Variant report

Variant	rs772697
Chromosome Location	chr12:56326200-56326201
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:61)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr12:56326104-56326643	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:56325666-56326294	ProgFib	skin:	n/a	n/a
3	MTA3	chr12:56325856-56326749	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:56325714-56326290	GM12878	blood:	n/a	n/a
5	CREB1	chr12:56326139-56326728	GM12878	blood:	n/a	n/a
6	RUNX3	chr12:56325947-56326670	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:56325367-56326819	IMR90	lung:	n/a	n/a
8	MAX	chr12:56325863-56326628	NB4	blood:	n/a	n/a
9	MAX	chr12:56324555-56326232	ECC-1	luminal epithelium:	n/a	n/a
10	ZBTB7A	chr12:56324564-56326489	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr12:56325453-56326234	SK-N-SH	brain:	n/a	n/a
12	MAZ	chr12:56324459-56326683	IMR90	lung:	n/a	n/a
13	ZBTB7A	chr12:56324803-56326506	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr12:56326077-56326562	HCT-116	colon:	n/a	n/a
15	POLR2A	chr12:56326129-56327614	HUVEC	blood vessel:	n/a	n/a
16	BHLHE40	chr12:56326195-56326604	GM12878	blood:	n/a	n/a
17	CHD1	chr12:56326089-56326571	GM12878	blood:	n/a	n/a
18	STAT5A	chr12:56326042-56326884	GM12878	blood:	n/a	chr12:56326270-56326282 chr12:56326828-56326839 chr12:56326641-56326653
19	RUNX3	chr12:56325988-56326650	GM12878	blood:	n/a	n/a
20	NFATC1	chr12:56326196-56326682	GM12878	blood:	n/a	n/a
21	PML	chr12:56326098-56326789	GM12878	blood:	n/a	n/a
22	ELF1	chr12:56325566-56326277	GM12878	blood:	n/a	n/a
23	TAF1	chr12:56325221-56326401	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr12:56325244-56326569	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr12:56324469-56326750	GM12878	blood:	n/a	n/a
26	MTA3	chr12:56326005-56326678	GM12878	blood:	n/a	n/a
27	SIN3A	chr12:56325424-56326504	H1-hESC	embryonic stem cell:	n/a	chr12:56325858-56325867
28	BCLAF1	chr12:56326187-56326738	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:56326165-56326215	SK-N-SH_RA	brain:	n/a
2	chr12:56326165-56326215	HUVEC	blood vessel:	n/a
3	chr12:56326165-56326215	BE2_C	brain:	n/a
4	chr12:56326165-56326215	LNCaP	prostate:	n/a
5	chr12:56326165-56326215	IMR90	lung:	fetal
6	chr12:56326165-56326215	H1-hESC	embryonic stem cell:	embryo
7	chr12:56326165-56326215	CMK	blood:	n/a
8	chr12:56326165-56326215	PANC-1	pancreas:	n/a
9	chr12:56326165-56326215	AG04449	skin:	fetal
10	chr12:56326165-56326215	AoSMC	blood vessel:	n/a
11	chr12:56326165-56326215	Hepatocyte	liver:	n/a
12	chr12:56326165-56326215	U87	brain:	n/a
13	chr12:56326165-56326215	T-47D	breast:	n/a
14	chr12:56326165-56326215	NHDF-neo	bronchial:	n/a
15	chr12:56326165-56326215	Jurkat	blood:	n/a
16	chr12:56326165-56326215	K562	blood:	n/a
17	chr12:56326165-56326215	HL-60	blood:	n/a
18	chr12:56326165-56326215	Caco-2	colon:	n/a
19	chr12:56326165-56326215	NT2-D1	testis:	n/a
20	chr12:56326165-56326215	MCF-7	breast:	n/a
21	chr12:56326165-56326215	HRPEpiC	eye:	n/a
22	chr12:56326165-56326215	NHBE	bronchial:	n/a
23	chr12:56326165-56326215	HepG2	liver:	n/a
24	chr12:56326165-56326215	ECC-1	luminal epithelium:	n/a
25	chr12:56326165-56326215	HCM	heart:	n/a
26	chr12:56326165-56326215	HCPEpiC	choroid plexus:	n/a
27	chr12:56326165-56326215	GM06990	blood:	n/a
28	chr12:56326165-56326215	GM12878	blood:	n/a
29	chr12:56326165-56326215	SKMC	muscle:	n/a
30	chr12:56326165-56326215	SAEC	small airway:	n/a
31	chr12:56326165-56326215	HPAEpiC	pulmonary alveolar:	n/a
32	chr12:56326165-56326215	BJ	skin:	n/a
33	chr12:56326165-56326215	GM19239	blood:	n/a
34	chr12:56326165-56326215	MCF10A-Er-Src	breast:	n/a
35	chr12:56326165-56326215	HIPEpiC	eye:	n/a
36	chr12:56326165-56326215	GM12892	blood:	n/a
37	chr12:56326165-56326215	SK-N-MC	brain:	n/a
38	chr12:56326165-56326215	HRE	kidney:	n/a
39	chr12:56326165-56326215	PFSK-1	brain:	n/a
40	chr12:56326165-56326215	HEEpiC	esophagus:	n/a
41	chr12:56326165-56326215	A549	lung:	n/a
42	chr12:56326165-56326215	AG09319	gingival:	n/a
43	chr12:56326165-56326215	HNPCEpiC	eye:	n/a
44	chr12:56326165-56326215	HAEpiC	amniotic membrane:	n/a
45	chr12:56326165-56326215	ovcar-3	ovarian:	n/a
46	chr12:56326165-56326215	NB4	blood:	n/a
47	chr12:56326165-56326215	NH-A	brain:	n/a
48	chr12:56326165-56326215	HCF	heart:	n/a
49	chr12:56326165-56326215	HEK293	kidney:	embryo
50	chr12:56326165-56326215	SK-N-SH	brain:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56324272..56327111-chr12:56385454..56388039,2	MCF-7	breast:
