Variant report

Variant	rs9918695
Chromosome Location	chr7:63361078-63361079
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	REST	chr7:63360883-63361847	HL-60	blood:	n/a	chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361666 chr7:63361658-63361676 chr7:63361526-63361544
2	REST	chr7:63360902-63362002	MCF-7	breast:	n/a	chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361666 chr7:63361658-63361676 chr7:63361526-63361544
3	MYC	chr7:63360995-63361646	MCF-7	breast:	n/a	n/a
4	ZNF143	chr7:63360969-63361288	GM12878	blood:	n/a	chr7:63361101-63361110 chr7:63361089-63361108 chr7:63361103-63361112 chr7:63361094-63361112 chr7:63361090-63361105
5	MAZ	chr7:63360569-63361310	K562	blood:	n/a	chr7:63360698-63360707
6	CTCF	chr7:63360982-63361213	MCF-7	breast:	n/a	n/a
7	MYC	chr7:63360966-63361561	MCF-7	breast:	n/a	n/a
8	SIN3AK20	chr7:63360911-63361528	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr7:63360881-63361578	MCF-7	breast:	n/a	n/a
10	GATA2	chr7:63360365-63362284	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr7:63360811-63361325	T-47D	breast:	n/a	n/a
12	ZBTB33	chr7:63360826-63361493	SK-N-SH	brain:	n/a	chr7:63361122-63361132
13	CTCF	chr7:63360920-63361312	Spleen_OC	spleen:	n/a	n/a
14	CHD2	chr7:63360928-63361386	K562	blood:	n/a	chr7:63361120-63361130
15	REST	chr7:63360935-63361864	SK-N-SH	brain:	n/a	chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361666 chr7:63361658-63361676 chr7:63361526-63361544
16	YY1	chr7:63360866-63361397	SK-N-SH_RA	brain:	n/a	n/a
17	MXI1	chr7:63359973-63363196	SK-N-SH	brain:	n/a	chr7:63360694-63360709 chr7:63360692-63360707
18	POLR2A	chr7:63360766-63361647	MCF-7	breast:	n/a	n/a
19	REST	chr7:63360929-63361218	SK-N-SH	brain:	n/a	n/a
20	ZBTB33	chr7:63360820-63361498	SK-N-SH	brain:	n/a	chr7:63361122-63361132
21	SIN3AK20	chr7:63360464-63361551	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr7:63360996-63361502	SK-N-SH	brain:	n/a	n/a
23	TBL1XR1	chr7:63361033-63361232	K562	blood:	n/a	n/a
24	REST	chr7:63361020-63361962	PANC-1	pancreas:	n/a	chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361666 chr7:63361658-63361676 chr7:63361526-63361544
25	MAX	chr7:63361049-63361204	K562	blood:	n/a	n/a
26	FOXA1	chr7:63360866-63361273	T-47D	breast:	n/a	n/a
27	REST	chr7:63360878-63362016	MCF-7	breast:	n/a	chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361666 chr7:63361658-63361676 chr7:63361526-63361544
28	SIN3AK20	chr7:63360966-63361313	SK-N-SH	brain:	n/a	n/a
29	CTCF	chr7:63360996-63361170	MCF-7	breast:	n/a	n/a
30	CTCF	chr7:63361020-63361170	SK-N-SH_RA	brain:	n/a	n/a
31	SIX5	chr7:63360896-63361259	K562	blood:	n/a	chr7:63361103-63361112 chr7:63361152-63361161 chr7:63361101-63361110
32	CTCF	chr7:63361069-63361087	Pancreas_OC	pancreas:	n/a	n/a
33	MAX	chr7:63360926-63361102	K562	blood:	n/a	n/a
34	FOXA1	chr7:63360909-63361308	T-47D	breast:	n/a	n/a
35	CTCF	chr7:63360967-63361152	MCF-7	breast:	n/a	n/a
36	YY1	chr7:63360805-63361427	SK-N-SH_RA	brain:	n/a	n/a
37	HA-E2F1	chr7:63360815-63361492	MCF-7	breast:	n/a	n/a
38	TCF7L2	chr7:63360540-63361259	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr7:63361046-63361118	Gliobla	brain:	n/a	n/a
40	CTCF	chr7:63360994-63361135	MCF-7	breast:	n/a	n/a
41	USF1	chr7:63361046-63361267	SK-N-SH_RA	brain:	n/a	n/a
42	ZBTB33	chr7:63361051-63361321	K562	blood:	n/a	chr7:63361122-63361132
43	JUND	chr7:63360956-63361132	K562	blood:	n/a	n/a
44	ELF1	chr7:63360413-63361513	MCF-7	breast:	n/a	n/a
45	ZNF143	chr7:63360878-63361372	K562	blood:	n/a	chr7:63361101-63361110 chr7:63361089-63361108 chr7:63361103-63361112 chr7:63360910-63360929 chr7:63360915-63360933 chr7:63360957-63360975 chr7:63361094-63361112 chr7:63361090-63361105
46	SIX5	chr7:63361039-63361214	GM12878	blood:	n/a	chr7:63361103-63361112 chr7:63361152-63361161 chr7:63361101-63361110
47	REST	chr7:63360777-63361958	SK-N-SH	brain:	n/a	chr7:63361657-63361677 chr7:63360858-63360871 chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361666 chr7:63361658-63361676 chr7:63361526-63361544
48	HCFC1	chr7:63360899-63361342	K562	blood:	n/a	n/a
49	MAX	chr7:63360374-63361672	MCF-7	breast:	n/a	chr7:63360698-63360707
50	MAX	chr7:63360851-63361683	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:63360688..63363246-chr7:63384808..63387419,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF680-4	chr7:63360954-63361113	ENSG00000236299.3
2	lnc-ZNF680-4	chr7:63360954-63361113	ENSG00000236299.3

