Variant report

Variant	rs1701702
Chromosome Location	chr12:56325211-56325212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56324592-56325967	Raji	blood:	n/a	n/a
2	POLR2A	chr12:56324862-56325220	GM12878	blood:	n/a	n/a
3	RUNX3	chr12:56324487-56325353	GM12878	blood:	n/a	n/a
4	MYC	chr12:56325132-56325381	MCF10A-Er-Src	breast:	n/a	n/a
5	PML	chr12:56324487-56325664	GM12878	blood:	n/a	n/a
6	CTCF	chr12:56324267-56325940	SK-N-SH	brain:	n/a	chr12:56324677-56324685 chr12:56325122-56325130 chr12:56324672-56324690 chr12:56324674-56324695
7	POLR2A	chr12:56324680-56325458	GM12892	blood:	n/a	n/a
8	CTCF	chr12:56325080-56325230	AG10803	skin:	n/a	chr12:56325122-56325130
9	MAX	chr12:56324555-56326232	ECC-1	luminal epithelium:	n/a	n/a
10	RAD21	chr12:56324368-56326036	SK-N-SH	brain:	n/a	chr12:56324675-56324682 chr12:56325104-56325116 chr12:56324673-56324692 chr12:56324677-56324686
11	ZBTB7A	chr12:56324564-56326489	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr12:56325041-56325364	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT5A	chr12:56324979-56325449	GM12878	blood:	n/a	n/a
14	CTCF	chr12:56325080-56325230	HRPEpiC	eye:	n/a	chr12:56325122-56325130
15	MAZ	chr12:56324459-56326683	IMR90	lung:	n/a	n/a
16	ZBTB7A	chr12:56324803-56326506	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr12:56324438-56326096	A549	lung:	n/a	n/a
18	POLR2A	chr12:56324453-56326067	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr12:56324885-56325492	Hela-S3	cervix:	n/a	n/a
20	RCOR1	chr12:56324541-56325661	K562	blood:	n/a	n/a
21	POLR2A	chr12:56325204-56326134	K562	blood:	n/a	n/a
22	MTA3	chr12:56324328-56325797	GM12878	blood:	n/a	n/a
23	FOXM1	chr12:56324428-56325298	GM12878	blood:	n/a	n/a
24	ZEB1	chr12:56324839-56325259	GM12878	blood:	n/a	n/a
25	STAT5A	chr12:56324544-56325775	GM12878	blood:	n/a	chr12:56324840-56324849 chr12:56324825-56324848 chr12:56325537-56325549 chr12:56324837-56324851 chr12:56324839-56324848
26	POLR2A	chr12:56325062-56325229	MCF10A-Er-Src	breast:	n/a	n/a
27	CTCF	chr12:56325100-56325250	AG10803	skin:	n/a	chr12:56325122-56325130
28	POLR2A	chr12:56324418-56325482	HCT-116	colon:	n/a	n/a
29	MTA3	chr12:56324607-56325382	GM12878	blood:	n/a	n/a
30	TCF12	chr12:56325142-56325845	A549	lung:	n/a	n/a
31	POLR2A	chr12:56324741-56326182	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr12:56324501-56325754	GM12891	blood:	n/a	n/a
33	POLR2A	chr12:56324469-56326750	GM12878	blood:	n/a	n/a
34	TCF12	chr12:56324605-56326150	ECC-1	luminal epithelium:	n/a	chr12:56324821-56324828
35	POLR2A	chr12:56324213-56326087	SK-N-MC	brain:	n/a	n/a
36	RUNX3	chr12:56324454-56325478	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:56324853-56325296	GM12878	blood:	n/a	n/a
38	ATF2	chr12:56324407-56325316	GM12878	blood:	n/a	n/a
39	CTCF	chr12:56325040-56325270	HMEC	breast:	n/a	chr12:56325122-56325130
40	POLR2A	chr12:56324495-56325224	SK-N-MC	brain:	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	chr12:56325013..56327160-chr12:56358376..56361876,4	MCF-7	breast:
11	chr12:56217992..56226798-chr12:56311494..56331042,68	MCF-7	breast:
12	chr12:56217492..56232243-chr12:56318854..56330686,48	MCF-7	breast:
13	chr12:56323635..56325370-chr12:56366168..56367925,2	K562	blood:
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	chr12:56324707..56325597-chr12:56434977..56435647,2	MCF-7	breast:
19	chr12:56320184..56328034-chr12:56431937..56442233,20	MCF-7	breast:
20	chr12:56217816..56225905-chr12:56319649..56327312,13	K562	blood:
21	chr12:56320862..56327055-chr12:56370927..56377943,9	MCF-7	breast:
22	chr12:56324994..56327276-chr12:56346740..56350037,3	MCF-7	breast:
23	chr12:56319350..56329795-chr12:56348492..56353182,19	MCF-7	breast:

No data

Variant related genes	Relation type
DGKA	TF binding region
WIBG	TF binding region
ENSG00000255990	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000237493	Chromatin interaction
ENSG00000123411	Chromatin interaction
ENSG00000170421	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000111057	Chromatin interaction
ENSG00000258554	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000185664	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]
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]
rs772701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	chr12:56321600-56327000	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	chr12:56324400-56325400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr12:56324400-56325400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:56324400-56325400	Flanking Active TSS	GM12878-XiMat	blood
13	chr12:56324400-56325400	Flanking Active TSS	NHDF-Ad	bronchial
14	chr12:56324400-56325600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:56324400-56325600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:56324400-56325600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:56324400-56325600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr12:56324400-56325600	Flanking Active TSS	HMEC	breast
19	chr12:56324400-56326000	Enhancers	Fetal Heart	heart
20	chr12:56324400-56327000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:56324600-56325600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:56324600-56325600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr12:56324600-56325600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr12:56324600-56325600	Flanking Active TSS	Right Ventricle	heart
25	chr12:56324600-56325600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr12:56324600-56325800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:56324600-56326400	Active TSS	Fetal Thymus	thymus
28	chr12:56324800-56325400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
29	chr12:56324800-56325400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:56324800-56325400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:56324800-56325400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr12:56324800-56325400	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr12:56324800-56325400	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr12:56324800-56325400	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr12:56324800-56325400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:56324800-56325400	Flanking Active TSS	Colonic Mucosa	Colon
37	chr12:56324800-56325400	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr12:56324800-56325400	Flanking Active TSS	Fetal Brain Female	brain
39	chr12:56324800-56325400	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr12:56324800-56325400	Flanking Active TSS	Stomach Mucosa	stomach
41	chr12:56324800-56325400	Flanking Active TSS	HSMM	muscle
42	chr12:56324800-56325600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:56324800-56325600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr12:56324800-56325600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:56324800-56325600	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr12:56324800-56325600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:56324800-56325600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:56324800-56325600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr12:56324800-56325600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:56324800-56325600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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