Variant report

Variant	rs560647247
Chromosome Location	chr7:6524149-6524150
allele	C/T
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	MAX	chr7:6522584-6524165	Hela-S3	cervix:	n/a	chr7:6523556-6523565
2	MAX	chr7:6523494-6524258	HCT-116	colon:	n/a	chr7:6523556-6523565
3	GTF3C2	chr7:6523931-6524455	Hela-S3	cervix:	n/a	n/a
4	STAT1	chr7:6523660-6524152	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:6522591-6524160	HUVEC	blood vessel:	n/a	n/a
6	HA-E2F1	chr7:6522568-6524203	MCF-7	breast:	n/a	chr7:6523881-6523890 chr7:6523500-6523510 chr7:6523862-6523872 chr7:6523856-6523866
7	POLR2A	chr7:6522492-6524230	K562	blood:	n/a	n/a
8	POLR2A	chr7:6523487-6524157	U87	brain:	n/a	n/a
9	POLR2A	chr7:6523485-6524194	PANC-1	pancreas:	n/a	n/a
10	MAX	chr7:6522629-6524167	NB4	blood:	n/a	chr7:6523556-6523565
11	TBL1XR1	chr7:6523733-6524192	K562	blood:	n/a	n/a
12	SP1	chr7:6523556-6524307	HCT-116	colon:	n/a	chr7:6523866-6523875 chr7:6523866-6523875 chr7:6523867-6523876 chr7:6523865-6523877 chr7:6523865-6523876 chr7:6523865-6523877 chr7:6523866-6523876 chr7:6523866-6523876
13	POLR2A	chr7:6523272-6524298	PFSK-1	brain:	n/a	n/a
14	ZNF143	chr7:6523555-6524228	GM12878	blood:	n/a	n/a
15	SP1	chr7:6523601-6524189	H1-hESC	embryonic stem cell:	n/a	chr7:6523866-6523875 chr7:6523866-6523875 chr7:6523867-6523876 chr7:6523865-6523877 chr7:6523865-6523876 chr7:6523865-6523877 chr7:6523866-6523876 chr7:6523866-6523876
16	MXI1	chr7:6521933-6524680	SK-N-SH	brain:	n/a	n/a
17	TBP	chr7:6523587-6524198	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr7:6523642-6524163	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr7:6523526-6524159	SK-N-SH	brain:	n/a	chr7:6523556-6523565
20	POLR2A	chr7:6523543-6524183	SK-N-SH	brain:	n/a	n/a
21	HDAC2	chr7:6523487-6524183	MCF-7	breast:	n/a	chr7:6524001-6524015 chr7:6524035-6524049
22	POLR2A	chr7:6522817-6524151	Hela-S3	cervix:	n/a	n/a
23	EP300	chr7:6523016-6524185	ECC-1	luminal epithelium:	n/a	chr7:6523106-6523115 chr7:6523500-6523516
24	GTF2F1	chr7:6523755-6524225	Hela-S3	cervix:	n/a	n/a
25	ELF1	chr7:6522701-6524171	GM12878	blood:	n/a	chr7:6522846-6522858
26	EBF1	chr7:6523785-6524196	GM12878	blood:	n/a	chr7:6524026-6524035 chr7:6524026-6524035 chr7:6524024-6524037 chr7:6524025-6524036
27	YY1	chr7:6523481-6524348	H1-hESC	embryonic stem cell:	n/a	chr7:6523491-6523505 chr7:6523774-6523786 chr7:6523494-6523508
28	HEY1	chr7:6523534-6524213	HepG2	liver:	n/a	chr7:6523847-6523862
29	CTBP2	chr7:6523706-6524272	H1-hESC	embryonic stem cell:	n/a	n/a
30	YY1	chr7:6522573-6524312	SK-N-SH	brain:	n/a	chr7:6523491-6523505 chr7:6523439-6523450 chr7:6523078-6523092 chr7:6523774-6523786 chr7:6523128-6523142 chr7:6523494-6523508
31	MAX	chr7:6523571-6524223	SK-N-SH	brain:	n/a	n/a
32	SRF	chr7:6523514-6524181	MCF-7	breast:	n/a	n/a
33	POLR2A	chr7:6523543-6524279	MCF10A-Er-Src	breast:	n/a	n/a
34	NFIC	chr7:6523517-6524180	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr7:6523488-6524184	PFSK-1	brain:	n/a	n/a
36	MAZ	chr7:6522604-6524288	IMR90	lung:	n/a	chr7:6523556-6523565
37	SP1	chr7:6523764-6524254	H1-hESC	embryonic stem cell:	n/a	chr7:6523866-6523875 chr7:6523866-6523875 chr7:6523867-6523876 chr7:6523865-6523877 chr7:6523865-6523876 chr7:6523865-6523877 chr7:6523866-6523876 chr7:6523866-6523876
38	ZNF143	chr7:6523550-6524219	K562	blood:	n/a	n/a
39	WRNIP1	chr7:6523810-6524188	GM12878	blood:	n/a	n/a
40	E2F6	chr7:6523572-6524230	H1-hESC	embryonic stem cell:	n/a	chr7:6523881-6523890 chr7:6523862-6523872 chr7:6523856-6523866
41	SIN3AK20	chr7:6522516-6524260	MCF-7	breast:	n/a	n/a
42	ZBTB7A	chr7:6523645-6524210	ECC-1	luminal epithelium:	n/a	chr7:6523880-6523889 chr7:6523870-6523877
43	YY1	chr7:6523442-6524185	H1-hESC	embryonic stem cell:	n/a	chr7:6523491-6523505 chr7:6523774-6523786 chr7:6523494-6523508
44	SP1	chr7:6523576-6524174	A549	lung:	n/a	chr7:6523866-6523875 chr7:6523866-6523875 chr7:6523867-6523876 chr7:6523865-6523877 chr7:6523865-6523876 chr7:6523865-6523877 chr7:6523866-6523876 chr7:6523866-6523876
45	REST	chr7:6522677-6524326	H1-neurons	neurons:	n/a	n/a
46	MXI1	chr7:6521875-6524294	IMR90	lung:	n/a	n/a
47	POLR2A	chr7:6523584-6524187	GM12891	blood:	n/a	n/a
48	POLR2A	chr7:6523407-6524149	PANC-1	pancreas:	n/a	n/a
49	NRF1	chr7:6523494-6524423	SK-N-SH	brain:	n/a	n/a
50	TCF12	chr7:6522947-6524171	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:6522385..6525546-chr7:6675389..6679461,5	MCF-7	breast:
2	chr7:6485398..6489202-chr7:6520855..6525273,5	MCF-7	breast:
3	chr7:6522590..6525464-chr7:6629667..6631342,2	K562	blood:
4	chr7:6521681..6526038-chr7:6526623..6531331,7	K562	blood:
5	chr7:6523333..6525416-chr7:6628158..6630053,2	K562	blood:
6	chr7:6509730..6517655-chr7:6520090..6524473,18	K562	blood:
7	chr7:6523102..6525727-chr7:6628447..6631086,2	MCF-7	breast:
8	chr7:6486201..6489628-chr7:6522463..6525039,4	MCF-7	breast:
9	chr7:6521171..6524635-chr7:6615181..6617344,3	K562	blood:
10	chr7:6142905..6144683-chr7:6522279..6524664,2	MCF-7	breast:

Variant related genes	Relation type
DAGLB	TF binding region
KDELR2	TF binding region
ENSG00000232581	Chromatin interaction
ENSG00000106346	Chromatin interaction
ENSG00000205903	Chromatin interaction
ENSG00000146576	Chromatin interaction
ENSG00000164535	Chromatin interaction
ENSG00000231359	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000136247	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	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription 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 miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv1026878	chr7:6490387-6592374	Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv887429	chr7:6520676-6659509	Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv887430	chr7:6520676-6668027	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
15	esv3420137	chr7:6522252-6524800	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
16	nsv966753	chr7:6523963-6530722	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6520800-6524600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:6521400-6524200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:6521400-6524200	Active TSS	Pancreas	Pancrea
4	chr7:6521600-6524600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:6521800-6524400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:6522000-6524200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:6522000-6524400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:6522000-6524400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:6522000-6524400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:6522000-6524400	Active TSS	Right Atrium	heart
11	chr7:6522200-6524200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:6522200-6524200	Active TSS	Right Ventricle	heart
13	chr7:6522200-6524200	Active TSS	Small Intestine	intestine
14	chr7:6522200-6524200	Active TSS	HSMMtube	muscle
15	chr7:6522200-6524200	Active TSS	NHDF-Ad	bronchial
16	chr7:6522200-6524400	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:6522200-6524400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr7:6522200-6524400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:6522200-6524400	Active TSS	NHLF	lung
20	chr7:6522200-6524600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:6522400-6524200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:6522400-6524200	Active TSS	H1 Cell Line	embryonic stem cell
23	chr7:6522400-6524200	Active TSS	Psoas Muscle	Psoas
24	chr7:6522400-6524200	Active TSS	NH-A	brain
25	chr7:6522400-6524400	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr7:6522400-6524400	Active TSS	Fetal Brain Female	brain
27	chr7:6522400-6524400	Active TSS	Fetal Kidney	kidney
28	chr7:6522400-6524600	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr7:6522400-6524600	Active TSS	GM12878-XiMat	blood
30	chr7:6522600-6524200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:6522600-6524200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:6522600-6524200	Active TSS	Colonic Mucosa	Colon
33	chr7:6522600-6524200	Active TSS	Left Ventricle	heart
34	chr7:6522600-6524200	Active TSS	Ovary	ovary
35	chr7:6522600-6524200	Active TSS	Rectal Smooth Muscle	rectum
36	chr7:6522600-6524400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr7:6522600-6524400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:6522600-6524400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:6522600-6524600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:6522600-6524600	Active TSS	A549	lung
41	chr7:6522800-6524200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:6522800-6524200	Active TSS	Brain Anterior Caudate	brain
43	chr7:6522800-6524200	Active TSS	Brain Germinal Matrix	brain
44	chr7:6522800-6524200	Active TSS	Brain Hippocampus Middle	brain
45	chr7:6522800-6524200	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr7:6522800-6524200	Active TSS	Brain Substantia Nigra	brain
47	chr7:6522800-6524400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr7:6522800-6524400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:6523000-6524200	Active TSS	Primary T cells from cord blood	blood
50	chr7:6523200-6524200	Active TSS	Stomach Smooth Muscle	stomach

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