Variant report

Variant	rs7007
Chromosome Location	chr1:151735576-151735577
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:149)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:149 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:151735500-151735650	HPAF	blood vessel:	n/a	n/a
2	CTCF	chr1:151735520-151735670	HUVEC	blood vessel:	n/a	n/a
3	MAX	chr1:151735326-151736290	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr1:151735447-151736437	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr1:151735343-151736776	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr1:151735458-151736418	MCF-7	breast:	n/a	n/a
7	POLR2A	chr1:151735508-151735665	A549	lung:	n/a	n/a
8	SMARCB1	chr1:151735375-151736211	Hela-S3	cervix:	n/a	n/a
9	SIN3A	chr1:151735455-151736288	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr1:151735520-151735670	A549	lung:	n/a	n/a
11	POLR2A	chr1:151735154-151736379	ProgFib	skin:	n/a	n/a
12	POLR2A	chr1:151735513-151736282	Hela-S3	cervix:	n/a	n/a
13	HEY1	chr1:151735448-151735672	K562	blood:	n/a	n/a
14	YY1	chr1:151735404-151736275	ECC-1	luminal epithelium:	n/a	chr1:151735947-151735959
15	POLR2A	chr1:151735341-151736396	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr1:151735526-151736358	GM18526	blood:	n/a	n/a
17	CREB1	chr1:151735325-151736285	H1-hESC	embryonic stem cell:	n/a	n/a
18	HMGN3	chr1:151735460-151736185	K562	blood:	n/a	n/a
19	YY1	chr1:151735163-151736566	SK-N-SH	brain:	n/a	chr1:151735947-151735959
20	TBP	chr1:151735443-151736344	H1-hESC	embryonic stem cell:	n/a	n/a
21	TAF7	chr1:151735363-151736340	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:151735357-151736294	K562	blood:	n/a	n/a
23	MAX	chr1:151735267-151736267	NB4	blood:	n/a	n/a
24	POLR2A	chr1:151735356-151736799	K562	blood:	n/a	n/a
25	POLR2A	chr1:151735325-151736284	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr1:151735380-151736381	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr1:151735520-151735670	AG04449	skin:	n/a	n/a
28	YY1	chr1:151735415-151736439	A549	lung:	n/a	chr1:151735947-151735959
29	POLR2A	chr1:151735329-151735699	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr1:151735459-151736573	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:151735433-151736307	GM12892	blood:	n/a	n/a
32	MAX	chr1:151735338-151736214	K562	blood:	n/a	n/a
33	REST	chr1:151735052-151736534	H1-neurons	neurons:	n/a	n/a
34	GATA3	chr1:151735354-151736467	MCF-7	breast:	n/a	n/a
35	CTCF	chr1:151735500-151735650	AG04450	lung:	n/a	n/a
36	MAX	chr1:151735395-151735621	K562	blood:	n/a	n/a
37	MAX	chr1:151735210-151736453	MCF-7	breast:	n/a	n/a
38	MXI1	chr1:151735515-151736221	HepG2	liver:	n/a	n/a
39	ELF1	chr1:151735093-151736499	MCF-7	breast:	n/a	n/a
40	POLR2A	chr1:151735416-151736311	GM19193	blood:	n/a	n/a
41	POLR2A	chr1:151735358-151736382	HL-60	blood:	n/a	n/a
42	YY1	chr1:151735456-151736213	NT2-D1	testis:	n/a	chr1:151735947-151735959
43	TAF1	chr1:151735391-151735630	H1-hESC	embryonic stem cell:	n/a	n/a
44	TCF12	chr1:151735463-151736532	A549	lung:	n/a	n/a
45	ELF1	chr1:151735326-151736201	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:151735474-151736346	GM15510	blood:	n/a	n/a
47	MAZ	chr1:151735452-151736225	Hela-S3	cervix:	n/a	n/a
48	YY1	chr1:151735438-151736278	GM12891	blood:	n/a	chr1:151735947-151735959
49	POLR2A	chr1:151735442-151736308	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr1:151735437-151735689	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151735543-151735593	PANC-1	pancreas:	n/a
2	chr1:151735543-151735593	Caco-2	colon:	n/a
3	chr1:151735543-151735593	SK-N-MC	brain:	n/a
4	chr1:151735543-151735593	HCF	heart:	n/a
5	chr1:151735543-151735593	GM12891	blood:	n/a
6	chr1:151735543-151735593	HEK293	kidney:	embryo
7	chr1:151735543-151735593	RPTEC	kidney:	n/a
8	chr1:151735543-151735593	Hela-S3	cervix:	n/a
9	chr1:151735543-151735593	AoSMC	blood vessel:	n/a
10	chr1:151735543-151735593	MCF-7	breast:	n/a
11	chr1:151735543-151735593	NT2-D1	testis:	n/a
12	chr1:151735543-151735593	HPAEpiC	pulmonary alveolar:	n/a
13	chr1:151735543-151735593	PrEC	prostate:	n/a
14	chr1:151735543-151735593	SAEC	small airway:	n/a
