Variant report

Variant	rs7316237
Chromosome Location	chr12:10766880-10766881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:10765861-10767178	K562	blood:	n/a	n/a
2	TBP	chr12:10765737-10767082	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:10765867-10766963	ProgFib	skin:	n/a	n/a
4	POLR2A	chr12:10764397-10767179	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:10765784-10767084	ECC-1	luminal epithelium:	n/a	n/a
6	HCFC1	chr12:10765011-10767004	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:10765898-10767236	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr12:10765831-10766899	K562	blood:	n/a	n/a
9	RCOR1	chr12:10765936-10767015	Hela-S3	cervix:	n/a	n/a
10	ZMIZ1	chr12:10766027-10766920	K562	blood:	n/a	n/a
11	POLR2A	chr12:10765155-10767101	PBDE	blood:	n/a	n/a
12	JUND	chr12:10765196-10767091	SK-N-SH	brain:	n/a	chr12:10766189-10766198
13	POLR2A	chr12:10765662-10767143	MCF10A-Er-Src	breast:	n/a	n/a
14	MAX	chr12:10765733-10766980	A549	lung:	n/a	chr12:10766012-10766019
15	POLR2A	chr12:10765902-10766887	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr12:10766636-10766930	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr12:10765299-10767010	GM19193	blood:	n/a	n/a
18	JUND	chr12:10765671-10766973	GM12878	blood:	n/a	chr12:10766189-10766198
19	MXI1	chr12:10765905-10767068	IMR90	lung:	n/a	n/a
20	POLR2A	chr12:10766760-10766892	GM12878	blood:	n/a	n/a
21	MAX	chr12:10765749-10766964	ECC-1	luminal epithelium:	n/a	chr12:10766012-10766019
22	CHD1	chr12:10765456-10767159	GM12878	blood:	n/a	n/a
23	MAZ	chr12:10765688-10767348	IMR90	lung:	n/a	chr12:10766012-10766019
24	POLR2A	chr12:10765367-10766885	GM12878	blood:	n/a	n/a
25	POLR2A	chr12:10764544-10767138	GM18505	blood:	n/a	n/a
26	MTA3	chr12:10765526-10767002	GM12878	blood:	n/a	n/a
27	MAZ	chr12:10765980-10767061	GM12878	blood:	n/a	chr12:10766012-10766019
28	POLR2A	chr12:10764974-10767096	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr12:10765160-10766944	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr12:10764431-10767480	GM12891	blood:	n/a	n/a
31	POLR2A	chr12:10765934-10767095	K562	blood:	n/a	n/a
32	BHLHE40	chr12:10765952-10766923	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:10764541-10767013	IMR90	lung:	n/a	n/a
34	POLR2A	chr12:10764392-10767145	GM12878	blood:	n/a	n/a
35	MAX	chr12:10765683-10767018	A549	lung:	n/a	chr12:10766012-10766019
36	POLR2A	chr12:10765874-10766999	Raji	blood:	n/a	n/a
37	POLR2A	chr12:10765317-10767037	GM12892	blood:	n/a	n/a
38	POLR2A	chr12:10765250-10767023	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr12:10765240-10767135	HepG2	liver:	n/a	n/a
40	CUX1	chr12:10766799-10767108	K562	blood:	n/a	chr12:10766834-10766845 chr12:10766964-10766973
41	POLR2A	chr12:10765220-10766953	GM12878	blood:	n/a	n/a
42	CTCF	chr12:10766720-10767084	K562	blood:	n/a	n/a
43	POLR2A	chr12:10765149-10767080	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr12:10766179-10767131	GM12878	blood:	n/a	chr12:10766947-10766958
45	MXI1	chr12:10765397-10767155	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr12:10765258-10767202	HUVEC	blood vessel:	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
ENSG00000111196	Chromatin interaction
ENSG00000060140	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000060138	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	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1026446	0.82[CEU][hapmap];0.84[AMR][1000 genomes]
rs1052871	0.91[EUR][1000 genomes]
rs10772332	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10772333	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10772335	1.00[CEU][hapmap];1.00[CHD][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	1.00[CEU][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2011295	0.82[GIH][hapmap];0.84[AMR][1000 genomes]
rs2125088	0.91[MEX][hapmap]
rs2125089	1.00[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]
rs2219383	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]
rs2243823	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2417908	1.00[CHD][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap]
rs2682484	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs3463	0.93[CEU][hapmap];0.97[EUR][1000 genomes]
rs3947920	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4237930	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4763208	1.00[CEU][hapmap];0.90[MEX][hapmap];0.86[EUR][1000 genomes]
