Variant report

Variant	rs41300716
Chromosome Location	chr7:99277068-99277069
allele	A/G
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	CBX3	chr7:99276567-99277403	HCT-116	colon:	n/a	n/a
2	FOSL2	chr7:99276627-99277105	SK-N-SH	brain:	n/a	chr7:99276830-99276840 chr7:99276830-99276839 chr7:99276832-99276843 chr7:99276830-99276840
3	JUN	chr7:99276657-99277260	K562	blood:	n/a	chr7:99276830-99276840 chr7:99276830-99276839 chr7:99276832-99276843 chr7:99276830-99276840
4	POLR2A	chr7:99276850-99277903	SK-N-MC	brain:	n/a	n/a
5	GABPA	chr7:99276604-99277094	A549	lung:	n/a	n/a
6	MAX	chr7:99276534-99277351	A549	lung:	n/a	n/a
7	SP1	chr7:99276510-99277160	A549	lung:	n/a	chr7:99276950-99276964
8	PML	chr7:99276981-99277853	K562	blood:	n/a	n/a
9	ARID3A	chr7:99276641-99277198	HepG2	liver:	n/a	n/a
10	JUND	chr7:99276613-99277888	K562	blood:	n/a	chr7:99276830-99276840 chr7:99276830-99276839 chr7:99276832-99276843 chr7:99276830-99276840 chr7:99276829-99276840
11	NFIC	chr7:99276677-99277069	HepG2	liver:	n/a	n/a
12	RCOR1	chr7:99276674-99277099	K562	blood:	n/a	n/a
13	TAF7	chr7:99277055-99277761	K562	blood:	n/a	n/a
14	FOSL1	chr7:99276654-99277095	K562	blood:	n/a	chr7:99276830-99276840 chr7:99276830-99276839 chr7:99276832-99276843 chr7:99276829-99276840 chr7:99276830-99276840
15	EP300	chr7:99276662-99277949	K562	blood:	n/a	chr7:99276831-99276840
16	MAX	chr7:99276603-99277314	A549	lung:	n/a	n/a
17	ZMIZ1	chr7:99276818-99277778	K562	blood:	n/a	n/a
18	JUND	chr7:99276529-99277226	HCT-116	colon:	n/a	chr7:99276830-99276840 chr7:99276830-99276839 chr7:99276832-99276843 chr7:99276830-99276840 chr7:99276829-99276840
19	FOSL1	chr7:99276557-99277274	HCT-116	colon:	n/a	chr7:99276830-99276840 chr7:99276830-99276839 chr7:99276832-99276843 chr7:99276829-99276840 chr7:99276830-99276840
20	SP1	chr7:99276511-99277135	A549	lung:	n/a	chr7:99276950-99276964
21	JUND	chr7:99276585-99277104	A549	lung:	n/a	chr7:99276830-99276840 chr7:99276830-99276839 chr7:99276832-99276843 chr7:99276830-99276840 chr7:99276829-99276840
22	ZNF143	chr7:99277065-99277089	H1-hESC	embryonic stem cell:	n/a	chr7:99277071-99277086
23	FOSL2	chr7:99276597-99277119	A549	lung:	n/a	chr7:99276830-99276840 chr7:99276830-99276839 chr7:99276832-99276843 chr7:99276830-99276840
24	MAFF	chr7:99276896-99277779	K562	blood:	n/a	n/a
25	KAP1	chr7:99276780-99277804	U2OS	brain:	n/a	n/a
26	TBP	chr7:99277027-99277846	K562	blood:	n/a	n/a
27	CUX1	chr7:99276715-99277916	K562	blood:	n/a	n/a
28	PML	chr7:99277034-99277894	K562	blood:	n/a	n/a
29	TCF12	chr7:99276476-99277303	A549	lung:	n/a	chr7:99276550-99276558 chr7:99276960-99276970
30	POLR2A	chr7:99277044-99277894	K562	blood:	n/a	n/a
31	JUN	chr7:99276642-99277070	K562	blood:	n/a	chr7:99276830-99276840 chr7:99276830-99276839 chr7:99276832-99276843 chr7:99276830-99276840
32	E2F6	chr7:99276731-99277155	A549	lung:	n/a	n/a
33	BCL3	chr7:99276549-99277179	A549	lung:	n/a	n/a
34	FOXA2	chr7:99276596-99277099	A549	lung:	n/a	n/a
35	RCOR1	chr7:99276642-99277950	K562	blood:	n/a	n/a
36	MAFK	chr7:99276857-99277817	K562	blood:	n/a	chr7:99277124-99277135
37	KAP1	chr7:99276725-99277742	HEK293	kidney:	n/a	n/a
38	POLR2A	chr7:99276615-99277086	HCT-116	colon:	n/a	n/a
39	FOSL2	chr7:99276448-99277274	A549	lung:	n/a	chr7:99276830-99276840 chr7:99276830-99276839 chr7:99276832-99276843 chr7:99276830-99276840
40	TEAD4	chr7:99276555-99277892	K562	blood:	n/a	n/a
41	MYBL2	chr7:99276560-99277142	HepG2	liver:	n/a	n/a
42	CBX3	chr7:99276604-99277308	K562	blood:	n/a	n/a
43	SMC3	chr7:99276929-99277119	K562	blood:	n/a	n/a
44	ZNF143	chr7:99276938-99277788	K562	blood:	n/a	chr7:99277071-99277086
45	CEBPD	chr7:99276691-99278016	K562	blood:	n/a	n/a
46	TEAD4	chr7:99277045-99277879	K562	blood:	n/a	n/a
47	TAL1	chr7:99276819-99277103	K562	blood:	n/a	n/a
48	BCLAF1	chr7:99277067-99277817	K562	blood:	n/a	chr7:99277796-99277803
49	POLR2A	chr7:99277058-99277855	K562	blood:	n/a	n/a
50	MAZ	chr7:99276639-99277153	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99272011..99273927-chr7:99275707..99277510,2	K562	blood:

