Variant report

Variant	rs772701
Chromosome Location	chr12:56325006-56325007
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56324707-56325124	MCF-7	breast:	n/a	n/a
2	CTCF	chr12:56324900-56325050	HPF	lung:	n/a	n/a
3	POLR2A	chr12:56324592-56325967	Raji	blood:	n/a	n/a
4	POLR2A	chr12:56324862-56325220	GM12878	blood:	n/a	n/a
5	RUNX3	chr12:56324487-56325353	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:56324771-56325025	K562	blood:	n/a	n/a
7	CTCF	chr12:56324880-56325030	GM12871	blood:	n/a	n/a
8	PML	chr12:56324487-56325664	GM12878	blood:	n/a	n/a
9	CEBPB	chr12:56324446-56325122	GM12878	blood:	n/a	n/a
10	CTCF	chr12:56324980-56325130	HAc	cerebellar:	n/a	chr12:56325122-56325130
11	CTCF	chr12:56324267-56325940	SK-N-SH	brain:	n/a	chr12:56324677-56324685 chr12:56325122-56325130 chr12:56324672-56324690 chr12:56324674-56324695
12	EBF1	chr12:56324609-56325050	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:56324869-56325020	A549	lung:	n/a	n/a
14	CTCF	chr12:56325000-56325150	GM12864	blood:	n/a	chr12:56325122-56325130
15	POLR2A	chr12:56324680-56325458	GM12892	blood:	n/a	n/a
16	POLR2A	chr12:56324849-56325165	GM12878	blood:	n/a	n/a
17	MAX	chr12:56324555-56326232	ECC-1	luminal epithelium:	n/a	n/a
18	RAD21	chr12:56324368-56326036	SK-N-SH	brain:	n/a	chr12:56324675-56324682 chr12:56325104-56325116 chr12:56324673-56324692 chr12:56324677-56324686
19	ZBTB7A	chr12:56324564-56326489	ECC-1	luminal epithelium:	n/a	n/a
20	STAT5A	chr12:56324979-56325449	GM12878	blood:	n/a	n/a
21	CTCF	chr12:56324860-56325150	AG09309	skin:	n/a	chr12:56325122-56325130
22	CTCF	chr12:56324940-56325090	AG04449	skin:	n/a	n/a
23	MAZ	chr12:56324459-56326683	IMR90	lung:	n/a	n/a
24	POLR2A	chr12:56324475-56325189	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr12:56324870-56325140	GM12878	blood:	n/a	n/a
26	ZBTB7A	chr12:56324803-56326506	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr12:56324753-56325186	GM12878	blood:	n/a	n/a
28	MAX	chr12:56324438-56326096	A549	lung:	n/a	n/a
29	POLR2A	chr12:56324453-56326067	HUVEC	blood vessel:	n/a	n/a
30	FOSL2	chr12:56324349-56325036	A549	lung:	n/a	n/a
31	POLR2A	chr12:56324885-56325492	Hela-S3	cervix:	n/a	n/a
32	KAT2A	chr12:56324931-56325083	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:56324921-56325035	ProgFib	skin:	n/a	n/a
34	RCOR1	chr12:56324541-56325661	K562	blood:	n/a	n/a
35	CTCF	chr12:56324980-56325130	NHDF-neo	bronchial:	n/a	chr12:56325122-56325130
36	TAF1	chr12:56324762-56325062	GM12878	blood:	n/a	n/a
37	MTA3	chr12:56324328-56325797	GM12878	blood:	n/a	n/a
38	CTCF	chr12:56324860-56325010	WI-38	lung:	n/a	n/a
39	FOXM1	chr12:56324428-56325298	GM12878	blood:	n/a	n/a
40	CTCF	chr12:56324940-56325090	NB4	blood:	n/a	n/a
41	ZEB1	chr12:56324839-56325259	GM12878	blood:	n/a	n/a
42	STAT5A	chr12:56324544-56325775	GM12878	blood:	n/a	chr12:56324840-56324849 chr12:56324825-56324848 chr12:56325537-56325549 chr12:56324837-56324851 chr12:56324839-56324848
43	CTCF	chr12:56324433-56325101	A549	lung:	n/a	chr12:56324677-56324685 chr12:56324672-56324690 chr12:56324674-56324695
44	EBF1	chr12:56324854-56325183	GM12878	blood:	n/a	n/a
45	POLR2A	chr12:56324418-56325482	HCT-116	colon:	n/a	n/a
46	MTA3	chr12:56324607-56325382	GM12878	blood:	n/a	n/a
47	ZNF143	chr12:56324514-56325088	GM12878	blood:	n/a	n/a
48	TCF12	chr12:56324312-56325125	A549	lung:	n/a	chr12:56324821-56324828
49	POLR2A	chr12:56324986-56325028	HUVEC	blood vessel:	n/a	n/a
50	MAZ	chr12:56324529-56325122	K562	blood:	n/a	n/a

