Variant report

Variant	rs1269641
Chromosome Location	chr7:107886930-107886931
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	NFIC	chr7:107886808-107887072	HepG2	liver:	n/a	n/a
2	CTCF	chr7:107886900-107887050	AG09319	gingival:	n/a	n/a
3	CTCF	chr7:107886900-107887050	HRE	kidney:	n/a	n/a
4	MXI1	chr7:107886708-107887117	HepG2	liver:	n/a	n/a
5	TEAD4	chr7:107886421-107887213	ECC-1	luminal epithelium:	n/a	n/a
6	NR3C1	chr7:107886596-107887106	A549	lung:	n/a	chr7:107886887-107886896
7	USF2	chr7:107886607-107887284	Hela-S3	cervix:	n/a	n/a
8	RAD21	chr7:107886593-107887295	A549	lung:	n/a	chr7:107886997-107887009
9	MXI1	chr7:107886784-107887139	Hela-S3	cervix:	n/a	n/a
10	TBL1XR1	chr7:107886416-107887343	K562	blood:	n/a	n/a
11	FOSL2	chr7:107886584-107887267	SK-N-SH	brain:	n/a	chr7:107886883-107886894 chr7:107886886-107886896 chr7:107886887-107886895 chr7:107886885-107886897 chr7:107887051-107887060 chr7:107886953-107886960 chr7:107886707-107886718 chr7:107886886-107886896
12	CTCF	chr7:107886801-107887165	K562	blood:	n/a	n/a
13	FOS	chr7:107886564-107887128	MCF10A-Er-Src	breast:	n/a	chr7:107886883-107886894 chr7:107886886-107886896 chr7:107886887-107886895 chr7:107886885-107886897 chr7:107887051-107887060 chr7:107886885-107886896 chr7:107886953-107886960 chr7:107886707-107886718 chr7:107886886-107886896
14	CTCF	chr7:107886880-107887030	NHLF	lung:	n/a	n/a
15	E2F4	chr7:107886646-107887195	MCF10A-Er-Src	breast:	n/a	chr7:107887052-107887061
16	JUND	chr7:107886536-107887222	A549	lung:	n/a	chr7:107886883-107886894 chr7:107886886-107886896 chr7:107886887-107886895 chr7:107886885-107886897 chr7:107887051-107887060 chr7:107886885-107886896 chr7:107886953-107886960 chr7:107886707-107886718 chr7:107886886-107886896
17	EP300	chr7:107886125-107887566	A549	lung:	n/a	chr7:107887022-107887036 chr7:107886142-107886156 chr7:107886292-107886306
18	ZKSCAN1	chr7:107886690-107887206	Hela-S3	cervix:	n/a	n/a
19	JUND	chr7:107886560-107887340	K562	blood:	n/a	chr7:107886883-107886894 chr7:107886886-107886896 chr7:107886887-107886895 chr7:107886885-107886897 chr7:107887051-107887060 chr7:107886885-107886896 chr7:107886953-107886960 chr7:107886707-107886718 chr7:107886886-107886896
20	MAFF	chr7:107886480-107887205	HepG2	liver:	n/a	chr7:107886953-107886971
21	TAF1	chr7:107886256-107886962	A549	lung:	n/a	n/a
22	BHLHE40	chr7:107886457-107887378	K562	blood:	n/a	n/a
23	TEAD4	chr7:107886435-107887061	ECC-1	luminal epithelium:	n/a	n/a
24	EP300	chr7:107886716-107887061	GM12878	blood:	n/a	chr7:107887022-107887036
25	CREB1	chr7:107886546-107887113	A549	lung:	n/a	n/a
26	JUN	chr7:107886571-107887238	K562	blood:	n/a	chr7:107886883-107886894 chr7:107886886-107886896 chr7:107886887-107886895 chr7:107886885-107886897 chr7:107887051-107887060 chr7:107886953-107886960 chr7:107886707-107886718 chr7:107886886-107886896
27	ATF1	chr7:107886598-107887221	K562	blood:	n/a	n/a
28	JUND	chr7:107886771-107887137	H1-hESC	embryonic stem cell:	n/a	chr7:107886883-107886894 chr7:107886886-107886896 chr7:107886887-107886895 chr7:107886885-107886897 chr7:107887051-107887060 chr7:107886885-107886896 chr7:107886953-107886960 chr7:107886886-107886896
29	EP300	chr7:107886426-107887229	K562	blood:	n/a	chr7:107887022-107887036
30	SP1	chr7:107886403-107887302	HCT-116	colon:	n/a	n/a
31	MYC	chr7:107886674-107887295	K562	blood:	n/a	n/a
32	CTCF	chr7:107886860-107887010	BE2_C	brain:	n/a	n/a
33	USF1	chr7:107886337-107887250	A549	lung:	n/a	n/a
34	EP300	chr7:107886736-107887092	SK-N-SH_RA	brain:	n/a	chr7:107887022-107887036
35	POLR2A	chr7:107886724-107887044	HCT-116	colon:	n/a	n/a
36	ZNF384	chr7:107886725-107887106	K562	blood:	n/a	n/a
37	CEBPB	chr7:107886862-107887197	HepG2	liver:	n/a	n/a
38	MYC	chr7:107886892-107887067	HUVEC	blood vessel:	n/a	n/a
39	MAZ	chr7:107886756-107887095	Hela-S3	cervix:	n/a	n/a
40	FOS	chr7:107886632-107887081	MCF10A-Er-Src	breast:	n/a	chr7:107886883-107886894 chr7:107886886-107886896 chr7:107886887-107886895 chr7:107886885-107886897 chr7:107887051-107887060 chr7:107886885-107886896 chr7:107886953-107886960 chr7:107886707-107886718 chr7:107886886-107886896
41	NR2F2	chr7:107886577-107887220	HepG2	liver:	n/a	chr7:107886916-107886931
42	CTCF	chr7:107886900-107887050	HMF	breast:	n/a	n/a
