Variant report

Variant	rs59902644
Chromosome Location	chr12:121128317-121128318
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr12:121127729-121128331	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121128268-121128318	ECC-1	luminal epithelium:	n/a
2	chr12:121128268-121128318	HRPEpiC	eye:	n/a
3	chr12:121128268-121128318	HL-60	blood:	n/a
4	chr12:121128268-121128318	HPAEpiC	pulmonary alveolar:	n/a
5	chr12:121128268-121128318	HAEpiC	amniotic membrane:	n/a
6	chr12:121128268-121128318	LNCaP	prostate:	n/a
7	chr12:121128268-121128318	T-47D	breast:	n/a
8	chr12:121128268-121128318	SK-N-SH_RA	brain:	n/a
9	chr12:121128268-121128318	NHBE	bronchial:	n/a
10	chr12:121128268-121128318	PFSK-1	brain:	n/a
11	chr12:121128268-121128318	GM12891	blood:	n/a
12	chr12:121128268-121128318	NH-A	brain:	n/a
13	chr12:121128268-121128318	HIPEpiC	eye:	n/a
14	chr12:121128268-121128318	BJ	skin:	n/a
15	chr12:121128268-121128318	AG09319	gingival:	n/a
16	chr12:121128268-121128318	HepG2	liver:	n/a
17	chr12:121128268-121128318	GM19239	blood:	n/a
18	chr12:121128268-121128318	AG04449	skin:	fetal
19	chr12:121128268-121128318	GM12878	blood:	n/a
20	chr12:121128268-121128318	CMK	blood:	n/a
21	chr12:121128268-121128318	SK-N-MC	brain:	n/a
22	chr12:121128268-121128318	PrEC	prostate:	n/a
23	chr12:121128268-121128318	PANC-1	pancreas:	n/a
24	chr12:121128268-121128318	K562	blood:	n/a
25	chr12:121128268-121128318	Jurkat	blood:	n/a
26	chr12:121128268-121128318	SAEC	small airway:	n/a
27	chr12:121128268-121128318	AG04450	lung:	fetal
28	chr12:121128268-121128318	MCF10A-Er-Src	breast:	n/a
29	chr12:121128268-121128318	A549	lung:	n/a
30	chr12:121128268-121128318	NT2-D1	testis:	n/a
31	chr12:121128268-121128318	HCPEpiC	choroid plexus:	n/a
32	chr12:121128268-121128318	Caco-2	colon:	n/a
33	chr12:121128268-121128318	NHDF-neo	bronchial:	n/a
34	chr12:121128268-121128318	H1-hESC	embryonic stem cell:	embryo
35	chr12:121128268-121128318	HEEpiC	esophagus:	n/a
36	chr12:121128268-121128318	Hela-S3	cervix:	n/a
37	chr12:121128268-121128318	MCF-7	breast:	n/a
38	chr12:121128268-121128318	AoSMC	blood vessel:	n/a
39	chr12:121128268-121128318	BE2_C	brain:	n/a
40	chr12:121128268-121128318	SKMC	muscle:	n/a
41	chr12:121128268-121128318	SK-N-SH	brain:	n/a
42	chr12:121128268-121128318	HNPCEpiC	eye:	n/a
43	chr12:121128268-121128318	GM12892	blood:	n/a
44	chr12:121128268-121128318	RPTEC	kidney:	n/a
45	chr12:121128268-121128318	HRE	kidney:	n/a
46	chr12:121128268-121128318	ProgFib	skin:	n/a
47	chr12:121128268-121128318	HCF	heart:	n/a
48	chr12:121128268-121128318	U87	brain:	n/a
49	chr12:121128268-121128318	AG10803	skin:	n/a
50	chr12:121128268-121128318	NB4	blood:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121125276..121128582-chr12:121139011..121141679,3	MCF-7	breast:
2	chr12:121127233..121131774-chr12:121146015..121149455,5	MCF-7	breast:
3	chr12:121092373..121094051-chr12:121128187..121130355,2	MCF-7	breast:
4	chr12:121083368..121085683-chr12:121126949..121129432,2	MCF-7	breast:
5	chr12:121126786..121129760-chr12:121147311..121149770,4	MCF-7	breast:
6	chr12:121115639..121118008-chr12:121125789..121128419,2	K562	blood:

No data

Variant related genes	Relation type
MLEC	TF binding region
MLEC	CpG island
ENSG00000175970	Chromatin interaction
ENSG00000157782	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11556442	0.84[AFR][1000 genomes]
rs12424591	1.00[ASN][1000 genomes]
rs12425951	1.00[ASN][1000 genomes]
rs12426170	1.00[ASN][1000 genomes]
rs35014778	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3751163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476676	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510900	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs547245	1.00[ASN][1000 genomes]
rs56091449	0.95[ASN][1000 genomes]
rs57860907	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs644065	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs696335	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs696336	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs696338	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71454659	1.00[ASN][1000 genomes]
rs73222802	1.00[ASN][1000 genomes]
rs73225008	1.00[ASN][1000 genomes]
rs73225010	1.00[ASN][1000 genomes]
rs73225016	1.00[ASN][1000 genomes]
rs73225017	1.00[ASN][1000 genomes]
rs73225026	0.95[ASN][1000 genomes]
rs73225027	0.95[ASN][1000 genomes]
rs73225031	0.95[ASN][1000 genomes]
rs73225032	0.95[ASN][1000 genomes]
rs8295	0.95[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv3498619	chr12:121124863-121129114	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv3498630	chr12:121124863-121129114	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr12:121126000-121129000	Enhancers	Spleen	Spleen
2	chr12:121126200-121130400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:121126800-121128600	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:121126800-121129600	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr12:121126800-121131000	Enhancers	Placenta	Placenta
6	chr12:121127000-121129000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:121127000-121131400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:121127200-121128400	Genic enhancers	Primary T cells from cord blood	blood
9	chr12:121127200-121128800	Enhancers	Brain Angular Gyrus	brain
10	chr12:121127200-121129000	Enhancers	Thymus	Thymus
11	chr12:121127200-121131000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr12:121127400-121128400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:121127400-121128600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:121127400-121128800	Enhancers	Lung	lung
15	chr12:121127400-121128800	Enhancers	Ovary	ovary
16	chr12:121127400-121129200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:121127400-121129600	Enhancers	Gastric	stomach
18	chr12:121127400-121130000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:121127400-121130200	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:121127400-121130800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:121127400-121131000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:121127400-121131800	Weak transcription	Fetal Brain Female	brain
23	chr12:121127600-121128400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr12:121127600-121128400	Active TSS	Right Atrium	heart
25	chr12:121127600-121128400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr12:121127600-121128400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr12:121127600-121128600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:121127600-121128600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:121127600-121128600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:121127600-121128600	Weak transcription	Colonic Mucosa	Colon
31	chr12:121127600-121128600	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr12:121127600-121128600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr12:121127600-121128600	Enhancers	Fetal Thymus	thymus
34	chr12:121127600-121128600	Genic enhancers	Dnd41	blood
35	chr12:121127600-121128800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:121127600-121129000	Enhancers	Pancreas	Pancrea
37	chr12:121127600-121129000	Weak transcription	Small Intestine	intestine
38	chr12:121127600-121129000	Genic enhancers	K562	blood
39	chr12:121127600-121129200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:121127600-121129200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr12:121127600-121129200	Enhancers	Primary hematopoietic stem cells	blood
42	chr12:121127600-121129200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr12:121127600-121129400	Enhancers	Fetal Heart	heart
44	chr12:121127600-121129600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr12:121127600-121130000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:121127600-121130000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:121127600-121130000	Enhancers	Liver	Liver
48	chr12:121127600-121130000	Weak transcription	NHDF-Ad	bronchial
49	chr12:121127600-121130000	Weak transcription	NHLF	lung
50	chr12:121127600-121130400	Weak transcription	H9 Cell Line	embryonic stem cell

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