Variant report

Variant	rs56265968
Chromosome Location	chr7:149417052-149417053
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	PAX5	chr7:149416978-149417443	GM12878	blood:	n/a	n/a
2	NR2F2	chr7:149415570-149417593	K562	blood:	n/a	n/a
3	POLR2A	chr7:149415992-149417486	K562	blood:	n/a	n/a
4	SETDB1	chr7:149416038-149417343	K562	blood:	n/a	n/a
5	CHD2	chr7:149416995-149418417	GM12878	blood:	n/a	n/a
6	HDAC2	chr7:149416787-149417491	K562	blood:	n/a	n/a
7	CEBPD	chr7:149416920-149417411	K562	blood:	n/a	n/a
8	ZNF263	chr7:149416112-149418030	K562	blood:	n/a	chr7:149417247-149417268 chr7:149417308-149417329
9	EBF1	chr7:149416935-149418416	GM12878	blood:	n/a	chr7:149417657-149417670 chr7:149417657-149417668 chr7:149417659-149417668 chr7:149417658-149417668
10	REST	chr7:149416970-149417384	K562	blood:	n/a	n/a
11	ZC3H11A	chr7:149415975-149417426	K562	blood:	n/a	n/a
12	ZNF263	chr7:149417005-149417717	HEK293-T-REx	kidney:	n/a	chr7:149417247-149417268 chr7:149417308-149417329
13	JUN	chr7:149416026-149417444	K562	blood:	n/a	chr7:149416366-149416379
14	POLR2A	chr7:149415881-149417807	K562	blood:	n/a	n/a
15	TBL1XR1	chr7:149416092-149417425	K562	blood:	n/a	n/a
16	MAFK	chr7:149417025-149417630	K562	blood:	n/a	n/a
17	RUNX3	chr7:149417003-149417411	GM12878	blood:	n/a	n/a
18	MYC	chr7:149416059-149417421	K562	blood:	n/a	n/a
19	TEAD4	chr7:149416966-149417449	K562	blood:	n/a	n/a
20	E2F6	chr7:149416045-149417668	K562	blood:	n/a	n/a
21	EP300	chr7:149416823-149418059	GM12878	blood:	n/a	chr7:149417886-149417902
22	EP300	chr7:149416961-149417444	K562	blood:	n/a	n/a
23	UBTF	chr7:149415933-149417579	K562	blood:	n/a	n/a
24	HMGN3	chr7:149416035-149417651	K562	blood:	n/a	n/a
25	MAX	chr7:149416072-149417448	K562	blood:	n/a	n/a
26	ZMIZ1	chr7:149416009-149417376	K562	blood:	n/a	n/a
27	RCOR1	chr7:149416032-149417512	K562	blood:	n/a	n/a
28	HCFC1	chr7:149415987-149417292	K562	blood:	n/a	n/a
29	ELF1	chr7:149417034-149417371	K562	blood:	n/a	n/a
30	CTCF	chr7:149417041-149417176	K562	blood:	n/a	n/a
31	TAL1	chr7:149415961-149417606	K562	blood:	n/a	chr7:149415996-149416004
32	RELA	chr7:149417020-149417816	GM19193	blood:	n/a	n/a
33	SMARCB1	chr7:149415999-149417725	K562	blood:	n/a	n/a
34	GTF2B	chr7:149416963-149417375	K562	blood:	n/a	n/a
35	SMARCA4	chr7:149415962-149417669	K562	blood:	n/a	n/a
36	POLR2A	chr7:149416973-149417668	K562	blood:	n/a	n/a
37	CBX3	chr7:149415539-149417509	K562	blood:	n/a	n/a
38	JUND	chr7:149415891-149417501	K562	blood:	n/a	chr7:149416325-149416336
39	TRIM28	chr7:149415760-149417459	K562	blood:	n/a	chr7:149417398-149417406
40	RELA	chr7:149417001-149417897	GM18951	blood:	n/a	n/a
41	JUN	chr7:149415850-149417585	K562	blood:	n/a	chr7:149416366-149416379
42	CUX1	chr7:149416937-149417443	K562	blood:	n/a	n/a
43	NR2F2	chr7:149416915-149417439	K562	blood:	n/a	n/a
44	MAX	chr7:149416041-149417678	K562	blood:	n/a	n/a
45	RCOR1	chr7:149416007-149417481	K562	blood:	n/a	n/a
46	TBL1XR1	chr7:149415906-149417424	K562	blood:	n/a	n/a
47	REST	chr7:149416996-149417299	K562	blood:	n/a	n/a
48	EGR1	chr7:149416991-149417450	K562	blood:	n/a	n/a
49	CEBPB	chr7:149417037-149417344	K562	blood:	n/a	n/a
50	POLR2A	chr7:149416986-149417411	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:149319991..149321797-chr7:149416838..149419034,2	MCF-7	breast:
2	chr7:149415554..149419677-chr7:149423548..149428331,6	K562	blood:

