Variant report

Variant	rs1568918
Chromosome Location	chr12:123469141-123469142
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:123469026-123469509	ECC-1	luminal epithelium:	n/a	n/a
2	ELF1	chr12:123469070-123469569	K562	blood:	n/a	n/a
3	POLR2A	chr12:123468988-123469481	U87	brain:	n/a	n/a
4	MXI1	chr12:123468742-123469612	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:123468573-123469692	GM19193	blood:	n/a	n/a
6	POLR2A	chr12:123468999-123469486	U87	brain:	n/a	n/a
7	POLR2A	chr12:123467481-123470043	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr12:123468278-123469717	U87	brain:	n/a	n/a
9	POLR2A	chr12:123462020-123470019	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr12:123466333-123470624	K562	blood:	n/a	n/a
11	POLR2A	chr12:123469081-123469453	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr12:123469085-123469268	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:123468580-123470167	MCF10A-Er-Src	breast:	n/a	n/a
14	CEBPD	chr12:123469084-123469460	HepG2	liver:	n/a	n/a
15	POLR2A	chr12:123467600-123469651	HepG2	liver:	n/a	n/a
16	POLR2A	chr12:123468866-123469821	SK-N-SH	brain:	n/a	n/a
17	ELF1	chr12:123469104-123469512	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:123469100-123469547	HepG2	liver:	n/a	n/a
19	TAF1	chr12:123468748-123469363	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr12:123468420-123470561	GM12878	blood:	n/a	n/a
21	FOSL2	chr12:123469029-123469593	HepG2	liver:	n/a	n/a
22	MAX	chr12:123468677-123469866	HepG2	liver:	n/a	n/a
23	POLR2A	chr12:123469118-123469934	GM12891	blood:	n/a	n/a
24	POLR2A	chr12:123468765-123469617	HepG2	liver:	n/a	n/a
25	HEY1	chr12:123469088-123469583	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:123466896-123469748	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr12:123467205-123469730	HL-60	blood:	n/a	n/a
28	POLR2A	chr12:123468750-123469692	HepG2	liver:	n/a	n/a
29	ELF1	chr12:123468749-123469507	HepG2	liver:	n/a	n/a
30	POLR2A	chr12:123468989-123469451	Hela-S3	cervix:	n/a	n/a
31	BHLHE40	chr12:123468828-123469561	HepG2	liver:	n/a	n/a
32	POLR2A	chr12:123468561-123469904	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr12:123463863-123469964	PFSK-1	brain:	n/a	n/a
34	MAX	chr12:123468513-123470083	HepG2	liver:	n/a	n/a
35	MYBL2	chr12:123468564-123469900	HepG2	liver:	n/a	n/a
36	POLR2A	chr12:123467838-123469667	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr12:123468021-123470507	MCF10A-Er-Src	breast:	n/a	n/a
38	EP300	chr12:123469123-123469479	HepG2	liver:	n/a	n/a
39	POLR2A	chr12:123466981-123470521	GM12878	blood:	n/a	n/a
40	POLR2A	chr12:123468510-123469723	GM12892	blood:	n/a	n/a
41	POLR2A	chr12:123468091-123469679	HUVEC	blood vessel:	n/a	n/a
42	MYBL2	chr12:123468756-123469647	HepG2	liver:	n/a	n/a
43	POLR2A	chr12:123469100-123469502	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:123468284-123469711	U87	brain:	n/a	n/a
45	NFIC	chr12:123469007-123469789	HepG2	liver:	n/a	n/a
46	POLR2A	chr12:123468458-123470269	GM12891	blood:	n/a	n/a
47	SP1	chr12:123468697-123469560	HepG2	liver:	n/a	n/a
48	REST	chr12:123469067-123469594	HepG2	liver:	n/a	n/a
49	POLR2A	chr12:123466949-123469534	K562	blood:	n/a	n/a
50	POLR2A	chr12:123468483-123469865	GM12892	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123469090..123471551-chr12:123505815..123507895,2	MCF-7	breast:
2	chr12:123467975..123470307-chr12:123638971..123640597,2	MCF-7	breast:
3	chr12:123468264..123470538-chr12:123712723..123715235,2	MCF-7	breast:
4	chr12:123467378..123471463-chr12:123484194..123486166,3	MCF-7	breast:
5	chr12:123467906..123470215-chr12:123495247..123497244,2	K562	blood:
6	chr12:123468471..123472230-chr12:123634537..123637693,4	K562	blood:
7	chr12:123469032..123471248-chr12:123684974..123687831,2	K562	blood:
8	chr12:123468080..123470439-chr12:123573373..123575937,2	K562	blood:
9	chr12:123467368..123470978-chr12:123525099..123527744,3	K562	blood:
10	chr12:123356737..123358240-chr12:123467000..123469929,2	MCF-7	breast:

No data

Variant related genes	Relation type
ABCB9	TF binding region
ENSG00000051825	Chromatin interaction
ENSG00000265526	Chromatin interaction
ENSG00000090975	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10848076	0.80[ASN][1000 genomes]
rs11060993	0.85[ASN][1000 genomes]
rs3782289	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4148857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4148858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4148859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148864	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4148865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4759362	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs596940	0.85[ASN][1000 genomes]
rs7298563	0.80[ASN][1000 genomes]
rs73230017	0.90[ASN][1000 genomes]
rs7398697	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7967118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv899577	chr12:123435248-123484474	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv899578	chr12:123459005-123474529	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv560493	chr12:123467325-123479623	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123461400-123473200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:123466000-123469800	Enhancers	Fetal Heart	heart
3	chr12:123466400-123470200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:123466400-123473400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:123466600-123469200	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr12:123466600-123469400	Enhancers	NHDF-Ad	bronchial
7	chr12:123466600-123469600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:123466600-123469800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:123466600-123470000	Genic enhancers	Lung	lung
10	chr12:123466600-123470000	Enhancers	Right Atrium	heart
11	chr12:123466600-123470600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:123466600-123471400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:123466600-123483400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:123466800-123469600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:123466800-123469800	Enhancers	NH-A	brain
16	chr12:123466800-123470000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:123466800-123470200	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr12:123466800-123470400	Genic enhancers	Fetal Stomach	stomach
19	chr12:123466800-123471000	Genic enhancers	Liver	Liver
20	chr12:123466800-123472000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:123466800-123472400	Genic enhancers	Spleen	Spleen
22	chr12:123466800-123516000	Weak transcription	Small Intestine	intestine
23	chr12:123467000-123469600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:123467000-123469600	Genic enhancers	Rectal Mucosa Donor 29	rectum
25	chr12:123467000-123469800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr12:123467000-123469800	Genic enhancers	Placenta	Placenta
27	chr12:123467000-123469800	Enhancers	HUVEC	blood vessel
28	chr12:123467000-123470200	Enhancers	Brain Angular Gyrus	brain
29	chr12:123467000-123470200	Genic enhancers	Fetal Muscle Leg	muscle
30	chr12:123467000-123470400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr12:123467000-123474000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:123467200-123469200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:123467200-123469200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:123467200-123469200	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:123467200-123469600	Genic enhancers	Primary T cells fromperipheralblood	blood
36	chr12:123467200-123469600	Genic enhancers	Colonic Mucosa	Colon
37	chr12:123467200-123469800	Genic enhancers	Fetal Intestine Large	intestine
38	chr12:123467200-123470000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:123467200-123470200	Genic enhancers	Fetal Thymus	thymus
40	chr12:123467200-123470200	Genic enhancers	NHLF	lung
41	chr12:123467400-123469200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:123467400-123469200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr12:123467400-123469200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr12:123467400-123469200	Enhancers	Right Ventricle	heart
45	chr12:123467400-123469600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
46	chr12:123467400-123469600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr12:123467400-123470000	Genic enhancers	Fetal Intestine Small	intestine
48	chr12:123467400-123472000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:123467600-123504000	Weak transcription	Hela-S3	cervix
50	chr12:123467800-123469200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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