rs4763209	1.00[CEU][hapmap];1.00[CHD][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];0.93[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763562	0.82[CEU][hapmap];0.82[GIH][hapmap];0.82[MEX][hapmap];0.84[AMR][1000 genomes]
rs4763563	0.81[AMR][1000 genomes]
rs6488312	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6488313	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7308433	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7311796	1.00[CEU][hapmap];0.92[GIH][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes]
rs7965803	1.00[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	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs953248	1.00[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
rs7316237	HEBP1	cis	cerebellum	SCAN
rs7316237	KLRC2	cis	cerebellum	SCAN
rs7316237	KLRC3	cis	cerebellum	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10764600-10767000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:10764600-10767200	Active TSS	K562	blood
3	chr12:10764800-10767000	Active TSS	H1 Cell Line	embryonic stem cell
4	chr12:10764800-10767000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:10764800-10767000	Active TSS	Fetal Intestine Large	intestine
6	chr12:10764800-10767000	Active TSS	Right Ventricle	heart
7	chr12:10764800-10767200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:10764800-10767200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr12:10764800-10767200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:10764800-10767200	Active TSS	Right Atrium	heart
11	chr12:10765000-10767000	Active TSS	Fetal Muscle Trunk	muscle
12	chr12:10765000-10767000	Active TSS	Fetal Stomach	stomach
13	chr12:10765000-10767000	Active TSS	NHDF-Ad	bronchial
14	chr12:10765000-10767200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:10765000-10767200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:10765000-10767200	Active TSS	Fetal Intestine Small	intestine
17	chr12:10765200-10767000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:10765200-10767000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:10765200-10767000	Active TSS	Psoas Muscle	Psoas
20	chr12:10765200-10767200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:10765200-10767400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:10765400-10767000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:10765400-10767000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:10765400-10767000	Active TSS	Aorta	Aorta
25	chr12:10765400-10767000	Active TSS	Stomach Smooth Muscle	stomach
26	chr12:10765600-10767000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:10765600-10767000	Active TSS	Primary T cells fromperipheralblood	blood
28	chr12:10765600-10767000	Active TSS	Brain Cingulate Gyrus	brain
29	chr12:10765600-10767000	Active TSS	Brain Germinal Matrix	brain
30	chr12:10765600-10767000	Active TSS	Brain Hippocampus Middle	brain
31	chr12:10765600-10767000	Active TSS	Colonic Mucosa	Colon
32	chr12:10765600-10767000	Active TSS	Fetal Muscle Leg	muscle
33	chr12:10765600-10767000	Active TSS	Fetal Thymus	thymus
34	chr12:10765600-10767000	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr12:10765600-10767000	Active TSS	Stomach Mucosa	stomach
36	chr12:10765600-10767000	Active TSS	A549	lung
37	chr12:10765600-10767000	Active TSS	NHLF	lung
38	chr12:10765600-10767200	Active TSS	Brain Angular Gyrus	brain
39	chr12:10765600-10767200	Active TSS	Brain Anterior Caudate	brain
40	chr12:10765600-10767200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:10765600-10767200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr12:10765600-10767200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr12:10765600-10767200	Active TSS	NH-A	brain
44	chr12:10765600-10767600	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr12:10765800-10767000	Active TSS	Primary T cells from cord blood	blood
46	chr12:10765800-10767000	Active TSS	Adipose Nuclei	Adipose
47	chr12:10765800-10767000	Active TSS	Liver	Liver
48	chr12:10765800-10767000	Active TSS	Brain Substantia Nigra	brain
49	chr12:10765800-10767000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr12:10765800-10767200	Active TSS	Duodenum Mucosa	Duodenum

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