Variant report

Variant	rs2256864
Chromosome Location	chr7:150941406-150941407
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	CTCF	chr7:150941400-150941550	HFF-Myc	foreskin:	n/a	n/a
2	RAD21	chr7:150941281-150941848	HCT-116	colon:	n/a	chr7:150941591-150941603 chr7:150941563-150941582
3	SMC3	chr7:150941379-150941738	GM12878	blood:	n/a	chr7:150941567-150941581
4	TCF12	chr7:150941340-150941610	GM12878	blood:	n/a	n/a
5	RAD21	chr7:150941397-150941636	HepG2	liver:	n/a	chr7:150941591-150941603 chr7:150941563-150941582
6	CTCF	chr7:150941224-150941839	K562	blood:	n/a	chr7:150941560-150941581
7	CTCF	chr7:150941199-150941683	GM12892	blood:	n/a	chr7:150941560-150941581
8	SMC3	chr7:150941323-150941775	Hela-S3	cervix:	n/a	chr7:150941567-150941581
9	RAD21	chr7:150941212-150941706	H1-hESC	embryonic stem cell:	n/a	chr7:150941591-150941603 chr7:150941563-150941582
10	CUX1	chr7:150941360-150941558	K562	blood:	n/a	n/a
11	MTA3	chr7:150940959-150941740	GM12878	blood:	n/a	n/a
12	STAT5A	chr7:150941357-150941717	GM12878	blood:	n/a	n/a
13	CBX3	chr7:150941299-150941783	K562	blood:	n/a	n/a
14	RUNX3	chr7:150941366-150941686	GM12878	blood:	n/a	n/a
15	YY1	chr7:150941401-150941742	SK-N-SH_RA	brain:	n/a	n/a
16	RAD21	chr7:150941357-150941790	ECC-1	luminal epithelium:	n/a	chr7:150941591-150941603 chr7:150941563-150941582
17	GATA2	chr7:150941398-150942139	SH-SY5Y	brain:	n/a	n/a
18	POLR2A	chr7:150941340-150941865	SK-N-SH	brain:	n/a	n/a
19	SMC3	chr7:150940796-150943624	SK-N-SH	brain:	n/a	chr7:150941980-150941987 chr7:150941567-150941581 chr7:150941940-150941947
20	USF2	chr7:150941381-150941441	HepG2	liver:	n/a	n/a
21	CTCF	chr7:150941347-150941831	A549	lung:	n/a	chr7:150941560-150941581
22	MAZ	chr7:150941403-150941753	K562	blood:	n/a	n/a
23	FOXM1	chr7:150941241-150941809	GM12878	blood:	n/a	n/a
24	CTCF	chr7:150941350-150941747	HepG2	liver:	n/a	chr7:150941560-150941581
25	CTCF	chr7:150941380-150941662	ECC-1	luminal epithelium:	n/a	chr7:150941560-150941581
26	CTCF	chr7:150940291-150943350	SK-N-SH	brain:	n/a	chr7:150941938-150941951 chr7:150940479-150940497 chr7:150941560-150941581 chr7:150941941-150941954 chr7:150940585-150940598 chr7:150941920-150941929 chr7:150941977-150941986
27	RAD21	chr7:150941375-150941717	A549	lung:	n/a	chr7:150941591-150941603 chr7:150941563-150941582
28	POLR2A	chr7:150940719-150941426	U87	brain:	n/a	n/a
29	CTCF	chr7:150941381-150941761	A549	lung:	n/a	chr7:150941560-150941581
30	CTCF	chr7:150941231-150941697	K562	blood:	n/a	chr7:150941560-150941581
31	RAD21	chr7:150941361-150941762	H1-hESC	embryonic stem cell:	n/a	chr7:150941591-150941603 chr7:150941563-150941582
32	MAZ	chr7:150941368-150941690	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:150935782-150941408	U87	brain:	n/a	n/a
34	RAD21	chr7:150941382-150941750	IMR90	lung:	n/a	chr7:150941591-150941603 chr7:150941563-150941582
35	CTCF	chr7:150941377-150941798	IMR90	lung:	n/a	chr7:150941560-150941581
36	SMC3	chr7:150941348-150941725	K562	blood:	n/a	chr7:150941567-150941581
37	RAD21	chr7:150941386-150941740	Hela-S3	cervix:	n/a	chr7:150941591-150941603 chr7:150941563-150941582
38	CTCF	chr7:150941241-150941693	GM19240	blood:	n/a	chr7:150941560-150941581
39	CTCF	chr7:150941253-150941699	Gliobla	brain:	n/a	chr7:150941560-150941581
40	STAT1	chr7:150941364-150941526	GM12878	blood:	n/a	n/a
41	CEBPB	chr7:150941371-150941780	K562	blood:	n/a	n/a
42	POLR2A	chr7:150941077-150942207	IMR90	lung:	n/a	n/a
43	RAD21	chr7:150941253-150941777	MCF-7	breast:	n/a	chr7:150941591-150941603 chr7:150941563-150941582
44	ZNF143	chr7:150941399-150941731	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr7:150941307-150943406	A549	lung:	n/a	chr7:150941938-150941951 chr7:150941560-150941581 chr7:150941941-150941954 chr7:150941920-150941929 chr7:150941977-150941986
46	RAD21	chr7:150941356-150941739	SK-N-SH_RA	brain:	n/a	chr7:150941591-150941603 chr7:150941563-150941582
47	CTCF	chr7:150941288-150941907	HCT-116	colon:	n/a	chr7:150941560-150941581
48	CTCF	chr7:150941377-150941741	SK-N-SH_RA	brain:	n/a	chr7:150941560-150941581
49	YY1	chr7:150941313-150941691	GM12878	blood:	n/a	n/a
50	CTCF	chr7:150941302-150941845	K562	blood:	n/a	chr7:150941560-150941581

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150941389-150941439	CMK	blood:	n/a
