Variant report

Variant	rs7955365
Chromosome Location	chr12:31813304-31813305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:31813240-31813390	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr12:31813200-31813350	RPTEC	kidney:	n/a	n/a
3	CTCF	chr12:31813180-31813330	AG04450	lung:	n/a	n/a
4	POLR2A	chr12:31813262-31813318	K562	blood:	n/a	n/a
5	CTCF	chr12:31813240-31813390	AG10803	skin:	n/a	n/a
6	MXI1	chr12:31811434-31813575	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr12:31813200-31813350	AoAF	blood vessel:	n/a	n/a
8	CTCF	chr12:31813160-31813310	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr12:31813160-31813310	HBMEC	blood vessel:	n/a	n/a
10	CUX1	chr12:31813161-31813361	K562	blood:	n/a	n/a
11	CTCF	chr12:31813200-31813350	HMF	breast:	n/a	n/a
12	CTCF	chr12:31813180-31813330	A549	lung:	n/a	n/a
13	ZC3H11A	chr12:31813302-31813339	K562	blood:	n/a	n/a
14	GTF3C2	chr12:31812430-31813329	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr12:31813200-31813350	HCT-116	colon:	n/a	n/a
16	CTCF	chr12:31813200-31813350	AG04450	lung:	n/a	n/a
17	CTCF	chr12:31813140-31813356	K562	blood:	n/a	n/a
18	CTCF	chr12:31813220-31813370	HAc	cerebellar:	n/a	n/a
19	CTCF	chr12:31813220-31813370	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr12:31813160-31813310	GM12873	blood:	n/a	n/a
21	ZNF384	chr12:31811474-31813422	K562	blood:	n/a	n/a
22	CTCF	chr12:31813240-31813390	HCFaa	heart:	n/a	n/a
23	CTCF	chr12:31813240-31813390	AG09319	gingival:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:31476939..31478876-chr12:31810425..31813843,3	MCF-7	breast:
2	chr12:31812410..31814271-chr12:31879800..31882059,2	MCF-7	breast:
3	chr12:31811076..31814149-chr12:31866420..31869336,3	K562	blood:
4	chr12:31812744..31814749-chr12:31824204..31825895,2	MCF-7	breast:

No data

Variant related genes	Relation type
METTL20	TF binding region
ENSG00000151743	Chromatin interaction
ENSG00000177340	Chromatin interaction
ENSG00000266482	Chromatin interaction
ENSG00000139146	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10843992	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11051514	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051515	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11051516	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11051517	0.98[ASN][1000 genomes]
rs11051519	0.87[ASN][1000 genomes]
rs11051527	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11051534	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11051535	0.85[ASN][1000 genomes]
rs11051536	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11051538	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11051540	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4931536	0.87[ASN][1000 genomes]
rs4931538	0.87[ASN][1000 genomes]
rs4931546	0.82[ASN][1000 genomes]
rs59091295	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61561194	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7308889	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7316528	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7959989	0.90[ASN][1000 genomes]

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	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31811200-31813400	Active TSS	Brain Anterior Caudate	brain
2	chr12:31811200-31813400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:31811200-31813400	Active TSS	Stomach Smooth Muscle	stomach
4	chr12:31811200-31813600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:31811400-31813400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:31811400-31813400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:31811400-31813400	Active TSS	Aorta	Aorta
8	chr12:31811400-31813400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr12:31811400-31813400	Active TSS	Left Ventricle	heart
10	chr12:31811400-31813400	Active TSS	Right Atrium	heart
11	chr12:31811400-31813600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:31811400-31813800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:31811600-31813400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:31811600-31813400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:31811600-31813400	Active TSS	Pancreas	Pancrea
16	chr12:31811600-31813400	Active TSS	Right Ventricle	heart
17	chr12:31811800-31813400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr12:31811800-31813400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:31811800-31813400	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr12:31811800-31813400	Active TSS	Duodenum Mucosa	Duodenum
21	chr12:31811800-31813400	Active TSS	Fetal Brain Female	brain
22	chr12:31811800-31813400	Active TSS	Ovary	ovary
23	chr12:31811800-31813400	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr12:31811800-31813400	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr12:31811800-31813400	Active TSS	A549	lung
26	chr12:31811800-31813400	Active TSS	GM12878-XiMat	blood
27	chr12:31811800-31813400	Active TSS	HSMMtube	muscle
28	chr12:31811800-31813400	Active TSS	NHDF-Ad	bronchial
29	chr12:31811800-31813400	Active TSS	NHEK	skin
30	chr12:31811800-31813400	Active TSS	NHLF	lung
31	chr12:31811800-31813600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:31811800-31813600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:31811800-31813600	Active TSS	K562	blood
34	chr12:31812800-31813400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr12:31812800-31813400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:31812800-31813400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr12:31812800-31813400	Active TSS	HepG2	liver
38	chr12:31812800-31818000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:31812800-31818000	Weak transcription	Spleen	Spleen
40	chr12:31812800-31818200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:31812800-31819600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:31812800-31823800	Weak transcription	Small Intestine	intestine
43	chr12:31813000-31813400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:31813000-31813400	Enhancers	Primary T cells from cord blood	blood
45	chr12:31813000-31813400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr12:31813000-31813400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr12:31813000-31813400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:31813000-31813400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr12:31813000-31813400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr12:31813000-31813400	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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