Variant report

Variant	rs6848246
Chromosome Location	chr4:99915019-99915020
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr4:99914930-99915019	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:99914984-99915034	HRCEpiC	kidney:	n/a
2	chr4:99914984-99915034	LNCaP	prostate:	n/a
3	chr4:99914984-99915034	HRE	kidney:	n/a
4	chr4:99914984-99915034	HEEpiC	esophagus:	n/a
5	chr4:99914984-99915034	HEK293	kidney:	embryo
6	chr4:99914984-99915034	BJ	skin:	n/a
7	chr4:99914984-99915034	Caco-2	colon:	n/a
8	chr4:99914984-99915034	BE2_C	brain:	n/a
9	chr4:99914984-99915034	SK-N-SH	brain:	n/a
10	chr4:99914984-99915034	MCF-7	breast:	n/a
11	chr4:99914984-99915034	PrEC	prostate:	n/a
12	chr4:99914984-99915034	SK-N-MC	brain:	n/a
13	chr4:99914984-99915034	PANC-1	pancreas:	n/a
14	chr4:99914984-99915034	HCM	heart:	n/a
15	chr4:99914984-99915034	IMR90	lung:	fetal
16	chr4:99914984-99915034	ovcar-3	ovarian:	n/a
17	chr4:99914984-99915034	K562	blood:	n/a
18	chr4:99914984-99915034	MCF10A-Er-Src	breast:	n/a
19	chr4:99914984-99915034	SKMC	muscle:	n/a
20	chr4:99914984-99915034	CMK	blood:	n/a
21	chr4:99914984-99915034	NT2-D1	testis:	n/a
22	chr4:99914984-99915034	GM06990	blood:	n/a
23	chr4:99914984-99915034	Hela-S3	cervix:	n/a
24	chr4:99914984-99915034	PFSK-1	brain:	n/a
25	chr4:99914984-99915034	ECC-1	luminal epithelium:	n/a
26	chr4:99914984-99915034	NH-A	brain:	n/a
27	chr4:99914984-99915034	AG09319	gingival:	n/a
28	chr4:99914984-99915034	HAEpiC	amniotic membrane:	n/a
29	chr4:99914984-99915034	AoSMC	blood vessel:	n/a
30	chr4:99914984-99915034	HRPEpiC	eye:	n/a
31	chr4:99914984-99915034	NB4	blood:	n/a
32	chr4:99914984-99915034	ProgFib	skin:	n/a
33	chr4:99914984-99915034	AG09309	skin:	n/a
34	chr4:99914984-99915034	RPTEC	kidney:	n/a
35	chr4:99914984-99915034	NHDF-neo	bronchial:	n/a
36	chr4:99914984-99915034	GM12878	blood:	n/a
37	chr4:99914984-99915034	SAEC	small airway:	n/a
38	chr4:99914984-99915034	NHBE	bronchial:	n/a
39	chr4:99914984-99915034	HPAEpiC	pulmonary alveolar:	n/a
40	chr4:99914984-99915034	SK-N-SH_RA	brain:	n/a
41	chr4:99914984-99915034	HCT-116	colon:	n/a
42	chr4:99914984-99915034	HIPEpiC	eye:	n/a
43	chr4:99914984-99915034	HepG2	liver:	n/a
44	chr4:99914984-99915034	HCF	heart:	n/a
45	chr4:99914984-99915034	Jurkat	blood:	n/a
46	chr4:99914984-99915034	HMEC	breast:	n/a
47	chr4:99914984-99915034	U87	brain:	n/a
48	chr4:99914984-99915034	HNPCEpiC	eye:	n/a
49	chr4:99914984-99915034	HCPEpiC	choroid plexus:	n/a
50	chr4:99914984-99915034	HL-60	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:99859227..99861743-chr4:99914804..99916437,2	K562	blood:
2	chr4:99914813..99916738-chr4:99980811..99982387,2	MCF-7	breast:
3	chr4:99913236..99916407-chr4:99949384..99951097,3	K562	blood:
4	chr4:99846410..99852563-chr4:99914756..99918771,11	MCF-7	breast:
5	chr4:99842136..99852937-chr4:99913200..99922220,39	K562	blood:
6	chr4:99914937..99918533-chr4:100007922..100010203,4	K562	blood:
7	chr4:99844460..99852883-chr4:99909835..99921707,41	K562	blood:

No data

Variant related genes	Relation type
METAP1	TF binding region
MIR3684	TF binding region
MIR3684	CpG island
METAP1	CpG island
ENSG00000197894	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000246090	Chromatin interaction
ENSG00000151247	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10014193	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10016255	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10035037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1037475	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11097643	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11097645	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11721765	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11730116	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11731878	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11940529	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11944824	0.82[EUR][1000 genomes]
rs1230159	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs1230160	0.90[ASN][1000 genomes]
rs1230169	0.90[ASN][1000 genomes]
rs1230174	0.95[ASN][1000 genomes]
rs1230175	1.00[CHB][hapmap];0.87[YRI][hapmap];0.90[ASN][1000 genomes]
rs1230178	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs1230179	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs1230182	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs1230186	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs1230195	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs1230196	0.90[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs1230197	0.90[ASN][1000 genomes]
rs1230200	0.90[ASN][1000 genomes]
rs1230203	0.83[ASN][1000 genomes]
rs1230205	0.92[CHB][hapmap];0.86[ASN][1000 genomes]
rs1230206	0.92[CHB][hapmap];0.86[ASN][1000 genomes]
rs1230207	0.86[ASN][1000 genomes]
rs1230209	1.00[CHB][hapmap];0.93[YRI][hapmap];0.89[ASN][1000 genomes]
rs1234973	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs12374261	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1238741	0.92[CHB][hapmap];0.86[ASN][1000 genomes]
rs12512420	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1453871	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17216446	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1869459	0.86[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2123782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2167981	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2602910	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs28539514	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2866032	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35203362	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3974876	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57098596	0.86[ASN][1000 genomes]
rs62323229	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6817991	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6822589	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6840282	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840922	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846221	0.83[CEU][hapmap]
rs6846475	0.85[CEU][hapmap]
rs6850128	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6850293	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854386	0.86[ASN][1000 genomes]
rs7656935	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674319	0.85[CEU][hapmap]
rs7674742	0.83[CEU][hapmap]
rs7676259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7690818	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7696573	0.85[CEU][hapmap]
rs7696584	0.85[CEU][hapmap]
rs9332467	0.84[CEU][hapmap]
rs9685029	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9685062	0.97[ASN][1000 genomes]
rs9992105	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99912600-99915400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:99914200-99916200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:99914600-99915200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:99915000-99915200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:99915000-99915200	Enhancers	Esophagus	oesophagus
6	chr4:99915000-99915200	Enhancers	Pancreas	Pancrea
7	chr4:99915000-99915200	Enhancers	Right Atrium	heart
8	chr4:99915000-99915200	Enhancers	Right Ventricle	heart
9	chr4:99915000-99915600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:99915000-99915600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:99915000-99915600	Enhancers	Dnd41	blood
12	chr4:99915000-99915800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:99915000-99915800	Enhancers	HMEC	breast

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