2	chr7:150941389-150941439	HCPEpiC	choroid plexus:	n/a
3	chr7:150941389-150941439	HL-60	blood:	n/a
4	chr7:150941389-150941439	SK-N-SH_RA	brain:	n/a
5	chr7:150941389-150941439	MCF10A-Er-Src	breast:	n/a
6	chr7:150941389-150941439	ovcar-3	ovarian:	n/a
7	chr7:150941389-150941439	SK-N-SH	brain:	n/a
8	chr7:150941389-150941439	Caco-2	colon:	n/a
9	chr7:150941389-150941439	AG04450	lung:	fetal
10	chr7:150941389-150941439	HRCEpiC	kidney:	n/a
11	chr7:150941389-150941439	AG09319	gingival:	n/a
12	chr7:150941389-150941439	NHDF-neo	bronchial:	n/a
13	chr7:150941389-150941439	HUVEC	blood vessel:	n/a
14	chr7:150941389-150941439	HNPCEpiC	eye:	n/a
15	chr7:150941389-150941439	HCM	heart:	n/a
16	chr7:150941389-150941439	AG10803	skin:	n/a
17	chr7:150941389-150941439	HCT-116	colon:	n/a
18	chr7:150941389-150941439	HRE	kidney:	n/a
19	chr7:150941389-150941439	HAEpiC	amniotic membrane:	n/a
20	chr7:150941389-150941439	T-47D	breast:	n/a
21	chr7:150941389-150941439	AG09309	skin:	n/a
22	chr7:150941389-150941439	SAEC	small airway:	n/a
23	chr7:150941389-150941439	MCF-7	breast:	n/a
24	chr7:150941389-150941439	RPTEC	kidney:	n/a
25	chr7:150941389-150941439	HEEpiC	esophagus:	n/a
26	chr7:150941389-150941439	H1-hESC	embryonic stem cell:	embryo
27	chr7:150941389-150941439	Jurkat	blood:	n/a
28	chr7:150941389-150941439	BE2_C	brain:	n/a
29	chr7:150941389-150941439	PrEC	prostate:	n/a
30	chr7:150941389-150941439	HPAEpiC	pulmonary alveolar:	n/a
31	chr7:150941389-150941439	Hela-S3	cervix:	n/a
32	chr7:150941389-150941439	PFSK-1	brain:	n/a
33	chr7:150941389-150941439	BJ	skin:	n/a
34	chr7:150941389-150941439	Hepatocyte	liver:	n/a
35	chr7:150941389-150941439	GM12892	blood:	n/a
36	chr7:150941389-150941439	NT2-D1	testis:	n/a
37	chr7:150941389-150941439	PANC-1	pancreas:	n/a
38	chr7:150941389-150941439	NHBE	bronchial:	n/a
39	chr7:150941389-150941439	SKMC	muscle:	n/a
40	chr7:150941389-150941439	SK-N-MC	brain:	n/a
41	chr7:150941389-150941439	HCF	heart:	n/a
42	chr7:150941389-150941439	HMEC	breast:	n/a
43	chr7:150941389-150941439	NB4	blood:	n/a
44	chr7:150941389-150941439	AG04449	skin:	fetal
45	chr7:150941389-150941439	IMR90	lung:	fetal
46	chr7:150941389-150941439	ECC-1	luminal epithelium:	n/a
47	chr7:150941389-150941439	GM19239	blood:	n/a
48	chr7:150941389-150941439	AoSMC	blood vessel:	n/a
49	chr7:150941389-150941439	GM12878	blood:	n/a
50	chr7:150941389-150941439	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150869379..150870234-chr7:150941055..150942048,8	MCF-7	breast:
2	chr7:150888388..150889316-chr7:150941010..150942053,3	K562	blood:
3	chr7:150923495..150927436-chr7:150940006..150942925,4	MCF-7	breast:
4	chr7:150901645..150902197-chr7:150940945..150941682,2	K562	blood:
5	chr7:150869400..150870347-chr7:150941097..150942121,7	K562	blood:
6	chr7:150938571..150942838-chr7:150950941..150954111,4	MCF-7	breast:
7	chr7:150865018..150866330-chr7:150941109..150942155,6	K562	blood:
8	chr7:150820602..150821298-chr7:150941184..150941993,2	MCF-7	breast:
9	chr7:150819780..150822617-chr7:150940406..150943194,3	MCF-7	breast:
10	chr7:150941406..150944514-chr7:150945051..150947075,3	MCF-7	breast:

Variant related genes	Relation type
SMARCD3	TF binding region
SMARCD3	CpG island
ENSG00000082014	Chromatin interaction
ENSG00000033050	Chromatin interaction
ENSG00000243018	Chromatin interaction
ENSG00000133612	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1870238	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2242141	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2414	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2429248	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2446065	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2487152	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2487154	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2487155	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2608288	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2608292	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2608293	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2792434	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2792435	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2792436	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2792444	0.81[EUR][1000 genomes]