Variant related genes	Relation type
ENSG00000236299	TF binding region
ENSG00000226581	TF binding region
ENSG00000263891	TF binding region
ENSG00000227910	Chromatin interaction
ENSG00000265017	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10225191	0.84[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10232230	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10245959	0.86[ASW][hapmap];0.90[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap]
rs10248795	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10251669	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10256598	0.85[MKK][hapmap]
rs10268120	0.81[AFR][1000 genomes]
rs10271537	0.85[MKK][hapmap]
rs10272760	0.86[ASW][hapmap];0.90[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10275509	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278463	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs28450603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28687829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55694993	0.95[AFR][1000 genomes]
rs9690370	0.87[ASW][hapmap];0.81[MKK][hapmap];0.88[YRI][hapmap]
rs9690526	0.88[YRI][hapmap]
rs9691123	0.88[YRI][hapmap]
rs9691720	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888255	chr7:63175168-63990100	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv888257	chr7:63226279-63464342	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv888258	chr7:63294907-63537173	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv534361	chr7:63328472-63955286	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv524380	chr7:63346886-63361078	Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv966815	chr7:63359141-63370063	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63360000-63361400	Active TSS	Duodenum Mucosa	Duodenum
2	chr7:63360000-63361800	Active TSS	Brain Substantia Nigra	brain
3	chr7:63360000-63362000	Active TSS	Primary T cells from cord blood	blood
4	chr7:63360000-63362000	Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr7:63360000-63362000	ZNF genes & repeats	Placenta	Placenta
6	chr7:63360000-63362000	Active TSS	Rectal Smooth Muscle	rectum
7	chr7:63360000-63362200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr7:63360000-63362400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:63360000-63362400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
10	chr7:63360200-63361400	Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr7:63360200-63361600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:63360200-63361600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:63360200-63361600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:63360200-63361600	Active TSS	Brain Hippocampus Middle	brain
15	chr7:63360200-63361600	ZNF genes & repeats	Fetal Thymus	thymus
16	chr7:63360200-63361600	Active TSS	Ovary	ovary
17	chr7:63360200-63361600	Active TSS	Right Atrium	heart
18	chr7:63360200-63361800	Active TSS	Primary hematopoietic stem cells	blood
19	chr7:63360200-63361800	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr7:63360200-63361800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr7:63360200-63361800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr7:63360200-63361800	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr7:63360200-63362000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr7:63360200-63362000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:63360200-63362200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr7:63360400-63361400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:63360400-63361400	ZNF genes & repeats	Colonic Mucosa	Colon
28	chr7:63360400-63361600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:63360400-63361800	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr7:63360400-63361800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:63360400-63361800	Active TSS	Aorta	Aorta
32	chr7:63360400-63361800	Active TSS	Brain Cingulate Gyrus	brain
33	chr7:63360400-63361800	Active TSS	Colon Smooth Muscle	Colon
34	chr7:63360400-63361800	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr7:63360400-63362000	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr7:63360400-63362000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr7:63360400-63362000	Active TSS	Brain Anterior Caudate	brain
38	chr7:63360400-63362000	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr7:63360400-63362000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr7:63360400-63362200	Active TSS	Brain Angular Gyrus	brain
41	chr7:63360600-63361200	Active TSS	Spleen	Spleen
42	chr7:63360600-63361400	Active TSS	Primary B cells from cord blood	blood
43	chr7:63360600-63361400	Active TSS	Primary B cells from peripheral blood	blood
44	chr7:63360600-63361400	Active TSS	Esophagus	oesophagus
45	chr7:63360600-63361400	Active TSS	Gastric	stomach
46	chr7:63360600-63361600	Bivalent/Poised TSS	Left Ventricle	heart
47	chr7:63360600-63361600	Active TSS	K562	blood
48	chr7:63360600-63361800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:63360600-63361800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:63360600-63361800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland

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