Variant report

Variant	rs2219383
Chromosome Location	chr12:10766798-10766799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr12:10766619-10766835	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:10765861-10767178	K562	blood:	n/a	n/a
3	TBP	chr12:10765737-10767082	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:10765867-10766963	ProgFib	skin:	n/a	n/a
5	HCFC1	chr12:10765788-10766874	K562	blood:	n/a	n/a
6	POLR2A	chr12:10764397-10767179	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:10765784-10767084	ECC-1	luminal epithelium:	n/a	n/a
8	HCFC1	chr12:10765011-10767004	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr12:10765898-10767236	HUVEC	blood vessel:	n/a	n/a
10	FOS	chr12:10766675-10766818	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr12:10765831-10766899	K562	blood:	n/a	n/a
12	RCOR1	chr12:10765936-10767015	Hela-S3	cervix:	n/a	n/a
13	ZMIZ1	chr12:10766027-10766920	K562	blood:	n/a	n/a
14	CHD2	chr12:10765909-10766834	K562	blood:	n/a	n/a
15	POLR2A	chr12:10765155-10767101	PBDE	blood:	n/a	n/a
16	JUND	chr12:10765196-10767091	SK-N-SH	brain:	n/a	chr12:10766189-10766198
17	CHD2	chr12:10765859-10766828	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:10765662-10767143	MCF10A-Er-Src	breast:	n/a	n/a
19	NFYB	chr12:10766197-10766854	Hela-S3	cervix:	n/a	n/a
20	MAX	chr12:10765733-10766980	A549	lung:	n/a	chr12:10766012-10766019
21	CHD2	chr12:10765947-10766851	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr12:10765902-10766887	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr12:10766636-10766930	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr12:10765299-10767010	GM19193	blood:	n/a	n/a
25	JUND	chr12:10765671-10766973	GM12878	blood:	n/a	chr12:10766189-10766198
26	MXI1	chr12:10765905-10767068	IMR90	lung:	n/a	n/a
27	POLR2A	chr12:10766760-10766892	GM12878	blood:	n/a	n/a
28	MAX	chr12:10765749-10766964	ECC-1	luminal epithelium:	n/a	chr12:10766012-10766019
29	CHD1	chr12:10765456-10767159	GM12878	blood:	n/a	n/a
30	MAZ	chr12:10765688-10767348	IMR90	lung:	n/a	chr12:10766012-10766019
31	POLR2A	chr12:10765367-10766885	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:10764544-10767138	GM18505	blood:	n/a	n/a
33	MTA3	chr12:10765526-10767002	GM12878	blood:	n/a	n/a
34	MAZ	chr12:10765980-10767061	GM12878	blood:	n/a	chr12:10766012-10766019
35	POLR2A	chr12:10764974-10767096	H1-hESC	embryonic stem cell:	n/a	n/a
36	RCOR1	chr12:10765976-10766863	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:10765160-10766944	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr12:10764431-10767480	GM12891	blood:	n/a	n/a
39	POLR2A	chr12:10765934-10767095	K562	blood:	n/a	n/a
40	BHLHE40	chr12:10765952-10766923	GM12878	blood:	n/a	n/a
41	POLR2A	chr12:10764541-10767013	IMR90	lung:	n/a	n/a
42	POLR2A	chr12:10764392-10767145	GM12878	blood:	n/a	n/a
43	MAX	chr12:10765683-10767018	A549	lung:	n/a	chr12:10766012-10766019
44	POLR2A	chr12:10765874-10766999	Raji	blood:	n/a	n/a
45	POLR2A	chr12:10765317-10767037	GM12892	blood:	n/a	n/a
46	POLR2A	chr12:10765250-10767023	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr12:10765240-10767135	HepG2	liver:	n/a	n/a
48	MXI1	chr12:10765314-10766873	GM12878	blood:	n/a	n/a
49	NFYB	chr12:10766160-10766836	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:10765220-10766953	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:10766141..10768697-chr12:10873862..10876046,3	MCF-7	breast:
2	chr12:10749754..10752517-chr12:10766526..10768155,2	MCF-7	breast:
3	chr1:16840506..16841094-chr12:10765990..10766908,2	Hela-S3	cervix:
4	chr12:10763668..10768180-chr12:10873034..10877438,4	K562	blood:
5	chr12:10764890..10767963-chr12:10824892..10828037,6	MCF-7	breast:
6	chr12:10757768..10761323-chr12:10763648..10767654,5	MCF-7	breast:
7	chr12:10367004..10369055-chr12:10765454..10767041,2	K562	blood:
8	chr12:10759828..10762348-chr12:10763400..10769792,9	K562	blood:
9	chr12:10763668..10768484-chr12:10873757..10876876,5	K562	blood:

No data

Variant related genes	Relation type
MAGOHB	TF binding region
ENSG00000256667	Chromatin interaction
ENSG00000255958	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000111196	Chromatin interaction
ENSG00000060138	Chromatin interaction
ENSG00000060140	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1026443	0.84[AMR][1000 genomes]
rs1026445	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1026446	0.84[AMR][1000 genomes]
rs1052871	0.91[EUR][1000 genomes]
rs10772332	0.93[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10772333	0.92[CEU][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10772335	0.93[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10845182	0.93[CEU][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2011295	0.81[CEU][hapmap];0.82[GIH][hapmap];0.84[AMR][1000 genomes]
rs2125088	0.91[MEX][hapmap]
rs2125089	0.93[CEU][hapmap];0.92[GIH][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes]
rs2125090	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2198965	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2243823	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs2417908	0.93[GIH][hapmap];0.90[MEX][hapmap]
rs2682484	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs3463	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs3947920	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4237930	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs4763208	0.93[CEU][hapmap];0.90[MEX][hapmap];0.86[EUR][1000 genomes]
rs4763209	0.93[CEU][hapmap];0.92[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4763210	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4763211	0.94[ASW][hapmap];0.85[CEU][hapmap];0.96[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763562	0.82[GIH][hapmap];0.82[MEX][hapmap];0.84[AMR][1000 genomes]
rs4763563	0.81[AMR][1000 genomes]
rs6488312	0.93[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6488313	0.93[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7308433	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7311796	0.93[CEU][hapmap];0.92[GIH][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes]
rs7316237	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965803	0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7976279	0.93[CEU][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs953248	0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.97[AMR][1000 genomes];0.98[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	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv528941	chr12:10766798-10766880	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2219383	HEBP1	cis	cerebellum	SCAN
rs2219383	KLRC3	cis	cerebellum	SCAN
rs2219383	KLRC2	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10764600-10766800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:10764600-10766800	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr12:10764600-10767000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:10764600-10767200	Active TSS	K562	blood
5	chr12:10764800-10766800	Active TSS	GM12878-XiMat	blood
6	chr12:10764800-10767000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr12:10764800-10767000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr12:10764800-10767000	Active TSS	Fetal Intestine Large	intestine
9	chr12:10764800-10767000	Active TSS	Right Ventricle	heart
10	chr12:10764800-10767200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:10764800-10767200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr12:10764800-10767200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr12:10764800-10767200	Active TSS	Right Atrium	heart
14	chr12:10765000-10766800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr12:10765000-10766800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:10765000-10766800	Active TSS	Left Ventricle	heart
17	chr12:10765000-10766800	Active TSS	Rectal Smooth Muscle	rectum
18	chr12:10765000-10767000	Active TSS	Fetal Muscle Trunk	muscle
19	chr12:10765000-10767000	Active TSS	Fetal Stomach	stomach
20	chr12:10765000-10767000	Active TSS	NHDF-Ad	bronchial
21	chr12:10765000-10767200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr12:10765000-10767200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:10765000-10767200	Active TSS	Fetal Intestine Small	intestine
24	chr12:10765200-10766800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:10765200-10766800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr12:10765200-10766800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:10765200-10766800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:10765200-10766800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:10765200-10766800	Active TSS	Ovary	ovary
30	chr12:10765200-10766800	Active TSS	HSMM	muscle
31	chr12:10765200-10767000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:10765200-10767000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:10765200-10767000	Active TSS	Psoas Muscle	Psoas
34	chr12:10765200-10767200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:10765200-10767400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:10765400-10766800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr12:10765400-10766800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:10765400-10766800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:10765400-10766800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:10765400-10766800	Active TSS	Esophagus	oesophagus
41	chr12:10765400-10766800	Active TSS	Placenta Amnion	Placenta Amnion
42	chr12:10765400-10766800	Active TSS	Hela-S3	cervix
43	chr12:10765400-10767000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:10765400-10767000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:10765400-10767000	Active TSS	Aorta	Aorta
46	chr12:10765400-10767000	Active TSS	Stomach Smooth Muscle	stomach
47	chr12:10765600-10766800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:10765600-10766800	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr12:10765600-10766800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:10765600-10766800	Active TSS	Colon Smooth Muscle	Colon

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