Variant report

Variant	rs11791943
Chromosome Location	chr9:103114876-103114877
allele	A/G
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	POLR2A	chr9:103114797-103115510	GM12891	blood:	n/a	n/a
2	MAX	chr9:103114579-103115695	Hela-S3	cervix:	n/a	chr9:103115231-103115241 chr9:103115246-103115257 chr9:103115247-103115256 chr9:103115248-103115257 chr9:103115306-103115316
3	MXI1	chr9:103112680-103116753	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr9:103114784-103115566	H1-neurons	neurons:	n/a	n/a
5	E2F4	chr9:103114592-103115512	K562	blood:	n/a	n/a
6	MAX	chr9:103114583-103115676	H1-hESC	embryonic stem cell:	n/a	chr9:103115231-103115241 chr9:103115246-103115257 chr9:103115247-103115256 chr9:103115248-103115257 chr9:103115306-103115316
7	CTBP2	chr9:103114563-103115496	H1-hESC	embryonic stem cell:	n/a	n/a
8	HEY1	chr9:103114822-103115670	HepG2	liver:	n/a	chr9:103115062-103115077
9	KAP1	chr9:103114772-103115895	HEK293	kidney:	n/a	n/a
10	POLR2A	chr9:103114492-103115592	GM18505	blood:	n/a	n/a
11	POLR2A	chr9:103114527-103115549	ECC-1	luminal epithelium:	n/a	n/a
12	EBF1	chr9:103114376-103114973	GM12878	blood:	n/a	n/a
13	MAZ	chr9:103114475-103115685	Hela-S3	cervix:	n/a	chr9:103115231-103115241 chr9:103115246-103115257 chr9:103115247-103115256 chr9:103115248-103115257 chr9:103115306-103115316
14	MXI1	chr9:103114181-103115780	IMR90	lung:	n/a	n/a
15	MAX	chr9:103114778-103115586	K562	blood:	n/a	chr9:103115231-103115241 chr9:103115246-103115257 chr9:103115247-103115256 chr9:103115248-103115257 chr9:103115306-103115316
16	EGR1	chr9:103114656-103115451	ECC-1	luminal epithelium:	n/a	chr9:103114867-103114877 chr9:103114867-103114880 chr9:103114868-103114879 chr9:103114868-103114878 chr9:103115224-103115238 chr9:103114862-103114884 chr9:103114868-103114877 chr9:103114867-103114880 chr9:103114867-103114880 chr9:103114867-103114880 chr9:103114866-103114880 chr9:103114864-103114878 chr9:103115306-103115316 chr9:103114868-103114878 chr9:103114866-103114881
17	MAX	chr9:103114449-103115640	NB4	blood:	n/a	chr9:103115231-103115241 chr9:103115246-103115257 chr9:103115247-103115256 chr9:103115248-103115257 chr9:103115306-103115316
18	RCOR1	chr9:103114573-103115572	Hela-S3	cervix:	n/a	n/a
19	MYC	chr9:103114091-103115824	A549	lung:	n/a	chr9:103115231-103115241 chr9:103115246-103115257 chr9:103115247-103115256 chr9:103115248-103115257 chr9:103115306-103115316
20	BHLHE40	chr9:103114434-103115754	GM12878	blood:	n/a	chr9:103115280-103115296 chr9:103115241-103115262 chr9:103115063-103115079 chr9:103115245-103115258 chr9:103115246-103115255
21	TAF1	chr9:103114107-103115708	H1-hESC	embryonic stem cell:	n/a	n/a
22	USF2	chr9:103114487-103115561	GM12878	blood:	n/a	chr9:103115280-103115296 chr9:103115241-103115262 chr9:103115063-103115079 chr9:103115246-103115257 chr9:103115245-103115258 chr9:103115246-103115255
23	POLR2A	chr9:103114808-103115664	U87	brain:	n/a	n/a
24	POLR2A	chr9:103114207-103115599	Hela-S3	cervix:	n/a	n/a
25	TBP	chr9:103114557-103115583	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF263	chr9:103114111-103115761	HEK293-T-REx	kidney:	n/a	n/a
27	POLR2A	chr9:103114511-103114899	HCT-116	colon:	n/a	n/a
28	POLR2A	chr9:103114532-103115716	GM15510	blood:	n/a	n/a
29	POLR2A	chr9:103114876-103115612	GM12891	blood:	n/a	n/a
30	POLR2A	chr9:103114761-103115559	K562	blood:	n/a	n/a
31	GATA2	chr9:103114550-103116157	SH-SY5Y	brain:	n/a	n/a
32	POLR2A	chr9:103114788-103115605	Gliobla	brain:	n/a	n/a
33	HEY1	chr9:103114522-103115597	K562	blood:	n/a	chr9:103115062-103115077
34	YY1	chr9:103114742-103115480	GM12892	blood:	n/a	chr9:103115064-103115078 chr9:103115261-103115272 chr9:103115068-103115079 chr9:103114914-103114923
35	BHLHE40	chr9:103114774-103115574	HepG2	liver:	n/a	chr9:103115280-103115296 chr9:103115241-103115262 chr9:103115063-103115079 chr9:103115245-103115258 chr9:103115246-103115255
36	MAX	chr9:103114634-103115852	HCT-116	colon:	n/a	chr9:103115231-103115241 chr9:103115246-103115257 chr9:103115247-103115256 chr9:103115248-103115257 chr9:103115306-103115316
37	PAX5	chr9:103114705-103115427	GM12892	blood:	n/a	n/a
