Variant report

Variant	rs13240966
Chromosome Location	chr7:150758818-150758819
allele	C/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	chr7:150754493-150760694	K562	blood:	n/a	n/a
2	POLR2A	chr7:150754758-150760600	K562	blood:	n/a	n/a
3	POLR2A	chr7:150758461-150759745	K562	blood:	n/a	n/a
4	MAX	chr7:150757707-150759926	A549	lung:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561 chr7:150758470-150758480
5	ZBTB7A	chr7:150756227-150760413	K562	blood:	n/a	chr7:150757231-150757239 chr7:150758070-150758079 chr7:150757085-150757094
6	MAX	chr7:150758741-150760286	K562	blood:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561
7	MYC	chr7:150757270-150758942	A549	lung:	n/a	chr7:150758470-150758480
8	MXI1	chr7:150754410-150760844	IMR90	lung:	n/a	chr7:150759550-150759559 chr7:150759552-150759561 chr7:150760584-150760593 chr7:150759552-150759561
9	POLR2A	chr7:150758664-150759014	HCT-116	colon:	n/a	n/a
10	MYC	chr7:150758762-150760626	K562	blood:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561
11	YY1	chr7:150758356-150759141	K562	blood:	n/a	n/a
12	POLR2A	chr7:150758344-150760685	K562	blood:	n/a	n/a
13	HEY1	chr7:150758711-150759524	K562	blood:	n/a	n/a
14	POLR2A	chr7:150754806-150760313	K562	blood:	n/a	n/a
15	POLR2A	chr7:150754523-150760219	SK-N-MC	brain:	n/a	n/a
16	ZBTB7A	chr7:150758305-150758838	K562	blood:	n/a	n/a
17	YY1	chr7:150758809-150759194	A549	lung:	n/a	n/a
18	POLR2A	chr7:150758675-150759804	K562	blood:	n/a	n/a
19	UBTF	chr7:150758356-150760596	K562	blood:	n/a	n/a
20	NR2F2	chr7:150758136-150760632	K562	blood:	n/a	n/a
21	PML	chr7:150758634-150760303	K562	blood:	n/a	chr7:150758703-150758711
22	GABPA	chr7:150758709-150760222	K562	blood:	n/a	n/a
23	SMARCB1	chr7:150758519-150760725	Hela-S3	cervix:	n/a	n/a
24	SIN3AK20	chr7:150758615-150759830	A549	lung:	n/a	n/a
25	E2F6	chr7:150758588-150759228	K562	blood:	n/a	n/a
26	REST	chr7:150758580-150759086	K562	blood:	n/a	n/a
27	POLR2A	chr7:150754662-150759873	PANC-1	pancreas:	n/a	n/a
28	TBP	chr7:150758565-150760241	K562	blood:	n/a	n/a
29	PBX3	chr7:150757408-150758847	A549	lung:	n/a	chr7:150758180-150758189
30	MYC	chr7:150758439-150760684	K562	blood:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561 chr7:150758470-150758480
31	POLR2A	chr7:150754761-150760616	K562	blood:	n/a	n/a
32	GATA3	chr7:150757433-150760081	A549	lung:	n/a	n/a
33	BCL3	chr7:150757569-150758996	A549	lung:	n/a	n/a
34	EP300	chr7:150757124-150759970	A549	lung:	n/a	chr7:150757124-150757133 chr7:150757747-150757763
35	POLR2A	chr7:150755905-150760372	K562	blood:	n/a	n/a
36	SIN3AK20	chr7:150758625-150760725	K562	blood:	n/a	n/a
37	JUND	chr7:150758778-150758869	K562	blood:	n/a	n/a
38	RCOR1	chr7:150758577-150759812	K562	blood:	n/a	n/a
39	MAX	chr7:150757588-150760224	A549	lung:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561 chr7:150758470-150758480
40	MYC	chr7:150758452-150760236	K562	blood:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561 chr7:150758470-150758480
41	MAX	chr7:150757378-150760760	HCT-116	colon:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561 chr7:150758470-150758480
42	MAZ	chr7:150753782-150759140	IMR90	lung:	n/a	chr7:150756001-150756008 chr7:150755999-150756012 chr7:150755999-150756012 chr7:150757089-150757099 chr7:150758470-150758480 chr7:150755996-150756015 chr7:150756003-150756010
43	TAF1	chr7:150757407-150760185	A549	lung:	n/a	n/a
44	ETS1	chr7:150758652-150760275	A549	lung:	n/a	chr7:150759533-150759546 chr7:150759690-150759701
45	POLR2A	chr7:150758595-150760262	HepG2	liver:	n/a	n/a
46	POLR2A	chr7:150756164-150760241	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr7:150756056-150760840	K562	blood:	n/a	n/a
48	TBL1XR1	chr7:150758459-150759886	K562	blood:	n/a	n/a
49	RCOR1	chr7:150758743-150759757	K562	blood:	n/a	n/a
50	MAX	chr7:150754514-150760795	K562	blood:	n/a	chr7:150759551-150759560 chr7:150759519-150759526 chr7:150756001-150756008 chr7:150755999-150756012 chr7:150755999-150756012 chr7:150759549-150759558 chr7:150759518-150759527 chr7:150759551-150759560 chr7:150759517-150759527 chr7:150757089-150757099 chr7:150759551-150759560 chr7:150759659-150759668 chr7:150759658-150759669 chr7:150759551-150759561 chr7:150758470-150758480 chr7:150755996-150756015 chr7:150756003-150756010