2	chr12:56324645..56327679-chr12:56350066..56352097,3	MCF-7	breast:
3	chr12:56208117..56217611-chr12:56318345..56328982,45	MCF-7	breast:
4	chr12:56208546..56216914-chr12:56318326..56328671,24	MCF-7	breast:
5	chr12:56318132..56330507-chr12:56363672..56369798,22	MCF-7	breast:
6	chr12:56319178..56327497-chr12:56356755..56363470,19	MCF-7	breast:
7	chr12:56210239..56212423-chr12:56323809..56326781,2	K562	blood:
8	chr12:56210581..56212423-chr12:56323860..56326781,2	K562	blood:
9	chr12:56325013..56327160-chr12:56358376..56361876,4	MCF-7	breast:
10	chr12:56325939..56329017-chr12:56389529..56391723,3	K562	blood:
11	chr12:56217992..56226798-chr12:56311494..56331042,68	MCF-7	breast:
12	chr12:56222395..56225334-chr12:56325812..56327785,2	K562	blood:
13	chr12:56217492..56232243-chr12:56318854..56330686,48	MCF-7	breast:
14	chr12:56318492..56327488-chr12:56364288..56371675,16	MCF-7	breast:
15	chr12:56323623..56326295-chr12:56400061..56402642,2	MCF-7	breast:
16	chr12:56136172..56138342-chr12:56323730..56326497,2	K562	blood:
17	chr12:56324205..56326557-chr12:56345511..56347767,3	MCF-7	breast:
18	chr12:56320184..56328034-chr12:56431937..56442233,20	MCF-7	breast:
19	chr12:56217816..56225905-chr12:56319649..56327312,13	K562	blood:
20	chr12:56320862..56327055-chr12:56370927..56377943,9	MCF-7	breast:
21	chr12:56324994..56327276-chr12:56346740..56350037,3	MCF-7	breast:
22	chr12:56319350..56329795-chr12:56348492..56353182,19	MCF-7	breast:

No data

Variant related genes	Relation type
WIBG	TF binding region
DGKA	TF binding region
WIBG	CpG island
DGKA	CpG island
ENSG00000257449	Chromatin interaction
ENSG00000123411	Chromatin interaction
ENSG00000255990	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000139531	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000258554	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000237493	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1066130	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1068188	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1068189	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10876862	0.82[YRI][hapmap]
rs1088050	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1091527	1.00[EUR][1000 genomes]
rs11829187	1.00[ASN][1000 genomes]
rs11831133	1.00[ASN][1000 genomes]
rs11833164	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834873	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835018	1.00[EUR][1000 genomes]
rs11835310	1.00[EUR][1000 genomes]
rs11838363	1.00[ASN][1000 genomes]
rs1626158	1.00[EUR][1000 genomes]
rs1681071	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681079	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681080	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681088	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689508	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689509	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689517	1.00[EUR][1000 genomes]
rs1689518	1.00[EUR][1000 genomes]
rs1701701	1.00[EUR][1000 genomes]
rs1701702	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1702872	1.00[EUR][1000 genomes]
rs2035948	1.00[EUR][1000 genomes]
rs2046293	1.00[ASN][1000 genomes]
rs2625137	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2625146	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2640566	1.00[EUR][1000 genomes]
rs2640568	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658478	1.00[EUR][1000 genomes]
rs2661728	1.00[EUR][1000 genomes]
rs2661729	1.00[EUR][1000 genomes]
rs2934152	1.00[EUR][1000 genomes]
rs34323718	1.00[EUR][1000 genomes]
rs4417324	1.00[EUR][1000 genomes]
rs56696262	1.00[EUR][1000 genomes]
rs57237559	1.00[EUR][1000 genomes]
rs57785224	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57990974	1.00[EUR][1000 genomes]
rs59794023	1.00[EUR][1000 genomes]
rs61733171	1.00[EUR][1000 genomes]
rs705697	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705710	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705712	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705713	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705714	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705716	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705717	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7298109	1.00[EUR][1000 genomes]
rs7300292	1.00[EUR][1000 genomes]
rs7302270	0.90[YRI][hapmap]