43	KAP1	chr7:107886703-107887369	U2OS	brain:	n/a	n/a
44	JUN	chr7:107886692-107887292	K562	blood:	n/a	chr7:107886883-107886894 chr7:107886886-107886896 chr7:107886887-107886895 chr7:107886885-107886897 chr7:107887051-107887060 chr7:107886953-107886960 chr7:107886707-107886718 chr7:107886886-107886896
45	EP300	chr7:107886254-107887339	ECC-1	luminal epithelium:	n/a	chr7:107887022-107887036 chr7:107886292-107886306
46	GABPA	chr7:107886415-107887159	A549	lung:	n/a	n/a
47	CTCF	chr7:107886900-107887050	HPAF	blood vessel:	n/a	n/a
48	CHD2	chr7:107886688-107887257	Hela-S3	cervix:	n/a	n/a
49	TRIM28	chr7:107886335-107887484	K562	blood:	n/a	n/a
50	RCOR1	chr7:107886327-107887295	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:107886896-107886946	HAEpiC	amniotic membrane:	n/a
2	chr7:107886896-107886946	HIPEpiC	eye:	n/a
3	chr7:107886896-107886946	BE2_C	brain:	n/a
4	chr7:107886896-107886946	HEEpiC	esophagus:	n/a
5	chr7:107886896-107886946	AG04450	lung:	fetal
6	chr7:107886896-107886946	ovcar-3	ovarian:	n/a
7	chr7:107886896-107886946	RPTEC	kidney:	n/a
8	chr7:107886896-107886946	T-47D	breast:	n/a
9	chr7:107886896-107886946	IMR90	lung:	fetal
10	chr7:107886896-107886946	PANC-1	pancreas:	n/a
11	chr7:107886896-107886946	HEK293	kidney:	embryo
12	chr7:107886896-107886946	HUVEC	blood vessel:	n/a
13	chr7:107886896-107886946	PrEC	prostate:	n/a
14	chr7:107886896-107886946	NB4	blood:	n/a
15	chr7:107886896-107886946	AG10803	skin:	n/a
16	chr7:107886896-107886946	ProgFib	skin:	n/a
17	chr7:107886896-107886946	Jurkat	blood:	n/a
18	chr7:107886896-107886946	GM19239	blood:	n/a
19	chr7:107886896-107886946	NHDF-neo	bronchial:	n/a
20	chr7:107886896-107886946	HRPEpiC	eye:	n/a
21	chr7:107886896-107886946	A549	lung:	n/a
22	chr7:107886896-107886946	NT2-D1	testis:	n/a
23	chr7:107886896-107886946	ECC-1	luminal epithelium:	n/a
24	chr7:107886896-107886946	Caco-2	colon:	n/a
25	chr7:107886896-107886946	HRCEpiC	kidney:	n/a
26	chr7:107886896-107886946	HL-60	blood:	n/a
27	chr7:107886896-107886946	GM12891	blood:	n/a
28	chr7:107886896-107886946	AG09319	gingival:	n/a
29	chr7:107886896-107886946	CMK	blood:	n/a
30	chr7:107886896-107886946	SAEC	small airway:	n/a
31	chr7:107886896-107886946	AG04449	skin:	fetal
32	chr7:107886896-107886946	H1-hESC	embryonic stem cell:	embryo
33	chr7:107886896-107886946	SK-N-MC	brain:	n/a
34	chr7:107886896-107886946	HCF	heart:	n/a
35	chr7:107886896-107886946	MCF10A-Er-Src	breast:	n/a
36	chr7:107886896-107886946	K562	blood:	n/a
37	chr7:107886896-107886946	AoSMC	blood vessel:	n/a
38	chr7:107886896-107886946	GM06990	blood:	n/a
39	chr7:107886896-107886946	MCF-7	breast:	n/a
40	chr7:107886896-107886946	HMEC	breast:	n/a
41	chr7:107886896-107886946	HCM	heart:	n/a
42	chr7:107886896-107886946	HepG2	liver:	n/a
43	chr7:107886896-107886946	GM12892	blood:	n/a
44	chr7:107886896-107886946	LNCaP	prostate:	n/a
45	chr7:107886896-107886946	NHBE	bronchial:	n/a
46	chr7:107886896-107886946	HCPEpiC	choroid plexus:	n/a
47	chr7:107886896-107886946	Hela-S3	cervix:	n/a
48	chr7:107886896-107886946	AG09309	skin:	n/a
49	chr7:107886896-107886946	NH-A	brain:	n/a
50	chr7:107886896-107886946	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:107885403..107887866-chr7:108208741..108211380,3	K562	blood:
2	chr7:107886563..107889560-chr7:107893965..107897090,3	MCF-7	breast:
3	chr7:107880432..107884512-chr7:107884667..107887859,3	MCF-7	breast:
4	chr7:107885764..107888071-chr7:107990459..107993788,3	MCF-7	breast:
5	chr7:107885444..107889446-chr7:107936320..107941216,4	MCF-7	breast:

Variant related genes	Relation type
NRCAM	TF binding region
NRCAM	CpG island
ENSG00000091129	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000177683	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1155	0.84[AMR][1000 genomes]
rs1269622	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1269623	0.89[EUR][1000 genomes]
rs1269625	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1269628	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1269629	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1269634	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1269639	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1269640	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1269642	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1269643	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1269645	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1269649	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1269650	0.85[AMR][1000 genomes]
