Variant report

Variant	rs148909379
Chromosome Location	chr7:150706014-150706015
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	CTCF	chr7:150705880-150706030	HPAF	blood vessel:	n/a	n/a
2	CTCF	chr7:150705834-150706146	K562	blood:	n/a	n/a
3	POLR2A	chr7:150705533-150706292	HCT-116	colon:	n/a	n/a
4	CTCF	chr7:150705920-150706070	HUVEC	blood vessel:	n/a	n/a
5	ZNF143	chr7:150705305-150706160	K562	blood:	n/a	n/a
6	MXI1	chr7:150705751-150706138	GM12878	blood:	n/a	n/a
7	CTCF	chr7:150705920-150706070	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr7:150705891-150706069	MCF-7	breast:	n/a	n/a
9	POLR2A	chr7:150705585-150706179	GM12878	blood:	n/a	n/a
10	ETS1	chr7:150705548-150706380	K562	blood:	n/a	chr7:150706265-150706276
11	CTCF	chr7:150705880-150706030	GM12873	blood:	n/a	n/a
12	CTCF	chr7:150705845-150706128	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr7:150705754-150706021	A549	lung:	n/a	n/a
14	CTCF	chr7:150705849-150706120	ProgFib	skin:	n/a	n/a
15	ZNF143	chr7:150705711-150706155	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr7:150705877-150706044	LNCaP	prostate:	n/a	n/a
17	POLR2A	chr7:150705199-150706158	K562	blood:	n/a	n/a
18	CHD2	chr7:150705249-150706411	K562	blood:	n/a	chr7:150706263-150706273
19	CTCF	chr7:150705920-150706070	AoAF	blood vessel:	n/a	n/a
20	RAD21	chr7:150705871-150706036	K562	blood:	n/a	n/a
21	CTCF	chr7:150705900-150706050	GM12801	blood:	n/a	n/a
22	ELF1	chr7:150705610-150706478	K562	blood:	n/a	chr7:150705893-150705905
23	GATA1	chr7:150703848-150708627	K562	blood:	n/a	chr7:150705784-150705791 chr7:150705782-150705792 chr7:150705781-150705793 chr7:150704454-150704464 chr7:150705782-150705791
24	TRIM28	chr7:150704928-150706437	K562	blood:	n/a	n/a
25	CTCF	chr7:150705849-150706092	A549	lung:	n/a	n/a
26	ELK1	chr7:150705289-150706268	K562	blood:	n/a	n/a
27	TBP	chr7:150705141-150706337	K562	blood:	n/a	n/a
28	CTCF	chr7:150705916-150706032	A549	lung:	n/a	n/a
29	THAP1	chr7:150705621-150706396	K562	blood:	n/a	n/a
30	CTCF	chr7:150705880-150706030	HEK293	kidney:	n/a	n/a
31	HMGN3	chr7:150704859-150706906	K562	blood:	n/a	chr7:150705783-150705790
32	CTCF	chr7:150705900-150706050	GM12874	blood:	n/a	n/a
33	MYC	chr7:150705761-150706410	K562	blood:	n/a	n/a
34	CTCF	chr7:150705880-150706030	GM12870	blood:	n/a	n/a
35	SP1	chr7:150705609-150706168	GM12878	blood:	n/a	n/a
36	USF2	chr7:150705685-150706032	H1-hESC	embryonic stem cell:	n/a	n/a
37	ESRRA	chr7:150705555-150706377	GM12878	blood:	n/a	n/a
38	RAD21	chr7:150705836-150706024	GM12878	blood:	n/a	n/a
39	CTCF	chr7:150705900-150706050	HepG2	liver:	n/a	n/a
40	RFX5	chr7:150705790-150706117	HepG2	liver:	n/a	n/a
41	CTCF	chr7:150705940-150706090	NHEK	skin:	n/a	n/a
42	JUND	chr7:150705064-150706680	K562	blood:	n/a	chr7:150706374-150706383
43	HDAC2	chr7:150705589-150706176	K562	blood:	n/a	chr7:150705783-150705792
44	POLR2A	chr7:150705234-150706228	HCT-116	colon:	n/a	n/a
45	RFX5	chr7:150705018-150706175	K562	blood:	n/a	chr7:150705403-150705412
46	CHD2	chr7:150705671-150706146	GM12878	blood:	n/a	n/a
47	POLR2A	chr7:150705748-150706264	HepG2	liver:	n/a	n/a
48	RFX5	chr7:150705606-150706030	GM12878	blood:	n/a	n/a
49	POLR2A	chr7:150705741-150706053	HepG2	liver:	n/a	n/a
50	YY1	chr7:150705723-150706136	GM12878	blood:	n/a	chr7:150705891-150705905