15	chr1:151735543-151735593	BJ	skin:	n/a
16	chr1:151735543-151735593	HMEC	breast:	n/a
17	chr1:151735543-151735593	AG04450	lung:	fetal
18	chr1:151735543-151735593	AG04449	skin:	fetal
19	chr1:151735543-151735593	HCM	heart:	n/a
20	chr1:151735543-151735593	HRCEpiC	kidney:	n/a
21	chr1:151735543-151735593	Hepatocyte	liver:	n/a
22	chr1:151735543-151735593	CMK	blood:	n/a
23	chr1:151735543-151735593	SK-N-SH_RA	brain:	n/a
24	chr1:151735543-151735593	GM12878	blood:	n/a
25	chr1:151735543-151735593	HCPEpiC	choroid plexus:	n/a
26	chr1:151735543-151735593	K562	blood:	n/a
27	chr1:151735543-151735593	BE2_C	brain:	n/a
28	chr1:151735543-151735593	NHDF-neo	bronchial:	n/a
29	chr1:151735543-151735593	T-47D	breast:	n/a
30	chr1:151735543-151735593	HEEpiC	esophagus:	n/a
31	chr1:151735543-151735593	HNPCEpiC	eye:	n/a
32	chr1:151735543-151735593	AG09319	gingival:	n/a
33	chr1:151735543-151735593	NHBE	bronchial:	n/a
34	chr1:151735543-151735593	ovcar-3	ovarian:	n/a
35	chr1:151735543-151735593	HAEpiC	amniotic membrane:	n/a
36	chr1:151735543-151735593	NH-A	brain:	n/a
37	chr1:151735543-151735593	HL-60	blood:	n/a
38	chr1:151735543-151735593	AG09309	skin:	n/a
39	chr1:151735543-151735593	U87	brain:	n/a
40	chr1:151735543-151735593	PFSK-1	brain:	n/a
41	chr1:151735543-151735593	ECC-1	luminal epithelium:	n/a
42	chr1:151735543-151735593	GM19239	blood:	n/a
43	chr1:151735543-151735593	NB4	blood:	n/a
44	chr1:151735543-151735593	Jurkat	blood:	n/a
45	chr1:151735543-151735593	HRPEpiC	eye:	n/a
46	chr1:151735543-151735593	A549	lung:	n/a
47	chr1:151735543-151735593	AG10803	skin:	n/a
48	chr1:151735543-151735593	SK-N-SH	brain:	n/a
49	chr1:151735543-151735593	ProgFib	skin:	n/a
50	chr1:151735543-151735593	HepG2	liver:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151299097..151300902-chr1:151735248..151736836,2	MCF-7	breast:
2	chr1:151254636..151256899-chr1:151735426..151737662,3	MCF-7	breast:
3	chr1:151734278..151737585-chr1:151760529..151764689,8	MCF-7	breast:
4	chr1:151733895..151739384-chr1:151759968..151766425,14	MCF-7	breast:
5	chr1:151735081..151737738-chr1:151803314..151806226,2	MCF-7	breast:
6	chr1:151735509..151737891-chr1:151761737..151764631,3	K562	blood:
7	chr1:151735134..151736025-chr11:62608970..62609619,2	Hela-S3	cervix:
8	chr1:151505137..151506886-chr1:151734570..151737122,2	K562	blood:
9	chr1:151431438..151433634-chr1:151734265..151736700,2	K562	blood:
10	chr1:151734307..151737224-chr1:151809345..151813879,7	MCF-7	breast:
11	chr1:151717511..151721266-chr1:151734435..151738153,6	MCF-7	breast:
12	chr1:151225781..151228745-chr1:151734591..151737226,2	K562	blood:
13	chr1:151731676..151737592-chr1:151803957..151806544,6	MCF-7	breast:
14	chr1:151734439..151736812-chr1:152018817..152020911,2	MCF-7	breast:

No data

Variant related genes	Relation type
OAZ3	TF binding region
ENSG00000232937	TF binding region
MRPL9	TF binding region
OAZ3	CpG island
ENSG00000232937	CpG island
MRPL9	CpG island
ENSG00000133316	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000206980	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000225556	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1054479	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10788809	0.81[ASN][1000 genomes]
rs11204884	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11576810	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585294	0.81[ASN][1000 genomes]
rs11586446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586946	0.81[ASN][1000 genomes]
rs11588258	1.00[CHB][hapmap]
rs11588634	1.00[CHB][hapmap]
rs1196467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122917	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13376155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17568246	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2489890	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3790514	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3811415	0.81[ASN][1000 genomes]
rs4618976	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4845356	0.81[ASN][1000 genomes]
rs4845570	0.81[ASN][1000 genomes]
rs4845579	0.87[TSI][hapmap]
