Variant report

Variant	rs705707
Chromosome Location	chr12:56436610-56436611
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:71)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56435281-56436907	GM12892	blood:	n/a	n/a
2	HEY1	chr12:56436267-56437100	K562	blood:	n/a	n/a
3	POLR2A	chr12:56436405-56437109	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr12:56435531-56436661	GM12891	blood:	n/a	n/a
5	POLR2A	chr12:56435185-56437122	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:56435137-56437130	MCF10A-Er-Src	breast:	n/a	n/a
7	HCFC1	chr12:56434977-56437034	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:56435047-56437051	U87	brain:	n/a	n/a
9	POLR2A	chr12:56434834-56437950	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr12:56436441-56436817	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr12:56435527-56438039	PFSK-1	brain:	n/a	n/a
12	IRF1	chr12:56436464-56436818	K562	blood:	n/a	n/a
13	POLR2A	chr12:56436512-56436748	HUVEC	blood vessel:	n/a	n/a
14	CHD1	chr12:56436506-56436644	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:56436319-56436633	U87	brain:	n/a	n/a
16	CHD1	chr12:56435113-56437155	IMR90	lung:	n/a	chr12:56435500-56435510
17	SIN3AK20	chr12:56436348-56436725	A549	lung:	n/a	n/a
18	POLR2A	chr12:56435041-56437124	U87	brain:	n/a	n/a
19	MAFF	chr12:56436578-56436731	K562	blood:	n/a	n/a
20	MAX	chr12:56435158-56436636	ECC-1	luminal epithelium:	n/a	chr12:56435973-56435983
21	REST	chr12:56434795-56436618	H1-neurons	neurons:	n/a	chr12:56435970-56435983
22	POLR2A	chr12:56436377-56437058	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr12:56435488-56436692	HUVEC	blood vessel:	n/a	n/a
24	MXI1	chr12:56436457-56437002	K562	blood:	n/a	n/a
25	POLR2A	chr12:56436538-56437010	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr12:56435217-56438062	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:56436379-56437074	HCT-116	colon:	n/a	n/a
28	POLR2A	chr12:56434982-56438055	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr12:56436298-56437081	HL-60	blood:	n/a	n/a
30	POLR2A	chr12:56435184-56437011	GM12891	blood:	n/a	n/a
31	POLR2A	chr12:56436339-56437099	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr12:56436495-56436942	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr12:56435087-56437103	GM12892	blood:	n/a	n/a
34	WRNIP1	chr12:56435280-56436733	GM12878	blood:	n/a	n/a
35	PML	chr12:56434971-56436617	GM12878	blood:	n/a	n/a
36	POLR2A	chr12:56435075-56437192	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr12:56435158-56436961	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr12:56435199-56436626	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr12:56436453-56436893	K562	blood:	n/a	n/a
40	POLR2A	chr12:56435158-56437080	GM12892	blood:	n/a	n/a
41	POLR2A	chr12:56434970-56437093	PFSK-1	brain:	n/a	n/a
42	TBL1XR1	chr12:56436547-56436810	K562	blood:	n/a	n/a
43	SIN3AK20	chr12:56435030-56436615	MCF-7	breast:	n/a	n/a
44	CUX1	chr12:56436552-56436752	K562	blood:	n/a	n/a
45	POLR2A	chr12:56436359-56436911	GM12891	blood:	n/a	n/a
46	POLR2A	chr12:56436295-56436872	K562	blood:	n/a	n/a
47	HEY1	chr12:56436506-56436868	HepG2	liver:	n/a	n/a
48	TAF1	chr12:56435059-56436735	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:71 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:56435781..56437375-chr12:56520741..56523293,2	MCF-7	breast:
2	chr12:56435284..56441183-chr12:56476886..56481327,8	MCF-7	breast:
3	chr12:56435355..56437386-chr12:56546202..56547855,2	MCF-7	breast:
4	chr12:56134994..56138951-chr12:56434925..56437351,5	MCF-7	breast:
5	chr12:56395246..56396955-chr12:56435355..56437007,2	K562	blood:
6	chr12:56221098..56224816-chr12:56434415..56439287,4	MCF-7	breast:
7	chr12:56366879..56368778-chr12:56434721..56436659,2	MCF-7	breast:
8	chr12:56359758..56363158-chr12:56433727..56437301,5	K562	blood:
9	chr12:56433777..56443620-chr12:56502225..56514736,38	MCF-7	breast:
10	chr12:56435009..56437350-chr12:56488279..56490775,3	MCF-7	breast:
11	chr12:56434529..56437485-chr12:56581091..56583996,4	K562	blood:
12	chr12:56361700..56363713-chr12:56435997..56439581,3	MCF-7	breast:
