Variant report

Variant	rs273981
Chromosome Location	chr7:137619275-137619276
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	RCOR1	chr7:137619109-137619530	K562	blood:	n/a	n/a
2	GATA1	chr7:137619171-137620653	PBDE	blood:	n/a	chr7:137619736-137619747 chr7:137620297-137620318
3	KAP1	chr7:137617572-137619548	HEK293	kidney:	n/a	n/a
4	MYC	chr7:137619177-137619899	NB4	blood:	n/a	chr7:137619391-137619401
5	IRF1	chr7:137618870-137620870	K562	blood:	n/a	chr7:137620102-137620116 chr7:137620105-137620118 chr7:137620106-137620116 chr7:137619175-137619185 chr7:137620105-137620116 chr7:137620106-137620120 chr7:137620105-137620118 chr7:137620105-137620118 chr7:137620636-137620648 chr7:137620104-137620115 chr7:137619173-137619186 chr7:137620100-137620117 chr7:137619175-137619186
6	MYC	chr7:137619177-137619996	K562	blood:	n/a	chr7:137619391-137619401
7	MAX	chr7:137619227-137619508	K562	blood:	n/a	chr7:137619391-137619401
8	MAX	chr7:137619229-137620030	NB4	blood:	n/a	chr7:137619391-137619401
9	MAX	chr7:137619107-137619570	K562	blood:	n/a	chr7:137619391-137619401
10	JUND	chr7:137619107-137619492	K562	blood:	n/a	n/a
11	BHLHE40	chr7:137619128-137619547	K562	blood:	n/a	n/a
12	IRF1	chr7:137618919-137620986	K562	blood:	n/a	chr7:137620102-137620116 chr7:137620105-137620118 chr7:137620106-137620116 chr7:137619175-137619185 chr7:137620105-137620116 chr7:137620106-137620120 chr7:137620105-137620118 chr7:137620105-137620118 chr7:137620636-137620648 chr7:137620104-137620115 chr7:137619173-137619186 chr7:137620100-137620117 chr7:137619175-137619186
13	POLR2A	chr7:137617304-137621222	K562	blood:	n/a	n/a
14	MYC	chr7:137618950-137619620	K562	blood:	n/a	chr7:137619391-137619401

No.	Distal block	Cell Line	Cell type
1	chr7:137619246..137622854-chr7:137682713..137686861,5	K562	blood:
2	chr7:137619156..137621856-chr7:137650615..137653310,2	MCF-7	breast:
3	chr7:137619037..137621217-chr7:137637185..137638746,2	MCF-7	breast:

Variant related genes	Relation type
CREB3L2	TF binding region
ENSG00000182158	Chromatin interaction
ENSG00000237243	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10275270	0.82[GIH][hapmap]
rs110595	0.89[ASN][1000 genomes]
rs112417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534066	0.82[GIH][hapmap]
rs273973	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs273974	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273975	0.81[JPT][hapmap]
rs273976	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs273977	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273978	0.87[JPT][hapmap]
rs273979	0.93[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs273980	0.93[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs273983	0.87[JPT][hapmap]
rs273984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273986	0.85[ASN][1000 genomes]
rs273987	0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs273988	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273991	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273992	0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs273994	0.87[JPT][hapmap]
rs273995	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273996	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273998	0.86[JPT][hapmap]
rs274000	0.87[JPT][hapmap]
rs274001	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs274002	0.96[CEU][hapmap];0.93[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.84[ASN][1000 genomes]
rs274003	0.85[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs274004	0.81[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs274005	0.81[JPT][hapmap]
rs274007	0.81[CEU][hapmap];0.91[GIH][hapmap]
rs274008	0.81[JPT][hapmap]
rs274009	0.81[JPT][hapmap]
rs274010	0.81[JPT][hapmap]
rs7795277	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9886131	0.81[JPT][hapmap]

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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137588800-137620200	Weak transcription	Dnd41	blood
2	chr7:137611400-137620600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:137612000-137620800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:137612800-137620400	Weak transcription	Fetal Lung	lung
5	chr7:137613000-137621000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:137613200-137621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:137613400-137620200	Enhancers	Placenta	Placenta
8	chr7:137613600-137620800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:137614200-137620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:137614800-137621000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:137615000-137619800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:137615000-137619800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:137615000-137622200	Enhancers	HUVEC	blood vessel
14	chr7:137615400-137619400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:137615600-137635600	Weak transcription	Hela-S3	cervix
16	chr7:137616200-137622200	Enhancers	Fetal Intestine Large	intestine
17	chr7:137616800-137619400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:137617000-137619600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr7:137617000-137620600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr7:137617000-137622200	Enhancers	Small Intestine	intestine
21	chr7:137617000-137622400	Enhancers	Colon Smooth Muscle	Colon
22	chr7:137617200-137619400	Enhancers	Left Ventricle	heart
23	chr7:137617200-137619400	Enhancers	Pancreas	Pancrea
24	chr7:137617200-137619400	Enhancers	Rectal Smooth Muscle	rectum
25	chr7:137617200-137619600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr7:137617200-137619600	Enhancers	Gastric	stomach
27	chr7:137617200-137619600	Enhancers	Psoas Muscle	Psoas
28	chr7:137617200-137619800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr7:137617200-137619800	Enhancers	Right Atrium	heart
30	chr7:137617200-137620000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr7:137617200-137620000	Enhancers	NHEK	skin
32	chr7:137617200-137620200	Enhancers	Aorta	Aorta
33	chr7:137617200-137622200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:137617200-137627400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr7:137617400-137619400	Enhancers	Primary hematopoietic stem cells	blood
36	chr7:137617400-137619400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr7:137617400-137619400	Enhancers	Ovary	ovary
38	chr7:137617400-137619400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr7:137617400-137619600	Enhancers	Right Ventricle	heart
40	chr7:137617400-137619800	Enhancers	Primary B cells from peripheral blood	blood
41	chr7:137617400-137619800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr7:137617400-137622200	Enhancers	Fetal Heart	heart
43	chr7:137617400-137622200	Enhancers	HSMM	muscle
44	chr7:137617400-137622400	Enhancers	Fetal Muscle Leg	muscle
45	chr7:137617600-137619400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:137617600-137619400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr7:137617600-137619400	Enhancers	Brain Substantia Nigra	brain
48	chr7:137617600-137619400	Enhancers	Lung	lung
49	chr7:137617600-137620000	Enhancers	Esophagus	oesophagus
50	chr7:137617600-137621200	Genic enhancers	HepG2	liver

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