rs61815078	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6659705	0.81[ASN][1000 genomes]
rs6664467	0.84[ASN][1000 genomes]
rs6673002	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6673917	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6681093	0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.81[ASN][1000 genomes]
rs6683364	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6694952	0.81[ASN][1000 genomes]
rs7542898	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7007	FLG	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151734600-151735600	Weak transcription	Spleen	Spleen
2	chr1:151734800-151735600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:151734800-151735600	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr1:151734800-151735600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:151734800-151736200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr1:151734800-151736800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr1:151735000-151735600	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr1:151735000-151735600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr1:151735000-151735600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:151735000-151735600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr1:151735000-151735600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:151735000-151735600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:151735000-151735600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:151735000-151735600	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr1:151735000-151735600	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr1:151735000-151735600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr1:151735000-151735600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr1:151735000-151735600	Flanking Active TSS	NH-A	brain
19	chr1:151735000-151736400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:151735000-151736400	Active TSS	Brain Anterior Caudate	brain
21	chr1:151735000-151736400	Active TSS	HSMM	muscle
22	chr1:151735000-151736600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:151735000-151736600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:151735000-151736600	Active TSS	Fetal Kidney	kidney
25	chr1:151735000-151736600	Active TSS	NHDF-Ad	bronchial
26	chr1:151735000-151736800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:151735000-151736800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr1:151735000-151736800	Active TSS	NHLF	lung
29	chr1:151735000-151737000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:151735200-151735600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr1:151735200-151735600	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr1:151735200-151735600	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr1:151735200-151735600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr1:151735200-151735600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:151735200-151735600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr1:151735200-151735600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:151735200-151735600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr1:151735200-151735600	Flanking Active TSS	Liver	Liver
39	chr1:151735200-151735600	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr1:151735200-151735600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr1:151735200-151735600	Flanking Active TSS	Fetal Brain Male	brain
42	chr1:151735200-151735600	Flanking Active TSS	Pancreas	Pancrea
43	chr1:151735200-151735600	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr1:151735200-151736000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
45	chr1:151735200-151736200	Active TSS	Placenta	Placenta
46	chr1:151735200-151736400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:151735200-151736400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:151735200-151736400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr1:151735200-151736400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:151735200-151736400	Active TSS	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links