13	chr12:56435601..56437122-chr12:56532244..56534528,2	MCF-7	breast:
14	chr12:56318003..56321783-chr12:56433300..56437111,4	K562	blood:
15	chr12:56434034..56442629-chr12:56495467..56501430,16	MCF-7	breast:
16	chr12:56417053..56422414-chr12:56432550..56437155,7	K562	blood:
17	chr12:56398217..56408038-chr12:56433794..56439966,15	K562	blood:
18	chr12:56434287..56437375-chr12:56519229..56523765,7	K562	blood:
19	chr12:56421691..56428762-chr12:56433229..56437460,13	MCF-7	breast:
20	chr12:56119294..56126638-chr12:56434111..56441706,13	K562	blood:
21	chr12:56399898..56405642-chr12:56433175..56438589,7	K562	blood:
22	chr12:56363397..56371565-chr12:56432514..56437993,13	K562	blood:
23	chr12:56434164..56442518-chr12:56471459..56476251,24	MCF-7	breast:
24	chr12:56434645..56437118-chr9:9089375..9092373,2	K562	blood:
25	chr12:56433873..56442113-chr12:56515349..56524351,14	K562	blood:
26	chr12:56435886..56436626-chr14:69444318..69444908,2	Hela-S3	cervix:
27	chr12:56431889..56443161-chr12:56494616..56500426,22	MCF-7	breast:
28	chr12:56434006..56443603-chr12:56507645..56514884,44	K562	blood:
29	chr12:56364726..56370308-chr12:56432734..56438629,15	K562	blood:
30	chr12:56434525..56442579-chr12:56469196..56475242,12	K562	blood:
31	chr12:56398950..56401873-chr12:56435306..56438317,7	MCF-7	breast:
32	chr12:56434062..56437733-chr12:56543304..56547386,5	K562	blood:
33	chr12:56415172..56417202-chr12:56434468..56437064,2	MCF-7	breast:
34	chr12:56387772..56393921-chr12:56435042..56439277,13	MCF-7	breast:
35	chr12:56387084..56388858-chr12:56435939..56438743,3	K562	blood:
36	chr12:56364085..56366217-chr12:56434598..56438715,3	MCF-7	breast:
37	chr12:56434544..56443137-chr12:56494029..56505252,21	K562	blood:
38	chr12:56222083..56225232-chr12:56434095..56438071,8	MCF-7	breast:
39	chr12:56435618..56442072-chr12:56498381..56502676,10	K562	blood:
40	chr12:56320184..56328034-chr12:56431937..56442233,20	MCF-7	breast:
41	chr12:56410866..56413481-chr12:56435830..56438234,2	K562	blood:
42	chr12:56434374..56437071-chr12:56550642..56553636,4	MCF-7	breast:
43	chr12:56433331..56443603-chr12:56506173..56514581,35	K562	blood:
44	chr12:56434874..56437408-chr12:56478548..56481298,5	MCF-7	breast:
45	chr12:56364512..56372057-chr12:56434108..56438254,11	MCF-7	breast:
46	chr12:56115280..56117661-chr12:56434487..56437125,2	MCF-7	breast:
47	chr12:56434536..56437733-chr12:56543304..56547761,4	K562	blood:
48	chr12:56360017..56362011-chr12:56434506..56437466,2	K562	blood:
49	chr12:56331445..56332986-chr12:56434203..56437015,2	MCF-7	breast:
50	chr12:56434140..56437753-chr12:56579716..56586472,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257449	TF binding region
ENSG00000249494	Chromatin interaction
ENSG00000123411	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000258317	Chromatin interaction
ENSG00000135437	Chromatin interaction
ENSG00000257411	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000139613	Chromatin interaction
ENSG00000139531	Chromatin interaction
ENSG00000072110	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000170515	Chromatin interaction
ENSG00000257809	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000257553	Chromatin interaction
ENSG00000257384	Chromatin interaction
ENSG00000258056	Chromatin interaction
ENSG00000212829	Chromatin interaction
ENSG00000258199	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000172869	Chromatin interaction
ENSG00000258554	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000196465	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000258345	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1274298	1.00[ASN][1000 genomes]
rs12810816	1.00[ASN][1000 genomes]
rs1290898	1.00[ASN][1000 genomes]
rs1689513	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17118313	1.00[ASN][1000 genomes]
rs17844795	1.00[ASN][1000 genomes]
rs34457402	1.00[ASN][1000 genomes]
rs35436573	1.00[ASN][1000 genomes]
rs703822	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs705703	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73340323	1.00[ASN][1000 genomes]
rs773121	1.00[ASN][1000 genomes]
