Variant report

Variant	rs886787
Chromosome Location	chr7:86850210-86850211
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	POLR2A	chr7:86847053-86850217	GM12891	blood:	n/a	n/a
2	GATA3	chr7:86848588-86850660	MCF-7	breast:	n/a	chr7:86849040-86849050
3	BHLHE40	chr7:86849778-86850475	K562	blood:	n/a	n/a
4	RCOR1	chr7:86848441-86850378	K562	blood:	n/a	n/a
5	POLR2A	chr7:86848110-86850225	IMR90	lung:	n/a	n/a
6	RFX5	chr7:86848853-86850782	IMR90	lung:	n/a	n/a
7	SMARCC1	chr7:86848020-86850642	Hela-S3	cervix:	n/a	n/a
8	MAX	chr7:86847292-86850397	GM12878	blood:	n/a	chr7:86849135-86849144 chr7:86850066-86850076 chr7:86849873-86849883 chr7:86849400-86849410
9	BACH1	chr7:86850019-86850462	K562	blood:	n/a	n/a
10	MAX	chr7:86849505-86850272	H1-hESC	embryonic stem cell:	n/a	chr7:86850066-86850076 chr7:86849873-86849883
11	STAT5A	chr7:86847774-86850308	GM12878	blood:	n/a	chr7:86848629-86848637 chr7:86848234-86848243 chr7:86848235-86848244 chr7:86848229-86848249
12	POLR2A	chr7:86848518-86850230	MCF-7	breast:	n/a	n/a
13	NFYA	chr7:86849752-86850443	Hela-S3	cervix:	n/a	chr7:86849949-86849959
14	MTA3	chr7:86845490-86850382	GM12878	blood:	n/a	n/a
15	MXI1	chr7:86845672-86850248	GM12878	blood:	n/a	chr7:86850067-86850076
16	MAFK	chr7:86850085-86850611	HepG2	liver:	n/a	chr7:86850321-86850337 chr7:86850318-86850334 chr7:86850322-86850336 chr7:86850319-86850339 chr7:86850318-86850333
17	RCOR1	chr7:86849480-86850253	Hela-S3	cervix:	n/a	n/a
18	ZNF263	chr7:86847905-86850472	HEK293-T-REx	kidney:	n/a	chr7:86848628-86848637
19	RELA	chr7:86847292-86850571	GM18951	blood:	n/a	n/a
20	USF2	chr7:86849995-86850751	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr7:86850120-86850270	MCF-7	breast:	n/a	n/a
22	ELF1	chr7:86848549-86850538	MCF-7	breast:	n/a	chr7:86849036-86849049 chr7:86849558-86849570 chr7:86849001-86849013 chr7:86849397-86849409 chr7:86849110-86849121 chr7:86849479-86849488
23	SIN3AK20	chr7:86848320-86850548	MCF-7	breast:	n/a	n/a
24	CTCF	chr7:86850060-86850210	SK-N-SH_RA	brain:	n/a	n/a
25	POLR2A	chr7:86845591-86850232	GM12878	blood:	n/a	n/a
26	TCF12	chr7:86848599-86850250	A549	lung:	n/a	n/a
27	TCF12	chr7:86848693-86850257	ECC-1	luminal epithelium:	n/a	n/a
28	E2F6	chr7:86849326-86850213	H1-hESC	embryonic stem cell:	n/a	chr7:86849668-86849675 chr7:86849667-86849675 chr7:86849402-86849414 chr7:86849662-86849671 chr7:86849666-86849676 chr7:86849665-86849676 chr7:86849667-86849675
29	POLR2A	chr7:86845415-86850229	GM12892	blood:	n/a	n/a
30	GTF2F1	chr7:86849796-86850252	Hela-S3	cervix:	n/a	n/a
31	WRNIP1	chr7:86850078-86850475	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:86848163-86850215	HepG2	liver:	n/a	n/a
33	MYC	chr7:86848662-86850237	MCF10A-Er-Src	breast:	n/a	chr7:86849135-86849144 chr7:86850066-86850076 chr7:86849873-86849883 chr7:86849400-86849410
34	HA-E2F1	chr7:86848233-86850702	MCF-7	breast:	n/a	chr7:86849668-86849675 chr7:86849667-86849675 chr7:86849402-86849414 chr7:86849662-86849671 chr7:86849666-86849676 chr7:86849665-86849676 chr7:86848579-86848588 chr7:86849667-86849675
35	POLR2A	chr7:86845510-86850220	GM12892	blood:	n/a	n/a
36	MAX	chr7:86848495-86850709	MCF-7	breast:	n/a	chr7:86849135-86849144 chr7:86850066-86850076 chr7:86849873-86849883 chr7:86849400-86849410
37	MYC	chr7:86849845-86850252	MCF10A-Er-Src	breast:	n/a	chr7:86850066-86850076 chr7:86849873-86849883
38	POLR2A	chr7:86848791-86850210	U87	brain:	n/a	n/a
39	SMC3	chr7:86849756-86850459	Hela-S3	cervix:	n/a	n/a
40	MAFK	chr7:86849801-86850618	Hela-S3	cervix:	n/a	chr7:86850321-86850337 chr7:86850318-86850334 chr7:86850322-86850336 chr7:86850319-86850339 chr7:86850318-86850333
41	MAFF	chr7:86849963-86850960	K562	blood:	n/a	chr7:86850322-86850336 chr7:86850316-86850334
42	MAX	chr7:86849661-86850564	HepG2	liver:	n/a	chr7:86850066-86850076 chr7:86849873-86849883
43	PML	chr7:86845395-86850265	GM12878	blood:	n/a	n/a
44	MAX	chr7:86849743-86850478	SK-N-SH	brain:	n/a	chr7:86850066-86850076 chr7:86849873-86849883
45	CEBPB	chr7:86850144-86850211	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZKSCAN1	chr7:86849545-86850334	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr7:86848191-86850336	GM12878	blood:	n/a	chr7:86849182-86849192 chr7:86849216-86849226 chr7:86849405-86849415
48	SMARCB1	chr7:86848420-86850498	Hela-S3	cervix:	n/a	n/a
49	MAX	chr7:86848827-86850465	ECC-1	luminal epithelium:	n/a	chr7:86849135-86849144 chr7:86850066-86850076 chr7:86849873-86849883 chr7:86849400-86849410
50	TCF7L2	chr7:86848513-86850372	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:86780325..86782925-chr7:86850023..86852985,2	K562	blood:
2	chr7:86780355..86788679-chr7:86845137..86851399,15	MCF-7	breast:
3	chr7:86778653..86785496-chr7:86845746..86851349,11	MCF-7	breast:
4	chr7:86781659..86782434-chr7:86849575..86850297,2	Hela-S3	cervix:
5	chr7:86828530..86830093-chr7:86847651..86850923,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200397	TF binding region
TMEM243	TF binding region
ENSG00000135185	Chromatin interaction
ENSG00000135164	Chromatin interaction
ENSG00000224046	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10085726	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10228392	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.95[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10231010	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10238917	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10244350	0.90[CEU][hapmap];0.81[ASN][1000 genomes]
rs1024457	1.00[CEU][hapmap];0.91[YRI][hapmap];0.87[EUR][1000 genomes]
rs10257953	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10273853	0.90[CEU][hapmap];0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs10952896	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1859124	0.80[CEU][hapmap]