rs7304690	1.00[EUR][1000 genomes]
rs7309327	1.00[EUR][1000 genomes]
rs7310292	1.00[EUR][1000 genomes]
rs73336393	1.00[ASN][1000 genomes]
rs73336399	1.00[ASN][1000 genomes]
rs73336402	1.00[ASN][1000 genomes]
rs73338377	1.00[EUR][1000 genomes]
rs73338385	1.00[EUR][1000 genomes]
rs772459	1.00[EUR][1000 genomes]
rs772463	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772464	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772467	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772470	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs772474	1.00[EUR][1000 genomes]
rs772698	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772699	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs772701	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772705	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954155	1.00[EUR][1000 genomes]
rs7957187	1.00[EUR][1000 genomes]
rs7958958	1.00[EUR][1000 genomes]
rs7975037	1.00[EUR][1000 genomes]
rs7980782	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56319800-56326600	Active TSS	Thymus	Thymus
2	chr12:56321200-56327600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:56321600-56327000	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr12:56321800-56327200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr12:56324000-56326600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr12:56324000-56326600	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr12:56324000-56327000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:56324200-56326400	Active TSS	Primary T cells from cord blood	blood
9	chr12:56324200-56327400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:56324400-56327000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:56324600-56326400	Active TSS	Fetal Thymus	thymus
12	chr12:56324800-56326400	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr12:56325000-56326200	Active TSS	Primary T cells fromperipheralblood	blood
14	chr12:56325000-56326400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:56325000-56326600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr12:56325000-56327400	Active TSS	Esophagus	oesophagus
17	chr12:56325000-56330200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
18	chr12:56325200-56326200	Active TSS	Fetal Kidney	kidney
19	chr12:56325200-56326400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:56325200-56326400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr12:56325200-56326400	Active TSS	NHEK	skin
22	chr12:56325200-56326600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:56325200-56326600	Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr12:56325200-56326800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr12:56325200-56326800	Active TSS	Aorta	Aorta
26	chr12:56325200-56326800	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr12:56325200-56327000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:56325400-56326200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr12:56325400-56326200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:56325400-56326200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr12:56325400-56326200	Active TSS	Brain Anterior Caudate	brain
32	chr12:56325400-56326200	Active TSS	Brain Hippocampus Middle	brain
33	chr12:56325400-56326200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:56325400-56326200	Active TSS	Fetal Lung	lung
35	chr12:56325400-56326200	Active TSS	Psoas Muscle	Psoas
36	chr12:56325400-56326200	Active TSS	Right Atrium	heart
37	chr12:56325400-56326200	Bivalent/Poised TSS	HepG2	liver
38	chr12:56325400-56326200	Active TSS	HSMM	muscle
39	chr12:56325400-56326200	Active TSS	HSMMtube	muscle
40	chr12:56325400-56326400	Active TSS	H9 Cell Line	embryonic stem cell
41	chr12:56325400-56326400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:56325400-56326400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:56325400-56326400	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr12:56325400-56326400	Active TSS	Duodenum Mucosa	Duodenum
45	chr12:56325400-56326400	Active TSS	Gastric	stomach
46	chr12:56325400-56326400	Active TSS	Left Ventricle	heart
47	chr12:56325400-56326400	Active TSS	Ovary	ovary
48	chr12:56325400-56326400	Active TSS	Rectal Smooth Muscle	rectum
49	chr12:56325400-56326400	Active TSS	Spleen	Spleen
50	chr12:56325400-56326400	Active TSS	GM12878-XiMat	blood

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