rs773122	1.00[ASN][1000 genomes]
rs773123	1.00[ASN][1000 genomes]
rs773643	1.00[ASN][1000 genomes]
rs773645	1.00[ASN][1000 genomes]
rs773649	1.00[ASN][1000 genomes]
rs773662	1.00[ASN][1000 genomes]
rs7958618	1.00[ASN][1000 genomes]
rs7977273	1.00[ASN][1000 genomes]
rs812826	1.00[ASN][1000 genomes]
rs812842	1.00[ASN][1000 genomes]

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	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
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv1067906	chr12:56424828-56445284	Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv973074	chr12:56435853-56437993	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56434400-56436800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:56434600-56436800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr12:56434600-56436800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:56434600-56436800	Active TSS	NHLF	lung
5	chr12:56434600-56437200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:56434800-56436800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:56434800-56437000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:56434800-56437000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:56435000-56436800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr12:56435000-56436800	Active TSS	Esophagus	oesophagus
11	chr12:56435000-56436800	Active TSS	Right Atrium	heart
12	chr12:56435000-56436800	Active TSS	HSMMtube	muscle
13	chr12:56435000-56436800	Active TSS	NH-A	brain
14	chr12:56435000-56437000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr12:56435000-56437400	Active TSS	Right Ventricle	heart
16	chr12:56435200-56436800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:56435200-56436800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:56435200-56436800	Active TSS	Fetal Intestine Large	intestine
19	chr12:56435200-56436800	Active TSS	Fetal Stomach	stomach
20	chr12:56435200-56436800	Active TSS	Left Ventricle	heart
21	chr12:56435200-56436800	Active TSS	Lung	lung
22	chr12:56435200-56436800	Active TSS	Ovary	ovary
23	chr12:56435200-56436800	Active TSS	Pancreas	Pancrea
24	chr12:56435200-56436800	Active TSS	Placenta Amnion	Placenta Amnion
25	chr12:56435200-56436800	Active TSS	Small Intestine	intestine
26	chr12:56435400-56436800	Active TSS	Fetal Intestine Small	intestine
27	chr12:56435400-56436800	Active TSS	Fetal Kidney	kidney
28	chr12:56435400-56436800	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr12:56435400-56436800	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr12:56435400-56436800	Active TSS	HMEC	breast
31	chr12:56435600-56436800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:56435600-56436800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:56435600-56437000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:56435600-56437000	Active TSS	Gastric	stomach
35	chr12:56435800-56437000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
36	chr12:56435800-56437200	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr12:56435800-56437600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:56436000-56437000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:56436000-56437600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
40	chr12:56436000-56437600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
41	chr12:56436000-56437600	Transcr. at gene 5' and 3'	Dnd41	blood
42	chr12:56436200-56436800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr12:56436200-56436800	Active TSS	Aorta	Aorta
44	chr12:56436200-56436800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr12:56436200-56437000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr12:56436400-56436800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr12:56436400-56436800	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr12:56436400-56436800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr12:56436400-56436800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:56436400-56436800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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