Variant report

Variant	rs10772335
Chromosome Location	chr12:10766244-10766245
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIX5	chr12:10765939-10766384	A549	lung:	n/a	n/a
2	REST	chr12:10765777-10766614	HL-60	blood:	n/a	n/a
3	REST	chr12:10765878-10766420	PFSK-1	brain:	n/a	n/a
4	BCLAF1	chr12:10765882-10766482	GM12878	blood:	n/a	chr12:10765952-10765961
5	YY1	chr12:10765736-10766569	GM12878	blood:	n/a	n/a
6	ELK1	chr12:10766020-10766455	Hela-S3	cervix:	n/a	n/a
7	TCF12	chr12:10765799-10766564	ECC-1	luminal epithelium:	n/a	n/a
8	ATF3	chr12:10765915-10766373	GM12878	blood:	n/a	chr12:10766178-10766198 chr12:10766187-10766197 chr12:10766190-10766198 chr12:10766189-10766200 chr12:10766190-10766200 chr12:10766187-10766200 chr12:10766190-10766200 chr12:10766189-10766197 chr12:10766187-10766198 chr12:10766190-10766201 chr12:10766186-10766201 chr12:10766188-10766199 chr12:10766187-10766200 chr12:10766190-10766197 chr12:10766188-10766201 chr12:10766186-10766199 chr12:10766211-10766222
9	EP300	chr12:10766078-10766602	GM12878	blood:	n/a	n/a
10	ATF2	chr12:10765762-10766658	GM12878	blood:	n/a	n/a
11	RFX5	chr12:10765952-10766400	HepG2	liver:	n/a	n/a
12	ZBTB33	chr12:10765989-10766476	K562	blood:	n/a	chr12:10766272-10766287
13	ATF2	chr12:10765592-10766551	H1-hESC	embryonic stem cell:	n/a	n/a
14	ELF1	chr12:10765940-10766358	K562	blood:	n/a	n/a
15	BRCA1	chr12:10766011-10766546	H1-hESC	embryonic stem cell:	n/a	n/a
16	MTA3	chr12:10765902-10766647	GM12878	blood:	n/a	n/a
17	NRF1	chr12:10766041-10766381	GM12878	blood:	n/a	n/a
18	E2F6	chr12:10765967-10766323	K562	blood:	n/a	chr12:10766188-10766197 chr12:10766190-10766199
19	POU2F2	chr12:10765950-10766386	GM12878	blood:	n/a	n/a
20	CTCF	chr12:10766208-10766268	Fibrobl	skin:	n/a	n/a
21	E2F4	chr12:10765909-10766365	Hela-S3	cervix:	n/a	chr12:10766188-10766197 chr12:10766190-10766199
22	GABPA	chr12:10766044-10766305	GM12878	blood:	n/a	n/a
23	NFIC	chr12:10765896-10766494	GM12878	blood:	n/a	n/a
24	FOS	chr12:10766057-10766369	MCF10A-Er-Src	breast:	n/a	chr12:10766189-10766198
25	CREB1	chr12:10765700-10766622	HepG2	liver:	n/a	chr12:10766187-10766200
26	JUND	chr12:10765981-10766361	H1-hESC	embryonic stem cell:	n/a	chr12:10766189-10766198
27	POLR2A	chr12:10765861-10767178	K562	blood:	n/a	n/a
28	POLR2A	chr12:10765877-10766548	PANC-1	pancreas:	n/a	n/a
29	SIN3AK20	chr12:10765885-10766622	MCF-7	breast:	n/a	n/a
30	POLR2A	chr12:10764611-10766584	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAFK	chr12:10766013-10766368	Hela-S3	cervix:	n/a	n/a
32	ATF3	chr12:10766008-10766358	HepG2	liver:	n/a	chr12:10766178-10766198 chr12:10766187-10766197 chr12:10766190-10766198 chr12:10766189-10766200 chr12:10766190-10766200 chr12:10766187-10766200 chr12:10766190-10766200 chr12:10766189-10766197 chr12:10766187-10766198 chr12:10766190-10766201 chr12:10766186-10766201 chr12:10766188-10766199 chr12:10766187-10766200 chr12:10766190-10766197 chr12:10766188-10766201 chr12:10766186-10766199 chr12:10766211-10766222
33	SRF	chr12:10765739-10766556	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr12:10765888-10766483	HCT-116	colon:	n/a	n/a
35	MAX	chr12:10765807-10766443	MCF-7	breast:	n/a	chr12:10766012-10766019
36	PML	chr12:10765318-10766763	GM12878	blood:	n/a	n/a
37	RUNX3	chr12:10765542-10766468	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:10765854-10766526	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr12:10765294-10766489	H1-hESC	embryonic stem cell:	n/a	n/a
40	RELA	chr12:10765982-10766739	GM18951	blood:	n/a	n/a
41	ELF1	chr12:10765962-10766435	A549	lung:	n/a	n/a
42	CREB1	chr12:10765696-10766529	GM12878	blood:	n/a	chr12:10766187-10766200
43	MXI1	chr12:10765558-10766654	HepG2	liver:	n/a	n/a
44	TBP	chr12:10765737-10767082	GM12878	blood:	n/a	n/a
45	TCF7L2	chr12:10765975-10766392	Hela-S3	cervix:	n/a	n/a
46	MYC	chr12:10765919-10766578	H1-hESC	embryonic stem cell:	n/a	chr12:10766012-10766019
47	POLR2A	chr12:10765867-10766963	ProgFib	skin:	n/a	n/a
48	CTCF	chr12:10766145-10766255	Spleen_OC	spleen:	n/a	n/a
49	MAX	chr12:10765904-10766443	HUVEC	blood vessel:	n/a	chr12:10766012-10766019
50	CHD1	chr12:10765323-10766713	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:10766141..10768697-chr12:10873862..10876046,3	MCF-7	breast:
2	chr1:202926894..202927819-chr12:10765477..10766262,2	Hela-S3	cervix:
3	chr12:10765964..10766694-chr20:47537656..47538701,3	Hela-S3	cervix:
4	chr12:10765822..10766366-chr2:55459151..55460039,2	HCT-116	colon:
5	chr1:16840506..16841094-chr12:10765990..10766908,2	Hela-S3	cervix:
6	chr12:10763668..10768180-chr12:10873034..10877438,4	K562	blood:
7	chr12:10764890..10767963-chr12:10824892..10828037,6	MCF-7	breast:
8	chr12:10757768..10761323-chr12:10763648..10767654,5	MCF-7	breast:
9	chr12:10367004..10369055-chr12:10765454..10767041,2	K562	blood:
10	chr12:10759828..10762348-chr12:10763400..10769792,9	K562	blood:
11	chr12:10765594..10766755-chr17:27046488..27047461,3	Hela-S3	cervix:
12	chr12:10763668..10768484-chr12:10873757..10876876,5	K562	blood:

Variant related genes	Relation type
MAGOHB	TF binding region
ENSG00000124198	Chromatin interaction
ENSG00000060140	Chromatin interaction
ENSG00000255958	Chromatin interaction
ENSG00000111196	Chromatin interaction
ENSG00000198242	Chromatin interaction
ENSG00000162994	Chromatin interaction
ENSG00000159346	Chromatin interaction
ENSG00000060138	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000143947	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1026443	0.82[AMR][1000 genomes]
rs1026445	1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs1026446	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs1052871	0.93[EUR][1000 genomes]
rs10772332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772333	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845182	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2011295	0.82[GIH][hapmap];0.82[AMR][1000 genomes]
rs2125088	0.91[MEX][hapmap]
rs2125089	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs2125090	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2198965	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2219383	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]
rs2243823	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs2417908	1.00[CHD][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap]
rs2682484	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs3463	0.93[CEU][hapmap];0.96[EUR][1000 genomes]
rs3947920	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4237930	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs4763208	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[MEX][hapmap];0.88[EUR][1000 genomes]
rs4763209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763210	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4763211	0.93[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4763562	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.82[MEX][hapmap];0.82[AMR][1000 genomes]
rs6488312	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6488313	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7308433	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7311796	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs7316237	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]
rs7965803	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7976279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs953248	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10772335	KLRC2	cis	cerebellum	SCAN
rs10772335	HEBP1	cis	cerebellum	SCAN
rs10772335	KLRC3	cis	cerebellum	SCAN
rs10772335	KLRC4	cis	parietal	SCAN

Chromatin state (count:127 , 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	chr12:10765000-10766600	Active TSS	Muscle Satellite Cultured Cells	--
15	chr12:10765000-10766800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr12:10765000-10766800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:10765000-10766800	Active TSS	Left Ventricle	heart
18	chr12:10765000-10766800	Active TSS	Rectal Smooth Muscle	rectum
19	chr12:10765000-10767000	Active TSS	Fetal Muscle Trunk	muscle
20	chr12:10765000-10767000	Active TSS	Fetal Stomach	stomach
21	chr12:10765000-10767000	Active TSS	NHDF-Ad	bronchial
22	chr12:10765000-10767200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr12:10765000-10767200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:10765000-10767200	Active TSS	Fetal Intestine Small	intestine
25	chr12:10765200-10766600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:10765200-10766800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:10765200-10766800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr12:10765200-10766800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:10765200-10766800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:10765200-10766800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:10765200-10766800	Active TSS	Ovary	ovary
32	chr12:10765200-10766800	Active TSS	HSMM	muscle
33	chr12:10765200-10767000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:10765200-10767000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:10765200-10767000	Active TSS	Psoas Muscle	Psoas
36	chr12:10765200-10767200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:10765200-10767400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:10765400-10766600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:10765400-10766600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:10765400-10766600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:10765400-10766600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:10765400-10766600	Active TSS	Gastric	stomach
43	chr12:10765400-10766600	Active TSS	Lung	lung
44	chr12:10765400-10766800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr12:10765400-10766800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:10765400-10766800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:10765400-10766800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:10765400-10766800	Active TSS	Esophagus	oesophagus
49	chr12:10765400-10766800	Active TSS	Placenta Amnion	Placenta Amnion
50	chr12:10765400-10766800	Active TSS	Hela-S3	cervix

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