rs2057984	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2074757	1.00[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2108271	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2108272	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2190424	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2286268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2373387	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2373388	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs3747807	1.00[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3789251	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3789252	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4140847	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4400318	0.95[EUR][1000 genomes]
rs4639442	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4727146	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4728686	1.00[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4728689	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4728690	0.94[AMR][1000 genomes]
rs6465093	1.00[CEU][hapmap];0.95[YRI][hapmap];0.87[EUR][1000 genomes]
rs6465101	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6465103	0.81[ASN][1000 genomes]
rs6952384	0.95[EUR][1000 genomes]
rs6959152	0.81[CEU][hapmap]
rs6966613	0.89[AMR][1000 genomes]
rs6968640	0.91[CEU][hapmap];0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs6975202	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6980450	0.81[ASN][1000 genomes]
rs757961	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs765968	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7780698	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7810647	1.00[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1016761	chr7:86758544-86914152	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv888676	chr7:86781423-86858824	Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv1026193	chr7:86790391-86856448	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv539003	chr7:86790391-86856448	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
10	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86846000-86850400	Active TSS	Rectal Smooth Muscle	rectum
2	chr7:86847400-86850600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:86847400-86850600	Active TSS	Brain Anterior Caudate	brain
4	chr7:86847400-86850800	Active TSS	NHLF	lung
5	chr7:86847600-86850400	Active TSS	Esophagus	oesophagus
6	chr7:86847600-86850600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:86847600-86850600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr7:86847600-86850800	Active TSS	Aorta	Aorta
9	chr7:86847800-86850600	Active TSS	Brain Cingulate Gyrus	brain
10	chr7:86847800-86850800	Active TSS	Ovary	ovary
11	chr7:86848000-86850400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:86848000-86850400	Active TSS	Right Ventricle	heart
13	chr7:86848200-86850400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:86848200-86850400	Active TSS	Fetal Kidney	kidney
15	chr7:86848200-86850400	Active TSS	Gastric	stomach
16	chr7:86848200-86850400	Active TSS	Psoas Muscle	Psoas
17	chr7:86848400-86850400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:86849200-86850600	Flanking Active TSS	Liver	Liver
19	chr7:86849400-86850400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
20	chr7:86849400-86850600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr7:86849600-86850600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
22	chr7:86849800-86850400	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr7:86849800-86850400	Active TSS	Colonic Mucosa	Colon
24	chr7:86849800-86850400	Flanking Bivalent TSS/Enh	Dnd41	blood
25	chr7:86849800-86850600	Flanking Active TSS	Fetal Muscle Trunk	muscle
26	chr7:86850000-86850400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr7:86850000-86850400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
28	chr7:86850000-86850400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:86850000-86850400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:86850000-86850400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:86850000-86850400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr7:86850000-86850400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
33	chr7:86850000-86850400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:86850000-86850400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:86850000-86850400	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr7:86850000-86850400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr7:86850000-86850400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
38	chr7:86850000-86850400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:86850000-86850400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:86850000-86850400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr7:86850000-86850400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr7:86850000-86850400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:86850000-86850400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr7:86850000-86850400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:86850000-86850400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:86850000-86850400	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr7:86850000-86850400	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr7:86850000-86850400	Flanking Active TSS	Placenta	Placenta
49	chr7:86850000-86850400	Enhancers	Small Intestine	intestine
50	chr7:86850000-86850400	Flanking Active TSS	Stomach Mucosa	stomach

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