Variant related genes	Relation type
KRBA1	TF binding region
ENSG00000133624	Chromatin interaction
ENSG00000133619	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10227504	0.83[AFR][1000 genomes]
rs10231875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240931	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10256826	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10256935	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10258658	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262457	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10267965	0.83[AFR][1000 genomes]
rs10952835	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11979707	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12670882	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17171280	0.93[EUR][1000 genomes]
rs28647767	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28737284	0.83[AFR][1000 genomes]
rs55727837	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56226490	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57003278	0.85[AFR][1000 genomes]
rs60047316	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60647533	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66588543	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67491931	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67647638	0.92[EUR][1000 genomes]
rs67657627	0.92[EUR][1000 genomes]
rs68129719	0.94[EUR][1000 genomes]
rs68139633	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73479712	0.94[EUR][1000 genomes]
rs7791608	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7804205	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808442	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs867152	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs885651	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885652	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs885653	0.99[EUR][1000 genomes];0.82[ASN][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	nsv1021849	chr7:149230929-149422239	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS 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	39 gene(s)	inside rSNPs	diseases
3	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats 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	40 gene(s)	inside rSNPs	diseases
6	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv465199	chr7:149398065-149462621	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv608979	chr7:149398065-149462621	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149412800-149417400	Weak transcription	Fetal Intestine Large	intestine
2	chr7:149412800-149418000	Weak transcription	Aorta	Aorta
3	chr7:149412800-149418600	Weak transcription	Primary B cells from cord blood	blood
4	chr7:149412800-149421400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:149412800-149438800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:149413000-149417200	Weak transcription	HSMMtube	muscle
7	chr7:149413000-149417400	Weak transcription	Thymus	Thymus
8	chr7:149413000-149418000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:149413000-149418000	Weak transcription	Small Intestine	intestine
10	chr7:149413000-149418200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:149413000-149418200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr7:149413000-149424000	Weak transcription	Fetal Kidney	kidney
13	chr7:149413000-149433200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:149413200-149417800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:149413200-149417800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:149413200-149418000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:149413200-149418000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:149413200-149418400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:149413200-149421800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:149413200-149426200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:149413200-149432000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:149413200-149433600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr7:149413400-149417400	Weak transcription	Adipose Nuclei	Adipose
24	chr7:149413400-149417600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:149413400-149417800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:149413400-149417800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:149413400-149418000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:149413400-149418200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:149413400-149418200	Weak transcription	Fetal Thymus	thymus
30	chr7:149413400-149418400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:149413400-149418600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:149413400-149419200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr7:149413400-149423000	Weak transcription	Colonic Mucosa	Colon
34	chr7:149413400-149424600	Weak transcription	HUVEC	blood vessel
35	chr7:149413400-149433400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:149413600-149417400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr7:149413600-149418000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:149413800-149418000	Weak transcription	Fetal Lung	lung
39	chr7:149413800-149419800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:149414000-149417600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:149414000-149430200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr7:149414200-149417200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:149414600-149417400	Weak transcription	Stomach Mucosa	stomach
44	chr7:149414600-149418400	Enhancers	Fetal Heart	heart
45	chr7:149414800-149438800	Weak transcription	Fetal Brain Male	brain
46	chr7:149415800-149418200	Enhancers	Left Ventricle	heart
47	chr7:149415800-149421800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:149416000-149417200	Genic enhancers	Brain Inferior Temporal Lobe	brain
49	chr7:149416000-149417200	Enhancers	HMEC	breast
50	chr7:149416000-149417200	Flanking Active TSS	K562	blood

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