Variant report

Variant	rs9691852
Chromosome Location	chr7:63361567-63361568
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	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	chr7:63361201-63361842	PANC-1	pancreas:	n/a	chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361666 chr7:63361658-63361676 chr7:63361526-63361544
3	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
4	MYC	chr7:63360995-63361646	MCF-7	breast:	n/a	n/a
5	CTCF	chr7:63361560-63361710	SK-N-SH_RA	brain:	n/a	chr7:63361591-63361604
6	POLR2A	chr7:63360881-63361578	MCF-7	breast:	n/a	n/a
7	GATA2	chr7:63360365-63362284	SH-SY5Y	brain:	n/a	n/a
8	TEAD4	chr7:63361390-63361918	A549	lung:	n/a	n/a
9	REST	chr7:63361438-63361878	PANC-1	pancreas:	n/a	chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361666 chr7:63361658-63361676 chr7:63361526-63361544
10	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
11	MXI1	chr7:63359973-63363196	SK-N-SH	brain:	n/a	chr7:63360694-63360709 chr7:63360692-63360707
12	POLR2A	chr7:63360766-63361647	MCF-7	breast:	n/a	n/a
13	REST	chr7:63361299-63361870	PANC-1	pancreas:	n/a	chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361666 chr7:63361658-63361676 chr7:63361526-63361544
14	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
15	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
16	CTCF	chr7:63361544-63361660	MCF-7	breast:	n/a	chr7:63361591-63361604
17	CTCF	chr7:63361530-63361670	MCF-7	breast:	n/a	chr7:63361591-63361604
18	REST	chr7:63361475-63361837	SK-N-SH	brain:	n/a	chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361666 chr7:63361658-63361676 chr7:63361526-63361544
19	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
20	MAX	chr7:63360374-63361672	MCF-7	breast:	n/a	chr7:63360698-63360707
21	MAX	chr7:63360851-63361683	SK-N-SH	brain:	n/a	n/a
22	REST	chr7:63360987-63361818	PANC-1	pancreas:	n/a	chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361677 chr7:63361657-63361666 chr7:63361658-63361676 chr7:63361526-63361544

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

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

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10225389	0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs10228063	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10230036	0.85[CEU][hapmap]
rs10237437	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239744	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10263768	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10267610	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10276565	0.84[AFR][1000 genomes]
rs10280778	0.82[AFR][1000 genomes]
rs13437751	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13437753	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1877650	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2056007	0.83[AFR][1000 genomes]
rs2056008	0.84[AFR][1000 genomes]
rs2137708	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28406041	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2901969	0.84[AFR][1000 genomes]
rs4717156	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4717934	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4717937	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4717939	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55680273	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55784883	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6962010	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs73123081	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73123084	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73123099	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7784101	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7807593	0.82[AFR][1000 genomes]
rs9986918	0.89[YRI][hapmap]

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	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	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	chr7:63360000-63361800	Active TSS	Brain Substantia Nigra	brain
2	chr7:63360000-63362000	Active TSS	Primary T cells from cord blood	blood
3	chr7:63360000-63362000	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr7:63360000-63362000	ZNF genes & repeats	Placenta	Placenta
5	chr7:63360000-63362000	Active TSS	Rectal Smooth Muscle	rectum
6	chr7:63360000-63362200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr7:63360000-63362400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:63360000-63362400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
9	chr7:63360200-63361600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:63360200-63361600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:63360200-63361600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:63360200-63361600	Active TSS	Brain Hippocampus Middle	brain
13	chr7:63360200-63361600	ZNF genes & repeats	Fetal Thymus	thymus
14	chr7:63360200-63361600	Active TSS	Ovary	ovary
15	chr7:63360200-63361600	Active TSS	Right Atrium	heart
16	chr7:63360200-63361800	Active TSS	Primary hematopoietic stem cells	blood
17	chr7:63360200-63361800	Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr7:63360200-63361800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr7:63360200-63361800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr7:63360200-63361800	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr7:63360200-63362000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr7:63360200-63362000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:63360200-63362200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr7:63360400-63361600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:63360400-63361800	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr7:63360400-63361800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:63360400-63361800	Active TSS	Aorta	Aorta
28	chr7:63360400-63361800	Active TSS	Brain Cingulate Gyrus	brain
29	chr7:63360400-63361800	Active TSS	Colon Smooth Muscle	Colon
30	chr7:63360400-63361800	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr7:63360400-63362000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr7:63360400-63362000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr7:63360400-63362000	Active TSS	Brain Anterior Caudate	brain
34	chr7:63360400-63362000	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr7:63360400-63362000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr7:63360400-63362200	Active TSS	Brain Angular Gyrus	brain
37	chr7:63360600-63361600	Bivalent/Poised TSS	Left Ventricle	heart
38	chr7:63360600-63361600	Active TSS	K562	blood
39	chr7:63360600-63361800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:63360600-63361800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:63360600-63361800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr7:63360600-63361800	Active TSS	Psoas Muscle	Psoas
43	chr7:63360600-63362000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:63360600-63362000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr7:63360600-63362400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:63360800-63361600	Active TSS	Lung	lung
47	chr7:63360800-63365400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
48	chr7:63361000-63361600	Active TSS	Primary T cells fromperipheralblood	blood
49	chr7:63361000-63361800	Active TSS	Dnd41	blood
50	chr7:63361200-63361600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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