644233
27	RELA	chr16:48643238-48644500	GM18951	blood:	n/a	n/a
28	POLR2A	chr16:48643353-48644473	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr16:48644100-48644250	GM12875	blood:	n/a	chr16:48644166-48644179 chr16:48644164-48644182
30	CREB1	chr16:48643977-48644468	A549	lung:	n/a	chr16:48644205-48644218
31	CTCF	chr16:48644120-48644264	GM20000	blood:	n/a	chr16:48644166-48644179 chr16:48644164-48644182
32	MYC	chr16:48644062-48644280	MCF-7	breast:	n/a	n/a
33	YY1	chr16:48643673-48644504	HCT-116	colon:	n/a	chr16:48644222-48644232 chr16:48644222-48644244 chr16:48644164-48644173 chr16:48644085-48644094 chr16:48644225-48644233
34	ATF2	chr16:48644005-48644463	H1-hESC	embryonic stem cell:	n/a	chr16:48644206-48644217
35	CTCF	chr16:48644108-48644267	MCF-7	breast:	n/a	chr16:48644166-48644179 chr16:48644164-48644182
36	YY1	chr16:48643574-48644809	GM12878	blood:	n/a	chr16:48644222-48644232 chr16:48644222-48644244 chr16:48644164-48644173 chr16:48644085-48644094 chr16:48644225-48644233 chr16:48643599-48643613 chr16:48643608-48643617 chr16:48643605-48643614
37	JUN	chr16:48644012-48644604	K562	blood:	n/a	chr16:48644206-48644219
38	HEY1	chr16:48643605-48644572	HepG2	liver:	n/a	chr16:48644208-48644217
39	CTCF	chr16:48644060-48644404	K562	blood:	n/a	chr16:48644166-48644179 chr16:48644164-48644182
40	CREB1	chr16:48643618-48644519	A549	lung:	n/a	chr16:48644205-48644218
41	ATF2	chr16:48644043-48644423	H1-hESC	embryonic stem cell:	n/a	chr16:48644206-48644217
42	MAZ	chr16:48643201-48644606	GM12878	blood:	n/a	n/a
43	MYC	chr16:48643273-48644356	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr16:48643647-48644420	Gliobla	brain:	n/a	n/a
45	TCF7L2	chr16:48644034-48644577	Hela-S3	cervix:	n/a	chr16:48644271-48644285
46	POLR2A	chr16:48643411-48644746	Raji	blood:	n/a	n/a
47	MAZ	chr16:48643977-48644527	HepG2	liver:	n/a	n/a
48	JUND	chr16:48643979-48644344	HepG2	liver:	n/a	n/a
49	FOS	chr16:48644082-48644252	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr16:48643674-48644519	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:48644198-48644248	HPAEpiC	pulmonary alveolar:	n/a
2	chr16:48644198-48644248	LNCaP	prostate:	n/a
3	chr16:48644211-48644261	A549	lung:	n/a
4	chr16:48644198-48644248	AG04450	lung:	fetal
5	chr16:48644211-48644261	GM12892	blood:	n/a
6	chr16:48644198-48644248	HCT-116	colon:	n/a
7	chr16:48644198-48644248	SK-N-SH_RA	brain:	n/a
8	chr16:48644198-48644248	GM12891	blood:	n/a
9	chr16:48644198-48644248	IMR90	lung:	fetal
10	chr16:48644198-48644248	AG04449	skin:	fetal
11	chr16:48644198-48644248	HEEpiC	esophagus:	n/a
12	chr16:48644211-48644261	NHBE	bronchial:	n/a
13	chr16:48644211-48644261	ECC-1	luminal epithelium:	n/a
14	chr16:48644198-48644248	ECC-1	luminal epithelium:	n/a
15	chr16:48644211-48644261	HNPCEpiC	eye:	n/a
16	chr16:48644198-48644248	MCF10A-Er-Src	breast:	n/a
17	chr16:48644198-48644248	HRCEpiC	kidney:	n/a
18	chr16:48644198-48644248	CMK	blood:	n/a
19	chr16:48644198-48644248	NT2-D1	testis:	n/a
20	chr16:48644198-48644248	HAEpiC	amniotic membrane:	n/a
21	chr16:48644198-48644248	Hela-S3	cervix:	n/a
22	chr16:48644198-48644248	Hepatocyte	liver:	n/a
23	chr16:48644198-48644248	BJ	skin:	n/a
24	chr16:48644198-48644248	NHDF-neo	bronchial:	n/a
25	chr16:48644211-48644261	AG04449	skin:	fetal
26	chr16:48644211-48644261	H1-hESC	embryonic stem cell:	embryo
27	chr16:48644211-48644261	GM06990	blood:	n/a
28	chr16:48644211-48644261	ProgFib	skin:	n/a
29	chr16:48644198-48644248	H1-hESC	embryonic stem cell:	embryo
30	chr16:48644198-48644248	HRE	kidney:	n/a
31	chr16:48644211-48644261	NH-A	brain:	n/a
32	chr16:48644211-48644261	SK-N-SH	brain:	n/a
33	chr16:48644198-48644248	HL-60	blood:	n/a
34	chr16:48644211-48644261	NT2-D1	testis:	n/a
35	chr16:48644211-48644261	BJ	skin:	n/a
36	chr16:48644211-48644261	CMK	blood:	n/a
37	chr16:48644211-48644261	MCF-7	breast:	n/a
38	chr16:48644211-48644261	HRCEpiC	kidney:	n/a
39	chr16:48644198-48644248	AG09309	skin:	n/a
40	chr16:48644211-48644261	SK-N-SH_RA	brain:	n/a
41	chr16:48644198-48644248	PFSK-1	brain:	n/a
42	chr16:48644211-48644261	U87	brain:	n/a
43	chr16:48644198-48644248	SK-N-MC	brain:	n/a
44	chr16:48644198-48644248	PANC-1	pancreas:	n/a
45	chr16:48644198-48644248	HEK293	kidney:	embryo
46	chr16:48644198-48644248	HUVEC	blood vessel:	n/a
47	chr16:48644211-48644261	PrEC	prostate:	n/a
48	chr16:48644211-48644261	HMEC	breast:	n/a
49	chr16:48644211-48644261	SK-N-MC	brain:	n/a
50	chr16:48644211-48644261	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:48642624..48645570-chr16:48653678..48655637,3	MCF-7	breast:
2	chr16:48643658..48644234-chr6:26157660..26158431,2	Hela-S3	cervix:
3	chr16:48417371..48420713-chr16:48642499..48645364,3	K562	blood:
4	chr16:48636374..48639117-chr16:48642848..48644889,3	MCF-7	breast:
5	chr16:48278224..48281613-chr16:48642327..48645557,3	MCF-7	breast:
6	chr16:48418015..48420544-chr16:48643775..48645908,3	MCF-7	breast:
7	chr16:48398982..48401730-chr16:48643542..48645764,2	K562	blood:
8	chr16:48611677..48614965-chr16:48642822..48645500,3	MCF-7	breast:
9	chr1:45186967..45187640-chr16:48643672..48644651,2	HCT-116	colon:
10	chr16:48591602..48593821-chr16:48642725..48645233,2	MCF-7	breast:
11	chr16:48417956..48420702-chr16:48642244..48644303,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LONP2-9	chr16:48644181-48644429	NONHSAT142349

Variant related genes	Relation type
N4BP1	TF binding region
N4BP1	CpG island
ENSG00000196470	Chromatin interaction
ENSG00000102921	Chromatin interaction
ENSG00000121270	Chromatin interaction
ENSG00000259912	Chromatin interaction
ENSG00000261267	Chromatin interaction
ENSG00000102910	Chromatin interaction
ENSG00000243609	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv3405809	chr16:48642876-48645424	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3422336	chr16:48643001-48645099	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48641200-48644600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:48641800-48644400	Active TSS	Stomach Mucosa	stomach
3	chr16:48641800-48644400	Active TSS	HSMMtube	muscle
4	chr16:48641800-48644800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr16:48641800-48644800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:48641800-48644800	Active TSS	HSMM	muscle
7	chr16:48641800-48645200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr16:48642000-48644600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:48642000-48644600	Active TSS	Esophagus	oesophagus
10	chr16:48642000-48644800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr16:48642200-48644800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr16:48642200-48644800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:48642200-48644800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr16:48642400-48644400	Active TSS	Lung	lung
15	chr16:48642400-48644600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:48642400-48644600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr16:48642400-48644600	Active TSS	Ovary	ovary
18	chr16:48642400-48644600	Active TSS	GM12878-XiMat	blood
19	chr16:48642400-48644800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:48642600-48644400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr16:48642600-48644400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr16:48642600-48644400	Active TSS	Duodenum Mucosa	Duodenum
23	chr16:48642600-48644400	Active TSS	Fetal Intestine Small	intestine
24	chr16:48642600-48644400	Active TSS	NHEK	skin
25	chr16:48642600-48644600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:48642600-48644600	Active TSS	Right Ventricle	heart
27	chr16:48642600-48644600	Active TSS	NHLF	lung
28	chr16:48642600-48644800	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr16:48642600-48644800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr16:48642600-48644800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr16:48642600-48644800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:48642600-48644800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:48642600-48644800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr16:48642600-48644800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:48642600-48645000	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr16:48642800-48644400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr16:48642800-48644400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr16:48642800-48644400	Active TSS	Gastric	stomach
39	chr16:48642800-48644400	Active TSS	NHDF-Ad	bronchial
40	chr16:48642800-48644600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr16:48642800-48644600	Active TSS	Brain Angular Gyrus	brain
42	chr16:48642800-48644600	Active TSS	Brain Substantia Nigra	brain
43	chr16:48642800-48644800	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr16:48642800-48644800	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr16:48642800-48644800	Active TSS	Colon Smooth Muscle	Colon
46	chr16:48642800-48644800	Active TSS	Fetal Kidney	kidney
47	chr16:48642800-48644800	Active TSS	Rectal Smooth Muscle	rectum
48	chr16:48642800-48644800	Active TSS	Osteobl	bone
49	chr16:48642800-48645000	Active TSS	A549	lung
50	chr16:48642800-48645200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links