38	EGR1	chr9:103114748-103114975	GM12878	blood:	n/a	chr9:103114867-103114877 chr9:103114867-103114880 chr9:103114868-103114879 chr9:103114868-103114878 chr9:103114862-103114884 chr9:103114868-103114877 chr9:103114867-103114880 chr9:103114867-103114880 chr9:103114867-103114880 chr9:103114866-103114880 chr9:103114864-103114878 chr9:103114868-103114878 chr9:103114866-103114881
39	USF2	chr9:103114603-103115613	H1-hESC	embryonic stem cell:	n/a	chr9:103115280-103115296 chr9:103115241-103115262 chr9:103115063-103115079 chr9:103115246-103115257 chr9:103115245-103115258 chr9:103115246-103115255
40	REST	chr9:103114694-103115700	H1-neurons	neurons:	n/a	chr9:103115225-103115238
41	POLR2A	chr9:103114388-103115664	GM12892	blood:	n/a	n/a
42	CHD1	chr9:103113693-103115757	IMR90	lung:	n/a	n/a
43	MAX	chr9:103114860-103115617	MCF-7	breast:	n/a	chr9:103115231-103115241 chr9:103115246-103115257 chr9:103115247-103115256 chr9:103115248-103115257 chr9:103115306-103115316
44	JUND	chr9:103114572-103115726	K562	blood:	n/a	chr9:103115282-103115291
45	CHD1	chr9:103114514-103115568	GM12878	blood:	n/a	n/a
46	UBTF	chr9:103114444-103115526	K562	blood:	n/a	n/a
47	POLR2A	chr9:103114838-103115536	A549	lung:	n/a	n/a
48	TAF1	chr9:103114784-103115576	K562	blood:	n/a	n/a
49	MXI1	chr9:103114607-103115808	GM12878	blood:	n/a	n/a
50	TBL1XR1	chr9:103114435-103115539	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:103108889..103112022-chr9:103112659..103116565,8	MCF-7	breast:
2	chr9:103113352..103115792-chr9:103234740..103236804,2	K562	blood:
3	chr9:103112743..103119519-chr9:103186928..103191502,9	MCF-7	breast:
4	chr9:103112020..103116853-chr9:103187928..103193300,12	MCF-7	breast:
5	chr9:102580870..102583441-chr9:103113195..103115519,2	K562	blood:
6	chr9:103113279..103116752-chr9:103187119..103190910,6	K562	blood:
7	chr5:112849001..112849959-chr9:103114723..103115456,2	Hela-S3	cervix:
8	chr9:103112440..103115986-chr9:103202100..103206037,4	K562	blood:
9	chr9:103113956..103115729-chr9:103202379..103204489,2	K562	blood:
10	chr9:103113751..103117482-chr9:103187755..103190910,6	K562	blood:

Variant related genes	Relation type
TEX10	TF binding region
ENSG00000136891	Chromatin interaction
ENSG00000066697	Chromatin interaction
ENSG00000237461	Chromatin interaction
ENSG00000251349	Chromatin interaction
ENSG00000047188	Chromatin interaction
ENSG00000241697	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10819755	0.81[EUR][1000 genomes]
rs10819757	0.88[EUR][1000 genomes]
rs10819758	1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10819760	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10819765	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10819766	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10819768	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10989041	0.85[EUR][1000 genomes]
rs10989046	0.85[EUR][1000 genomes]
rs10989047	1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10989050	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10989051	1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10989062	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10989063	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10989068	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10989069	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10989072	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10989074	1.00[CHB][hapmap]
rs10989077	1.00[ASN][1000 genomes]
rs11515449	0.84[EUR][1000 genomes]
rs11515542	0.84[EUR][1000 genomes]
rs11788648	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11790431	0.85[EUR][1000 genomes]
rs11791637	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11793726	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11794753	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11795004	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12002124	0.91[YRI][hapmap]
rs12003468	0.85[EUR][1000 genomes]
rs12005177	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12352336	1.00[ASN][1000 genomes]
rs12375859	1.00[ASN][1000 genomes]
rs12379480	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919024	0.85[EUR][1000 genomes]
rs3199998	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41274951	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41274961	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62579387	1.00[ASN][1000 genomes]