rs1269651	0.84[AMR][1000 genomes]
rs1269652	0.83[EUR][1000 genomes]
rs1269653	0.83[EUR][1000 genomes]
rs1269655	0.84[AMR][1000 genomes]
rs1269656	0.84[AMR][1000 genomes]
rs1269659	0.82[AMR][1000 genomes]
rs36065373	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3819747	0.80[ASN][1000 genomes]
rs405945	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs422011	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6970096	0.88[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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107880600-107887000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:107884800-107890600	Weak transcription	Brain Substantia Nigra	brain
3	chr7:107885600-107887000	Enhancers	HSMM	muscle
4	chr7:107885600-107888400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:107885600-107889400	Enhancers	Osteobl	bone
6	chr7:107885800-107887600	Flanking Active TSS	A549	lung
7	chr7:107885800-107887600	Enhancers	NHLF	lung
8	chr7:107885800-107888400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:107886000-107887600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:107886000-107891200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr7:107886200-107887400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:107886200-107887400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:107886200-107887600	Enhancers	Hela-S3	cervix
14	chr7:107886200-107887800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:107886200-107889400	Enhancers	HMEC	breast
16	chr7:107886200-107889600	Enhancers	HUVEC	blood vessel
17	chr7:107886400-107887000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:107886400-107887000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:107886400-107887000	Enhancers	Adipose Nuclei	Adipose
20	chr7:107886400-107887200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:107886400-107887200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr7:107886400-107887200	Enhancers	Fetal Kidney	kidney
23	chr7:107886400-107887200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr7:107886400-107887400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:107886400-107887400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr7:107886400-107887400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:107886400-107887400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:107886400-107887400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:107886400-107887400	Enhancers	Fetal Intestine Small	intestine
30	chr7:107886400-107887400	Enhancers	Pancreas	Pancrea
31	chr7:107886400-107887600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:107886400-107887600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:107886400-107887600	Enhancers	Brain Anterior Caudate	brain
34	chr7:107886400-107887600	Enhancers	HepG2	liver
35	chr7:107886400-107887800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr7:107886400-107887800	Enhancers	Fetal Intestine Large	intestine
37	chr7:107886400-107888000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:107886400-107888400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:107886400-107888400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:107886400-107888400	Enhancers	NHEK	skin
41	chr7:107886600-107887000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:107886600-107887000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:107886600-107887000	Enhancers	Placenta	Placenta
44	chr7:107886600-107887000	Active TSS	Spleen	Spleen
45	chr7:107886600-107887000	Enhancers	GM12878-XiMat	blood
46	chr7:107886600-107887200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr7:107886600-107887200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr7:107886600-107887200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:107886600-107887200	Enhancers	Right Atrium	heart
50	chr7:107886600-107887200	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links