No.	Distal block	Cell Line	Cell type
1	chr7:150705481..150706887-chr7:150725454..150726471,3	K562	blood:
2	chr7:150705619..150708029-chr7:150714028..150715967,2	MCF-7	breast:
3	chr7:150703619..150706319-chr7:150708116..150709799,2	MCF-7	breast:
4	chr7:150705881..150707323-chr7:150714964..150716387,6	K562	blood:

Variant related genes	Relation type
NOS3	TF binding region
ENSG00000164867	Chromatin interaction
ENSG00000197150	Chromatin interaction
ENSG00000181652	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv889471	chr7:150700946-150751590	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	esv274999	chr7:150701010-150708089	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv889472	chr7:150703414-150707837	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv609003	chr7:150703915-150708035	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv609004	chr7:150703915-150708089	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv609005	chr7:150704400-150708035	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv609006	chr7:150704400-150708089	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv889473	chr7:150705413-150709571	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv609007	chr7:150705842-150708089	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv889474	chr7:150705842-150717153	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv609008	chr7:150705926-150708035	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	nsv609009	chr7:150705926-150708089	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150699800-150706600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:150701000-150706800	Weak transcription	A549	lung
3	chr7:150703600-150708200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr7:150704000-150706600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:150704200-150706400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:150704200-150707200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:150704400-150706200	Enhancers	Lung	lung
8	chr7:150704400-150707200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:150704600-150707000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:150704800-150706200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr7:150704800-150706400	Enhancers	Primary B cells from cord blood	blood
12	chr7:150704800-150708000	Enhancers	Primary hematopoietic stem cells	blood
13	chr7:150705000-150706200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr7:150705000-150706200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:150705000-150706200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr7:150705000-150706400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr7:150705000-150706800	Flanking Active TSS	Dnd41	blood
18	chr7:150705000-150711000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr7:150705200-150706200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr7:150705200-150706200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr7:150705200-150706800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:150705200-150708400	Enhancers	Fetal Heart	heart
23	chr7:150705400-150706200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:150705400-150706200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
25	chr7:150705400-150706200	Enhancers	Liver	Liver
26	chr7:150705400-150706200	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr7:150705400-150706600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:150705600-150706200	Enhancers	Brain Substantia Nigra	brain
29	chr7:150705600-150706200	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr7:150705600-150706200	Enhancers	HMEC	breast
31	chr7:150705600-150706200	Bivalent/Poised TSS	NHEK	skin
32	chr7:150705600-150706400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr7:150705600-150706400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:150705600-150708000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:150705800-150706200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr7:150705800-150706200	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr7:150705800-150706200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:150705800-150706200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:150705800-150706200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:150705800-150706200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:150705800-150706400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:150705800-150706400	Enhancers	HUVEC	blood vessel
43	chr7:150705800-150706600	Flanking Active TSS	HepG2	liver
44	chr7:150705800-150707400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:150705800-150707600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:150705800-150707600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:150705800-150708200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:150705800-150708400	Enhancers	Fetal Lung	lung
49	chr7:150705800-150710800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:150705800-150711000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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