Variant related genes	Relation type
CYP3A5	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10252115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10259288	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10264022	1.00[AMR][1000 genomes]
rs10266141	0.83[AMR][1000 genomes]
rs13437714	0.83[AMR][1000 genomes]
rs28508567	1.00[AMR][1000 genomes]
rs28532224	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41301676	0.83[AMR][1000 genomes]
rs45559433	0.83[AMR][1000 genomes]
rs58443342	0.83[AMR][1000 genomes]
rs73408523	1.00[AMR][1000 genomes]

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	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv970911	chr7:99275492-99333590	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99243000-99278800	Weak transcription	Brain Angular Gyrus	brain
2	chr7:99263600-99277400	Weak transcription	Aorta	Aorta
3	chr7:99273800-99290400	Weak transcription	Primary T cells from cord blood	blood
4	chr7:99275000-99277600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr7:99275000-99277600	Active TSS	Stomach Mucosa	stomach
6	chr7:99275400-99277400	Active TSS	Fetal Stomach	stomach
7	chr7:99275400-99277800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr7:99275600-99277800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr7:99275800-99277600	Active TSS	Colonic Mucosa	Colon
10	chr7:99275800-99277600	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr7:99276000-99277600	Active TSS	Duodenum Mucosa	Duodenum
12	chr7:99276000-99277600	Active TSS	Esophagus	oesophagus
13	chr7:99276000-99277600	Active TSS	Gastric	stomach
14	chr7:99276000-99277600	Flanking Active TSS	A549	lung
15	chr7:99276000-99278200	Enhancers	HepG2	liver
16	chr7:99276400-99277200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:99276400-99277600	Active TSS	Fetal Lung	lung
18	chr7:99276400-99277800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr7:99276400-99277800	Enhancers	Hela-S3	cervix
20	chr7:99276600-99277200	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr7:99276600-99277200	Enhancers	HMEC	breast
22	chr7:99276600-99277400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:99276600-99277400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr7:99276600-99277400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr7:99276600-99277400	Flanking Active TSS	NHEK	skin
26	chr7:99276600-99277600	Active TSS	Colon Smooth Muscle	Colon
27	chr7:99276600-99277600	Active TSS	NHDF-Ad	bronchial
28	chr7:99276600-99277600	Active TSS	NHLF	lung
29	chr7:99276600-99277800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:99276600-99277800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:99276600-99278200	Flanking Active TSS	K562	blood
32	chr7:99276800-99277200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr7:99276800-99277200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr7:99276800-99277200	Flanking Active TSS	Lung	lung
35	chr7:99276800-99277200	Flanking Active TSS	Pancreas	Pancrea
36	chr7:99276800-99277200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr7:99276800-99277600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:99276800-99277600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:99276800-99277600	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr7:99276800-99277600	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr7:99276800-99277600	Active TSS	Stomach Smooth Muscle	stomach
42	chr7:99276800-99277800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:99276800-99277800	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr7:99276800-99277800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr7:99276800-99278400	Enhancers	Psoas Muscle	Psoas
46	chr7:99277000-99277200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:99277000-99277200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:99277000-99277200	Active TSS	Fetal Intestine Small	intestine
49	chr7:99277000-99277400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:99277000-99277400	ZNF genes & repeats	Fetal Brain Male	brain

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