Variant report

Variant	rs28711736
Chromosome Location	chr7:6488177-6488178
allele	C/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	MYBL2	chr7:6487140-6488536	HepG2	liver:	n/a	n/a
2	EP300	chr7:6487528-6488334	K562	blood:	n/a	chr7:6487760-6487774 chr7:6487808-6487817
3	CEBPB	chr7:6488056-6488446	ECC-1	luminal epithelium:	n/a	chr7:6488194-6488205
4	TCF12	chr7:6488022-6488326	HepG2	liver:	n/a	n/a
5	CEBPB	chr7:6488078-6488337	ECC-1	luminal epithelium:	n/a	chr7:6488194-6488205
6	POLR2A	chr7:6487192-6488299	GM12892	blood:	n/a	n/a
7	NFIC	chr7:6487750-6488471	HepG2	liver:	n/a	n/a
8	MYC	chr7:6486645-6488349	K562	blood:	n/a	chr7:6487329-6487339
9	CCNT2	chr7:6488085-6488244	K562	blood:	n/a	n/a
10	CEBPB	chr7:6488064-6488315	HepG2	liver:	n/a	chr7:6488194-6488205
11	SIN3AK20	chr7:6486355-6488352	MCF-7	breast:	n/a	n/a
12	USF1	chr7:6488072-6488350	A549	lung:	n/a	n/a
13	POLR2A	chr7:6487232-6488188	HUVEC	blood vessel:	n/a	n/a
14	HNF4A	chr7:6487975-6488433	HepG2	liver:	n/a	n/a
15	TRIM28	chr7:6487655-6488388	K562	blood:	n/a	n/a
16	POLR2A	chr7:6486471-6488332	HL-60	blood:	n/a	n/a
17	EP300	chr7:6487349-6488526	A549	lung:	n/a	chr7:6487760-6487774 chr7:6487808-6487817
18	JUND	chr7:6488047-6488301	HepG2	liver:	n/a	chr7:6488204-6488215
19	BATF	chr7:6488084-6488303	GM12878	blood:	n/a	n/a
20	TAF1	chr7:6488011-6488288	Hela-S3	cervix:	n/a	n/a
21	BCL3	chr7:6487927-6488489	A549	lung:	n/a	n/a
22	POLR2A	chr7:6486641-6488326	IMR90	lung:	n/a	n/a
23	TEAD4	chr7:6487966-6488465	ECC-1	luminal epithelium:	n/a	n/a
24	TEAD4	chr7:6488051-6488342	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:6487193-6488386	HUVEC	blood vessel:	n/a	n/a
26	MBD4	chr7:6488014-6488409	HepG2	liver:	n/a	n/a
27	E2F6	chr7:6486509-6488500	A549	lung:	n/a	chr7:6487002-6487013 chr7:6487678-6487687 chr7:6487631-6487640
28	TEAD4	chr7:6488057-6488468	A549	lung:	n/a	n/a
29	CEBPB	chr7:6487764-6488409	K562	blood:	n/a	chr7:6488194-6488205
30	POLR2A	chr7:6487258-6488432	HCT-116	colon:	n/a	n/a
31	USF1	chr7:6488137-6488374	SK-N-SH_RA	brain:	n/a	n/a
32	POLR2A	chr7:6486646-6489033	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr7:6487592-6488382	IMR90	lung:	n/a	chr7:6488194-6488205
34	TAF1	chr7:6488040-6488326	K562	blood:	n/a	n/a
35	MXI1	chr7:6486618-6488341	HepG2	liver:	n/a	n/a
36	STAT3	chr7:6488052-6488379	MCF10A-Er-Src	breast:	n/a	n/a
37	MAX	chr7:6486585-6488500	MCF-7	breast:	n/a	chr7:6487329-6487339
38	GATA3	chr7:6486534-6488577	A549	lung:	n/a	n/a
39	FOSL1	chr7:6488086-6488326	K562	blood:	n/a	chr7:6488204-6488215
40	MYBL2	chr7:6487495-6488472	HepG2	liver:	n/a	n/a
41	RXRA	chr7:6487938-6488376	HepG2	liver:	n/a	n/a
42	POLR2A	chr7:6487249-6488387	SK-N-SH	brain:	n/a	n/a
43	TCF12	chr7:6487962-6488350	A549	lung:	n/a	n/a
44	SIX5	chr7:6487459-6488547	A549	lung:	n/a	n/a
45	FOXA2	chr7:6487869-6488580	A549	lung:	n/a	n/a
46	FOXA1	chr7:6487855-6488462	HepG2	liver:	n/a	n/a
47	UBTF	chr7:6487967-6488326	K562	blood:	n/a	n/a
48	STAT3	chr7:6488078-6488417	MCF10A-Er-Src	breast:	n/a	n/a
49	MAX	chr7:6488051-6488411	K562	blood:	n/a	n/a
50	CBX3	chr7:6486488-6488335	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6485398..6489202-chr7:6520855..6525273,5	MCF-7	breast:
2	chr7:6486201..6489628-chr7:6522463..6525039,4	MCF-7	breast:

Variant related genes	Relation type
DAGLB	TF binding region
ENSG00000136240	Chromatin interaction
ENSG00000269781	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10225406	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs836512	0.85[AMR][1000 genomes]
