Variant report

Variant	rs576465940
Chromosome Location	chr7:66119218-66119219
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	MXI1	chr7:66118246-66120883	SK-N-SH	brain:	n/a	n/a
2	SETDB1	chr7:66118950-66120212	K562	blood:	n/a	n/a
3	MYC	chr7:66119090-66119941	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr7:66118821-66120669	IMR90	lung:	n/a	n/a
5	TCF12	chr7:66118801-66120388	A549	lung:	n/a	chr7:66120332-66120339
6	MYC	chr7:66119103-66120039	MCF-7	breast:	n/a	n/a
7	FOXP2	chr7:66119096-66119993	PFSK-1	brain:	n/a	n/a
8	TAF1	chr7:66118977-66120050	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr7:66118947-66120420	K562	blood:	n/a	chr7:66119500-66119509 chr7:66119529-66119540 chr7:66120079-66120094 chr7:66119693-66119702
10	UBTF	chr7:66119060-66120388	K562	blood:	n/a	n/a
11	USF1	chr7:66119192-66119573	HepG2	liver:	n/a	chr7:66119491-66119507 chr7:66119250-66119266
12	E2F4	chr7:66119057-66119725	GM12878	blood:	n/a	chr7:66119500-66119509 chr7:66119529-66119540 chr7:66119693-66119702
13	POLR2A	chr7:66118825-66120155	HUVEC	blood vessel:	n/a	n/a
14	SETDB1	chr7:66119216-66119729	U2OS	brain:	n/a	n/a
15	TAF1	chr7:66119187-66119713	PFSK-1	brain:	n/a	n/a
16	REST	chr7:66118978-66119801	MCF-7	breast:	n/a	chr7:66119756-66119769 chr7:66119270-66119288
17	POLR2A	chr7:66119057-66119906	A549	lung:	n/a	n/a
18	POLR2A	chr7:66118901-66119960	GM12891	blood:	n/a	n/a
19	PAX5	chr7:66119076-66119978	GM12892	blood:	n/a	chr7:66119173-66119192 chr7:66119961-66119970 chr7:66119169-66119196
20	PBX3	chr7:66119120-66119811	A549	lung:	n/a	n/a
21	USF2	chr7:66119033-66119630	K562	blood:	n/a	chr7:66119491-66119507 chr7:66119250-66119266
22	RAD21	chr7:66119047-66119631	SK-N-SH_RA	brain:	n/a	chr7:66119348-66119360
23	CTCF	chr7:66119140-66119290	AG04449	skin:	n/a	n/a
24	YY1	chr7:66119044-66119688	GM12878	blood:	n/a	chr7:66119491-66119505 chr7:66119500-66119509
25	EP300	chr7:66119019-66119708	GM12878	blood:	n/a	chr7:66119249-66119265 chr7:66119449-66119456
26	USF1	chr7:66119162-66119646	ECC-1	luminal epithelium:	n/a	chr7:66119491-66119507 chr7:66119250-66119266
27	ZKSCAN1	chr7:66119087-66119665	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr7:66119200-66119350	AG04450	lung:	n/a	n/a
29	REST	chr7:66119058-66119738	A549	lung:	n/a	chr7:66119270-66119288
30	CTCF	chr7:66119180-66119330	HepG2	liver:	n/a	n/a
31	POLR2A	chr7:66118946-66120489	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr7:66119200-66119350	NHEK	skin:	n/a	n/a
33	EBF1	chr7:66118981-66119523	GM12878	blood:	n/a	n/a
34	E2F6	chr7:66118997-66120046	H1-hESC	embryonic stem cell:	n/a	chr7:66119500-66119509 chr7:66119529-66119540 chr7:66119693-66119702
35	CTCF	chr7:66119160-66119310	SK-N-SH_RA	brain:	n/a	n/a
36	E2F4	chr7:66119076-66120032	K562	blood:	n/a	chr7:66119500-66119509 chr7:66119529-66119540 chr7:66119693-66119702
37	CREB1	chr7:66118955-66119886	GM12878	blood:	n/a	n/a
38	MXI1	chr7:66119044-66120292	Hela-S3	cervix:	n/a	n/a
39	MAFK	chr7:66119134-66119729	K562	blood:	n/a	n/a
40	USF1	chr7:66119093-66119661	K562	blood:	n/a	chr7:66119491-66119507 chr7:66119250-66119266
41	POLR2A	chr7:66118794-66119919	GM12892	blood:	n/a	n/a
42	JUND	chr7:66119091-66119825	MCF-7	breast:	n/a	chr7:66119665-66119674
43	POLR2A	chr7:66118938-66119958	GM12891	blood:	n/a	n/a
44	STAT5A	chr7:66118824-66119416	GM12878	blood:	n/a	n/a
45	CTCF	chr7:66119168-66119268	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr7:66119200-66119350	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr7:66119038-66119600	IMR90	lung:	n/a	n/a
48	POLR2A	chr7:66119035-66119996	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr7:66119100-66119250	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr7:66119200-66119310	Medullo	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:66118921..66119611-chr7:66204868..66205819,2	HCT-116	colon:
2	chr7:66118717..66119559-chr8:27168671..27169259,2	Hela-S3	cervix:
3	chr7:66057103..66058075-chr7:66118859..66119855,2	MCF-7	breast:
4	chr7:66118152..66121117-chr7:66145225..66147766,4	MCF-7	breast:
5	chr15:65477549..65478089-chr7:66119158..66119930,2	NB4	blood:
6	chr7:66092456..66095854-chr7:66117562..66119715,4	MCF-7	breast:
7	chr7:66055924..66057616-chr7:66118024..66120875,2	K562	blood:
8	chr7:66118570..66121104-chr7:66386256..66388029,2	K562	blood:
9	chr7:65540244..65541852-chr7:66118000..66119624,2	K562	blood:
10	chr20:10654441..10655070-chr7:66119072..66119600,2	NB4	blood:
11	chr7:66117717..66119604-chr7:66204829..66207389,2	K562	blood:
12	chr7:66117771..66119349-chr7:66203886..66206364,2	MCF-7	breast:
13	chr7:66055703..66058887-chr7:66117840..66121190,6	MCF-7	breast:
14	chr7:66118965..66120049-chr7:66146710..66147584,5	MCF-7	breast:
15	chr7:66116638..66119241-chr7:66120094..66122874,2	K562	blood:
16	chr7:66091844..66094640-chr7:66118336..66122170,5	MCF-7	breast:
17	chr7:66091898..66097382-chr7:66117985..66122507,10	K562	blood:

Variant related genes	Relation type
ENSG00000226824	TF binding region
ENSG00000243335	Chromatin interaction
ENSG00000126522	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000166855	Chromatin interaction
ENSG00000120899	Chromatin interaction
ENSG00000272831	Chromatin interaction
ENSG00000232559	Chromatin interaction
ENSG00000101384	Chromatin interaction
ENSG00000104228	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	esv2761151	chr7:66095738-66138285	Flanking Active TSS Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3496297	chr7:66099491-66136579	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv3496298	chr7:66099491-66136579	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv3486481	chr7:66101377-66137773	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv3486482	chr7:66101377-66137773	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv3509629	chr7:66101713-66137585	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
9	esv3509631	chr7:66101713-66137585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv967445	chr7:66112743-66133589	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv3441217	chr7:66118067-66120865	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr7:66118000-66121000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr7:66118200-66120800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:66118200-66120800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:66118200-66120800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:66118200-66120800	Active TSS	Fetal Intestine Large	intestine
6	chr7:66118200-66121000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:66118200-66121000	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:66118200-66121200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:66118200-66121200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:66118200-66121200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr7:66118200-66121200	Active TSS	NHDF-Ad	bronchial
12	chr7:66118400-66120400	Active TSS	Small Intestine	intestine
13	chr7:66118400-66120600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:66118400-66120600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr7:66118400-66120800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr7:66118400-66120800	Active TSS	Right Atrium	heart
17	chr7:66118400-66120800	Active TSS	GM12878-XiMat	blood
18	chr7:66118400-66120800	Active TSS	HMEC	breast
19	chr7:66118400-66121000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:66118400-66121000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr7:66118400-66121000	Active TSS	Brain Cingulate Gyrus	brain
22	chr7:66118400-66121000	Active TSS	Osteobl	bone
23	chr7:66118400-66121200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:66118400-66121400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:66118600-66119600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:66118600-66119600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:66118600-66119800	Active TSS	Placenta	Placenta
28	chr7:66118600-66120000	Active TSS	Primary T cells from cord blood	blood
29	chr7:66118600-66120000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:66118600-66120000	Active TSS	HepG2	liver
31	chr7:66118600-66120400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:66118600-66120400	Active TSS	HUVEC	blood vessel
33	chr7:66118600-66120600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:66118600-66120600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:66118600-66120600	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr7:66118600-66120600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:66118600-66120600	Active TSS	Liver	Liver
38	chr7:66118600-66120600	Active TSS	Brain Angular Gyrus	brain
39	chr7:66118600-66120600	Active TSS	Brain Substantia Nigra	brain
40	chr7:66118600-66120600	Active TSS	Colonic Mucosa	Colon
41	chr7:66118600-66120600	Active TSS	Duodenum Mucosa	Duodenum
42	chr7:66118600-66120600	Active TSS	Esophagus	oesophagus
43	chr7:66118600-66120600	Active TSS	Fetal Kidney	kidney
44	chr7:66118600-66120600	Active TSS	Psoas Muscle	Psoas
45	chr7:66118600-66120600	Active TSS	Stomach Mucosa	stomach
46	chr7:66118600-66120600	Active TSS	NH-A	brain
47	chr7:66118600-66120800	Active TSS	Brain Anterior Caudate	brain
48	chr7:66118600-66120800	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr7:66118600-66120800	Active TSS	Fetal Brain Female	brain
50	chr7:66118600-66120800	Active TSS	Skeletal Muscle Female	skeletal muscle

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