No.	Distal block	Cell Line	Cell type
1	chr3:64252018..64254235-chr7:150757748..150760027,2	MCF-7	breast:
2	chr7:150756584..150759484-chr7:151213825..151215971,2	MCF-7	breast:
3	chr7:150066102..150068231-chr7:150757822..150759698,2	MCF-7	breast:

Variant related genes	Relation type
CDK5	TF binding region
SLC4A2	TF binding region
ENSG00000214022	Chromatin interaction
ENSG00000106615	Chromatin interaction
ENSG00000163637	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1050702	0.99[EUR][1000 genomes]
rs10952299	0.82[EUR][1000 genomes]
rs11766855	0.87[ASN][1000 genomes]
rs11770520	0.80[EUR][1000 genomes]
rs11977275	0.85[EUR][1000 genomes]
rs12703112	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13246833	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34104727	0.87[ASN][1000 genomes]
rs34308016	0.87[ASN][1000 genomes]
rs3793337	0.96[EUR][1000 genomes]
rs4236428	0.87[ASN][1000 genomes]
rs4725988	0.87[ASN][1000 genomes]
rs4725992	0.87[ASN][1000 genomes]
rs4725993	0.87[ASN][1000 genomes]
rs6957724	0.87[ASN][1000 genomes]
rs6970547	0.87[ASN][1000 genomes]
rs6970773	0.87[ASN][1000 genomes]
rs891510	0.87[ASN][1000 genomes]
rs9278	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv526410	chr7:150714812-150775306	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
10	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
11	nsv524928	chr7:150731698-150766799	Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
13	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
14	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
15	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription 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	45 gene(s)	inside rSNPs	diseases
16	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription 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	46 gene(s)	inside rSNPs	diseases
17	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
18	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
19	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
20	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 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	chr7:150756400-150759400	Enhancers	Fetal Brain Male	brain
2	chr7:150757200-150759000	Flanking Active TSS	Brain Germinal Matrix	brain
3	chr7:150757400-150759000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr7:150757400-150759000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:150757400-150759200	Flanking Active TSS	K562	blood
6	chr7:150757400-150760000	Flanking Active TSS	Rectal Smooth Muscle	rectum
7	chr7:150757400-150760200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:150757400-150760200	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr7:150757400-150760200	Flanking Active TSS	NH-A	brain
10	chr7:150757400-150760400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:150757600-150759000	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:150757600-150759000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr7:150757600-150759200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:150757600-150759400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr7:150757600-150759400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr7:150757600-150759800	Flanking Active TSS	Fetal Heart	heart
17	chr7:150757600-150760200	Flanking Active TSS	HMEC	breast
18	chr7:150757800-150759000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr7:150757800-150759000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr7:150757800-150759000	Enhancers	Esophagus	oesophagus
21	chr7:150757800-150759000	Enhancers	Spleen	Spleen
22	chr7:150757800-150759200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:150757800-150759200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr7:150757800-150759200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr7:150757800-150759400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:150757800-150759400	Flanking Active TSS	HepG2	liver
27	chr7:150757800-150759600	Enhancers	Stomach Mucosa	stomach
28	chr7:150757800-150760200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:150757800-150760800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:150757800-150760800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr7:150757800-150761600	Weak transcription	Aorta	Aorta
32	chr7:150758000-150759000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr7:150758000-150759200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:150758000-150759200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr7:150758000-150759200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr7:150758000-150759200	Enhancers	Liver	Liver
37	chr7:150758000-150759200	Enhancers	Lung	lung
38	chr7:150758000-150759200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr7:150758000-150759400	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:150758000-150759400	Flanking Active TSS	Hela-S3	cervix
41	chr7:150758000-150759600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:150758000-150759600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr7:150758000-150759600	Enhancers	Right Atrium	heart
44	chr7:150758000-150760000	Enhancers	Ovary	ovary
45	chr7:150758000-150760800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:150758000-150760800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:150758000-150760800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr7:150758200-150759000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:150758200-150759000	Enhancers	Brain Anterior Caudate	brain
50	chr7:150758200-150759000	Enhancers	Brain Cingulate Gyrus	brain

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