rs836515	0.80[AMR][1000 genomes]
rs836522	0.80[AMR][1000 genomes]
rs836530	0.80[AMR][1000 genomes]
rs836533	0.80[AMR][1000 genomes]
rs836541	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv971152	chr7:6485642-6509340	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6486200-6488200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:6486200-6488400	Active TSS	H1 Cell Line	embryonic stem cell
3	chr7:6486200-6488400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr7:6486200-6488400	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr7:6486200-6488400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:6486200-6488400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:6486200-6488800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:6486200-6489200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:6486400-6488200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:6486400-6488200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:6486400-6488200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr7:6486400-6488200	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr7:6486400-6488200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:6486400-6488200	Active TSS	HMEC	breast
15	chr7:6486400-6488200	Active TSS	HSMM	muscle
16	chr7:6486400-6488200	Active TSS	NHDF-Ad	bronchial
17	chr7:6486400-6488400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:6486400-6488600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr7:6486400-6488600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:6486400-6488600	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr7:6486400-6488600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:6486400-6488800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:6486400-6488800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:6486400-6488800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr7:6486600-6488200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:6486600-6488200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:6486600-6488200	Active TSS	Fetal Intestine Large	intestine
28	chr7:6486600-6488200	Active TSS	Lung	lung
29	chr7:6486600-6488200	Active TSS	Ovary	ovary
30	chr7:6486600-6488200	Active TSS	Psoas Muscle	Psoas
31	chr7:6486600-6488200	Active TSS	NH-A	brain
32	chr7:6486600-6488200	Active TSS	NHEK	skin
33	chr7:6486600-6488200	Active TSS	NHLF	lung
34	chr7:6486600-6488200	Active TSS	Osteobl	bone
35	chr7:6486600-6488400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:6486600-6488400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:6486600-6488400	Active TSS	Fetal Kidney	kidney
38	chr7:6486600-6488400	Active TSS	HSMMtube	muscle
39	chr7:6486600-6488600	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr7:6486600-6488600	Active TSS	A549	lung
41	chr7:6486800-6488200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:6486800-6488200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:6486800-6488200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:6486800-6488200	Active TSS	Aorta	Aorta
45	chr7:6486800-6488200	Active TSS	Brain Hippocampus Middle	brain
46	chr7:6486800-6488200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr7:6486800-6488200	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr7:6486800-6488200	Active TSS	Small Intestine	intestine
49	chr7:6486800-6488400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:6486800-6488400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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