No data

(count:23 , 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	chr12:53341241..53344226-chr12:56323655..56325442,2	MCF-7	breast:
5	chr12:56208546..56216914-chr12:56318326..56328671,24	MCF-7	breast:
6	chr12:56318132..56330507-chr12:56363672..56369798,22	MCF-7	breast:
7	chr12:56319178..56327497-chr12:56356755..56363470,19	MCF-7	breast:
8	chr12:56210239..56212423-chr12:56323809..56326781,2	K562	blood:
9	chr12:56210581..56212423-chr12:56323860..56326781,2	K562	blood:
10	chr12:56217992..56226798-chr12:56311494..56331042,68	MCF-7	breast:
11	chr12:56217492..56232243-chr12:56318854..56330686,48	MCF-7	breast:
12	chr12:56323635..56325370-chr12:56366168..56367925,2	K562	blood:
13	chr12:56318492..56327488-chr12:56364288..56371675,16	MCF-7	breast:
14	chr12:56323623..56326295-chr12:56400061..56402642,2	MCF-7	breast:
15	chr12:56136172..56138342-chr12:56323730..56326497,2	K562	blood:
16	chr12:56324205..56326557-chr12:56345511..56347767,3	MCF-7	breast:
17	chr12:56324707..56325597-chr12:56434977..56435647,2	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	chr12:56324513..56325140-chr12:56333753..56334766,3	MCF-7	breast:
23	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
ENSG00000182796	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000255990	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000111057	Chromatin interaction
ENSG00000237493	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000258554	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000170421	Chromatin interaction
ENSG00000123411	Chromatin interaction
ENSG00000257449	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1066130	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1068188	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1068189	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1088050	1.00[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681079	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681080	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681088	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689508	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689509	0.97[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	1.00[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2625146	1.00[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	0.97[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	1.00[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705713	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705716	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705717	1.00[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]
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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772464	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772467	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772470	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs772474	1.00[EUR][1000 genomes]
rs772697	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772698	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772699	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs772705	1.00[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:126 , 50 per page) page: 1 2 3

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	chr12:56321600-56325200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr12:56321600-56327000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr12:56321800-56327200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr12:56322400-56325200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:56322400-56325200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr12:56322400-56325200	Flanking Active TSS	Dnd41	blood
9	chr12:56322400-56325200	Flanking Active TSS	NHEK	skin
10	chr12:56323800-56325200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:56323800-56325200	Enhancers	Fetal Kidney	kidney
12	chr12:56324000-56326600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr12:56324000-56326600	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr12:56324000-56327000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:56324200-56326400	Active TSS	Primary T cells from cord blood	blood
16	chr12:56324200-56327400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:56324400-56325200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:56324400-56325200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:56324400-56325200	Enhancers	Gastric	stomach
20	chr12:56324400-56325400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr12:56324400-56325400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:56324400-56325400	Flanking Active TSS	GM12878-XiMat	blood
23	chr12:56324400-56325400	Flanking Active TSS	NHDF-Ad	bronchial
24	chr12:56324400-56325600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:56324400-56325600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:56324400-56325600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:56324400-56325600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr12:56324400-56325600	Flanking Active TSS	HMEC	breast
29	chr12:56324400-56326000	Enhancers	Fetal Heart	heart
30	chr12:56324400-56327000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:56324600-56325200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:56324600-56325200	Enhancers	Brain Germinal Matrix	brain
33	chr12:56324600-56325200	Enhancers	HSMMtube	muscle
34	chr12:56324600-56325600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:56324600-56325600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr12:56324600-56325600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr12:56324600-56325600	Flanking Active TSS	Right Ventricle	heart
38	chr12:56324600-56325600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr12:56324600-56325800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:56324600-56326400	Active TSS	Fetal Thymus	thymus
41	chr12:56324800-56325200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:56324800-56325200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr12:56324800-56325200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:56324800-56325200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:56324800-56325200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr12:56324800-56325200	Enhancers	Fetal Lung	lung
47	chr12:56324800-56325200	Flanking Active TSS	HepG2	liver
48	chr12:56324800-56325400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
49	chr12:56324800-56325400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:56324800-56325400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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