Variant report

Variant	rs376091617
Chromosome Location	chr7:150715744-150715745
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr7:150715640-150716470	ECC-1	luminal epithelium:	n/a	n/a
2	E2F6	chr7:150715609-150715887	K562	blood:	n/a	n/a
3	YY1	chr7:150715598-150716215	ECC-1	luminal epithelium:	n/a	n/a
4	TEAD4	chr7:150715208-150716071	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr7:150715647-150715777	GM12892	blood:	n/a	n/a
6	CTCF	chr7:150715641-150715823	GM12891	blood:	n/a	n/a
7	MAX	chr7:150715028-150716275	HepG2	liver:	n/a	chr7:150715178-150715187
8	TCF12	chr7:150715323-150716355	ECC-1	luminal epithelium:	n/a	n/a
9	TCF3	chr7:150715650-150716079	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:150715160-150715794	SK-N-MC	brain:	n/a	n/a
11	USF1	chr7:150715533-150716270	ECC-1	luminal epithelium:	n/a	n/a
12	USF1	chr7:150715324-150716306	ECC-1	luminal epithelium:	n/a	n/a
13	MYC	chr7:150714883-150715797	K562	blood:	n/a	chr7:150715178-150715187
14	MAX	chr7:150715337-150715836	A549	lung:	n/a	n/a
15	YY1	chr7:150715250-150715747	GM12878	blood:	n/a	n/a
16	MAX	chr7:150715301-150716203	HUVEC	blood vessel:	n/a	n/a
17	MAX	chr7:150715116-150715932	MCF-7	breast:	n/a	chr7:150715178-150715187
18	NRF1	chr7:150715680-150716029	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr7:150714013-150715788	SK-N-SH	brain:	n/a	n/a
20	MAX	chr7:150715188-150715889	SK-N-SH	brain:	n/a	n/a
21	E2F6	chr7:150714876-150716679	H1-hESC	embryonic stem cell:	n/a	chr7:150716654-150716668 chr7:150716651-150716665
22	SIN3A	chr7:150715254-150716221	H1-hESC	embryonic stem cell:	n/a	n/a
23	GTF2F1	chr7:150715279-150716345	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr7:150714992-150715842	HCT-116	colon:	n/a	n/a
25	MAX	chr7:150714700-150716853	H1-hESC	embryonic stem cell:	n/a	chr7:150715178-150715187
26	MAX	chr7:150715181-150716035	A549	lung:	n/a	n/a
27	MYC	chr7:150715266-150716155	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr7:150714272-150716135	K562	blood:	n/a	chr7:150715178-150715187
29	CTCF	chr7:150714502-150715903	A549	lung:	n/a	chr7:150714633-150714646 chr7:150714664-150714673
30	YY1	chr7:150715244-150715787	K562	blood:	n/a	n/a
31	E2F6	chr7:150714725-150715884	K562	blood:	n/a	n/a
32	GTF2F1	chr7:150714905-150715762	K562	blood:	n/a	n/a
33	POLR2A	chr7:150713752-150715829	K562	blood:	n/a	n/a
34	HMGN3	chr7:150714855-150716160	K562	blood:	n/a	n/a
35	BHLHE40	chr7:150714691-150715773	K562	blood:	n/a	n/a
36	MAX	chr7:150715268-150716145	GM12878	blood:	n/a	n/a
37	POLR2A	chr7:150715340-150716286	H1-neurons	neurons:	n/a	n/a
38	BHLHE40	chr7:150715301-150715905	GM12878	blood:	n/a	n/a
39	MYC	chr7:150715711-150715797	MCF-7	breast:	n/a	n/a
40	MXI1	chr7:150714036-150715907	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr7:150714905-150715758	H1-hESC	embryonic stem cell:	n/a	n/a
42	ELF1	chr7:150714976-150715792	MCF-7	breast:	n/a	n/a
43	CTCF	chr7:150715681-150715878	Spleen_OC	spleen:	n/a	n/a
44	YY1	chr7:150715280-150715929	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUN	chr7:150714458-150715922	K562	blood:	n/a	n/a
46	BACH1	chr7:150715719-150715766	H1-hESC	embryonic stem cell:	n/a	n/a
47	E2F6	chr7:150715327-150715936	A549	lung:	n/a	n/a
48	CTCF	chr7:150713980-150716369	SK-N-SH	brain:	n/a	chr7:150714633-150714646 chr7:150714664-150714673
49	POLR2A	chr7:150714218-150715800	K562	blood:	n/a	n/a
50	GABPA	chr7:150715187-150716160	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150708483..150712186-chr7:150712647..150718557,9	MCF-7	breast:
2	chr7:150705619..150708029-chr7:150714028..150715967,2	MCF-7	breast:
3	chr7:150663039..150663716-chr7:150714870..150715859,2	K562	blood:
4	chr7:150659969..150660714-chr7:150715006..150715747,3	MCF-7	breast:
5	chr7:150713297..150718122-chr7:150719622..150723511,6	MCF-7	breast:
6	chr7:150686266..150688164-chr7:150713918..150716520,2	MCF-7	breast:
7	chr7:150713283..150718085-chr7:150719345..150725201,8	MCF-7	breast:
8	chr7:150705881..150707323-chr7:150714964..150716387,6	K562	blood:
9	chr7:150682825..150683700-chr7:150715137..150715857,2	K562	blood:

No data

Variant related genes	Relation type
ATG9B	TF binding region
ENSG00000164867	Chromatin interaction
ENSG00000181652	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	esv3374736	chr7:150714644-150717192	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	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
15	esv3373696	chr7:150714969-150716967	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3358756	chr7:150715069-150717867	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150711600-150716800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:150714200-150715800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
3	chr7:150714400-150715800	Flanking Active TSS	Dnd41	blood
4	chr7:150714400-150716000	Flanking Bivalent TSS/Enh	HepG2	liver
5	chr7:150714600-150715800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:150714600-150715800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr7:150714600-150715800	Flanking Active TSS	K562	blood
8	chr7:150714600-150716200	Bivalent Enhancer	Fetal Brain Male	brain
9	chr7:150714600-150716400	Enhancers	Lung	lung
10	chr7:150714600-150716600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr7:150714600-150716600	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr7:150714600-150717000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:150714800-150715800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:150714800-150715800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr7:150714800-150715800	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr7:150714800-150715800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr7:150714800-150715800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr7:150714800-150715800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr7:150714800-150715800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:150714800-150715800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:150714800-150715800	Enhancers	HUVEC	blood vessel
22	chr7:150714800-150716400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr7:150714800-150716400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
24	chr7:150715000-150715800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
25	chr7:150715000-150715800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
26	chr7:150715000-150715800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
27	chr7:150715000-150715800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr7:150715000-150715800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:150715000-150715800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:150715000-150715800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
31	chr7:150715000-150715800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
32	chr7:150715000-150715800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
33	chr7:150715000-150716000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:150715000-150716200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr7:150715000-150716200	Enhancers	Left Ventricle	heart
36	chr7:150715000-150716200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
37	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
38	chr7:150715000-150716400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr7:150715000-150716400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr7:150715000-150716400	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:150715000-150716400	Enhancers	Liver	Liver
45	chr7:150715000-150716400	Enhancers	Ovary	ovary
46	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
47	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	Thymus	Thymus
48	chr7:150715000-150716400	Flanking Bivalent TSS/Enh	HMEC	breast
49	chr7:150715000-150716600	Bivalent Enhancer	Fetal Lung	lung
50	chr7:150715000-150716800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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