Variant report

Variant	rs547130670
Chromosome Location	chr7:65446070-65446071
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:154)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:154 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr7:65445825-65446170	K562	blood:	n/a	n/a
2	ELF1	chr7:65445531-65446171	K562	blood:	n/a	chr7:65446041-65446053
3	PAX5	chr7:65445735-65446201	GM12878	blood:	n/a	n/a
4	IRF1	chr7:65445857-65446127	K562	blood:	n/a	n/a
5	TBP	chr7:65445746-65446198	GM12878	blood:	n/a	n/a
6	MYC	chr7:65445837-65446255	K562	blood:	n/a	n/a
7	POLR2A	chr7:65445578-65446314	HL-60	blood:	n/a	n/a
8	POLR2A	chr7:65443622-65446365	GM12892	blood:	n/a	n/a
9	SP1	chr7:65445723-65446202	GM12878	blood:	n/a	n/a
10	SPI1	chr7:65445412-65446174	GM12878	blood:	n/a	n/a
11	NFIC	chr7:65445674-65446547	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:65445446-65446210	K562	blood:	n/a	n/a
13	TBP	chr7:65445714-65446241	K562	blood:	n/a	n/a
14	ATF1	chr7:65445769-65446159	K562	blood:	n/a	n/a
15	SP1	chr7:65445778-65446191	GM12878	blood:	n/a	n/a
16	GABPA	chr7:65445798-65446154	K562	blood:	n/a	n/a
17	POLR2A	chr7:65445834-65446226	K562	blood:	n/a	n/a
18	POLR2A	chr7:65445365-65446294	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr7:65445343-65446284	K562	blood:	n/a	n/a
20	POLR2A	chr7:65445798-65446162	Hela-S3	cervix:	n/a	n/a
21	EBF1	chr7:65445816-65446118	GM12878	blood:	n/a	n/a
22	MYC	chr7:65446062-65446090	K562	blood:	n/a	n/a
23	MXI1	chr7:65445795-65446249	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:65443935-65446390	GM12892	blood:	n/a	n/a
25	MXI1	chr7:65445949-65446149	K562	blood:	n/a	n/a
26	POLR2A	chr7:65445253-65446169	GM12878	blood:	n/a	n/a
27	ELF1	chr7:65445707-65446207	MCF-7	breast:	n/a	chr7:65446041-65446053
28	CEBPB	chr7:65445614-65446288	GM12878	blood:	n/a	n/a
29	TEAD4	chr7:65445487-65446290	K562	blood:	n/a	n/a
30	POLR2A	chr7:65445714-65446252	GM12892	blood:	n/a	n/a
31	BCLAF1	chr7:65445700-65446344	GM12878	blood:	n/a	n/a
32	EBF1	chr7:65445857-65446211	GM12878	blood:	n/a	n/a
33	MAX	chr7:65445519-65446277	K562	blood:	n/a	n/a
34	POLR2A	chr7:65445709-65446287	GM12891	blood:	n/a	n/a
35	POU2F2	chr7:65445915-65446277	GM12878	blood:	n/a	n/a
36	YY1	chr7:65445790-65446224	K562	blood:	n/a	n/a
37	USF2	chr7:65445750-65446106	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:65445493-65446255	K562	blood:	n/a	n/a
39	POLR2A	chr7:65445855-65446222	GM15510	blood:	n/a	n/a
40	BHLHE40	chr7:65445743-65446248	GM12878	blood:	n/a	n/a
41	PAX5	chr7:65445805-65446088	GM12878	blood:	n/a	n/a
42	RUNX3	chr7:65445662-65446321	GM12878	blood:	n/a	n/a
43	POLR2A	chr7:65445849-65446167	GM12891	blood:	n/a	n/a
44	ELF1	chr7:65445712-65446228	GM12878	blood:	n/a	chr7:65446041-65446053
45	EP300	chr7:65445793-65446157	GM12878	blood:	n/a	n/a
46	MAZ	chr7:65445781-65446196	GM12878	blood:	n/a	n/a
47	CHD2	chr7:65445752-65446128	GM12878	blood:	n/a	n/a
48	NFATC1	chr7:65445687-65446269	GM12878	blood:	n/a	n/a
49	HDAC2	chr7:65445855-65446192	K562	blood:	n/a	n/a
50	CTCF	chr7:65445978-65446103	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:65337864..65339398-chr7:65445758..65448693,2	K562	blood:
2	chr7:65431377..65432977-chr7:65445764..65448122,2	K562	blood:
3	chr7:65438802..65441733-chr7:65444240..65447107,3	MCF-7	breast:
4	chr7:65445709..65448649-chr7:65579782..65581390,2	K562	blood:

No data

Variant related genes	Relation type
GUSB	TF binding region
ENSG00000169919	Chromatin interaction
ENSG00000241258	Chromatin interaction
ENSG00000196715	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1020337	chr7:65371505-65449654	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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
4	nsv1025494	chr7:65402301-65515606	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538906	chr7:65402301-65515606	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv888321	chr7:65408904-65449541	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv9823	chr7:65413362-65468020	Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3426468	chr7:65413488-65462982	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3433491	chr7:65414034-65463477	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv1028971	chr7:65414064-65457437	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv888322	chr7:65415647-65466565	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv538907	chr7:65417400-65456089	Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv888323	chr7:65418355-65461080	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv888324	chr7:65418876-65466565	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	nsv967489	chr7:65445874-65469129	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65439600-65446200	Weak transcription	Psoas Muscle	Psoas
2	chr7:65444400-65446400	Weak transcription	Aorta	Aorta
3	chr7:65445200-65446200	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:65445200-65446600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr7:65445400-65446200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:65445400-65446200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:65445400-65446200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr7:65445400-65446200	Flanking Active TSS	Colon Smooth Muscle	Colon
9	chr7:65445400-65446200	Enhancers	Fetal Brain Male	brain
10	chr7:65445400-65446200	Transcr. at gene 5' and 3'	Thymus	Thymus
11	chr7:65445400-65446200	Flanking Active TSS	Hela-S3	cervix
12	chr7:65445400-65446400	Flanking Active TSS	Liver	Liver
13	chr7:65445400-65446400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr7:65445400-65446400	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr7:65445400-65446400	Flanking Active TSS	HepG2	liver
16	chr7:65445400-65446600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr7:65445400-65446600	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr7:65445400-65446600	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr7:65445400-65446800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr7:65445400-65446800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr7:65445400-65446800	Enhancers	Fetal Heart	heart
22	chr7:65445400-65447600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr7:65445600-65446200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
24	chr7:65445600-65446200	Transcr. at gene 5' and 3'	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:65445600-65446200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:65445600-65446200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:65445600-65446200	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr7:65445600-65446200	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr7:65445600-65446200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:65445600-65446200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr7:65445600-65446200	Flanking Active TSS	HMEC	breast
32	chr7:65445600-65446200	Flanking Active TSS	HUVEC	blood vessel
33	chr7:65445600-65446400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:65445600-65446400	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr7:65445600-65446400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr7:65445600-65446400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr7:65445600-65446400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr7:65445600-65446400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr7:65445600-65446400	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr7:65445600-65446400	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr7:65445600-65446400	Enhancers	Small Intestine	intestine
42	chr7:65445600-65446400	Flanking Active TSS	Stomach Mucosa	stomach
43	chr7:65445600-65446600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:65445600-65446600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:65445600-65446600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:65445600-65446600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:65445600-65446600	Flanking Active TSS	Fetal Thymus	thymus
48	chr7:65445600-65446800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr7:65445600-65446800	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr7:65445600-65447400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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