rs7028101	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7029342	1.00[CHB][hapmap];0.82[YRI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7036972	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7037122	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7037419	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7039994	0.85[EUR][1000 genomes]
rs7849019	1.00[CHB][hapmap];0.85[YRI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7866700	0.83[EUR][1000 genomes]
rs7873560	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7874036	0.88[EUR][1000 genomes];1.00[ASN][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	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103111800-103115000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:103112200-103115800	Active TSS	GM12878-XiMat	blood
3	chr9:103112400-103116000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr9:103112600-103116000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr9:103112800-103116000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr9:103112800-103116000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:103113200-103116000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:103113200-103116000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:103113400-103115400	Active TSS	Fetal Thymus	thymus
10	chr9:103113400-103115400	Active TSS	HMEC	breast
11	chr9:103113400-103115600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr9:103113400-103115600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr9:103113400-103115600	Active TSS	A549	lung
14	chr9:103113400-103115600	Active TSS	NHLF	lung
15	chr9:103113400-103116000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:103113400-103116000	Active TSS	NHDF-Ad	bronchial
17	chr9:103113400-103116400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr9:103113400-103116800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:103113600-103115400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr9:103113600-103115400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:103113600-103115400	Active TSS	NHEK	skin
22	chr9:103113600-103115600	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr9:103113600-103115600	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr9:103113600-103115600	Active TSS	K562	blood
25	chr9:103113600-103115800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr9:103113600-103116000	Active TSS	H1 Cell Line	embryonic stem cell
27	chr9:103113600-103116000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr9:103113600-103116200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:103113600-103116400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:103113800-103115200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr9:103113800-103115400	Active TSS	Fetal Muscle Leg	muscle
32	chr9:103113800-103115800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:103113800-103115800	Active TSS	Primary T cells fromperipheralblood	blood
34	chr9:103113800-103115800	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr9:103113800-103115800	Active TSS	Colonic Mucosa	Colon
36	chr9:103113800-103115800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr9:103113800-103115800	Active TSS	Psoas Muscle	Psoas
38	chr9:103113800-103115800	Active TSS	Right Atrium	heart
39	chr9:103113800-103115800	Active TSS	HSMMtube	muscle
40	chr9:103113800-103116000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:103113800-103116000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr9:103113800-103116000	Active TSS	Right Ventricle	heart
43	chr9:103113800-103116200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:103114000-103115400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:103114000-103115400	Active TSS	Fetal Intestine Small	intestine
46	chr9:103114000-103115400	Active TSS	Thymus	Thymus
47	chr9:103114000-103115400	Active TSS	Dnd41	blood
48	chr9:103114000-103115400	Active TSS	NH-A	brain
49	chr9:103114000-103115400	Active TSS	Osteobl	bone
50	chr9:103114000-103115600	Active TSS	iPS-15b Cell Line	embryonic stem cell

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