rs3800792	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3800793	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4725398	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4726009	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4726010	0.94[ASN][1000 genomes]
rs6464134	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6949587	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs758249	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs897917	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs921987	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv889488	chr7:150926775-150955765	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2256864	ABCF2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150931000-150944600	Weak transcription	Fetal Kidney	kidney
2	chr7:150931600-150944400	Weak transcription	Hela-S3	cervix
3	chr7:150932800-150942000	Weak transcription	Psoas Muscle	Psoas
4	chr7:150936400-150942200	Weak transcription	HMEC	breast
5	chr7:150936800-150941800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:150938600-150941800	Weak transcription	NH-A	brain
7	chr7:150939200-150941600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:150939200-150941600	Weak transcription	A549	lung
9	chr7:150939200-150942000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:150939200-150942000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:150939400-150941800	Enhancers	Fetal Brain Male	brain
12	chr7:150939400-150941800	Enhancers	HepG2	liver
13	chr7:150939600-150941800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:150939600-150941800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr7:150939600-150942000	Weak transcription	Aorta	Aorta
16	chr7:150939800-150941600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:150939800-150941600	Genic enhancers	Fetal Muscle Leg	muscle
18	chr7:150939800-150941600	Weak transcription	Osteobl	bone
19	chr7:150939800-150941800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr7:150940000-150941800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:150940000-150941800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:150940000-150942200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:150940000-150942200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr7:150940000-150942400	Bivalent Enhancer	Stomach Mucosa	stomach
25	chr7:150940000-150942800	Enhancers	Spleen	Spleen
26	chr7:150940200-150941600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:150940200-150941600	Enhancers	Esophagus	oesophagus
28	chr7:150940200-150941800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:150940200-150941800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr7:150940200-150941800	Enhancers	Colon Smooth Muscle	Colon
31	chr7:150940200-150942000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr7:150940200-150942000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr7:150940200-150942000	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr7:150940200-150942200	Enhancers	Brain Cingulate Gyrus	brain
35	chr7:150940200-150942200	Flanking Active TSS	Fetal Brain Female	brain
36	chr7:150940200-150942600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr7:150940200-150942600	Enhancers	Lung	lung
38	chr7:150940200-150943000	Enhancers	Adipose Nuclei	Adipose
39	chr7:150940200-150944800	Enhancers	Pancreas	Pancrea
40	chr7:150940200-150945400	Enhancers	K562	blood
41	chr7:150940400-150941600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:150940400-150941600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:150940400-150941800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:150940400-150942000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr7:150940400-150942200	Enhancers	Brain Angular Gyrus	brain
46	chr7:150940400-150942200	Bivalent Enhancer	Colonic Mucosa	Colon
47	chr7:150940400-150942400	Enhancers	Liver	Liver
48	chr7:150940400-150942600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:150940400-150944000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:150940600-150941600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum

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