Variant report

Variant	rs568262789
Chromosome Location	chr7:102714550-102714551
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	MXI1	chr7:102714010-102717069	SK-N-SH	brain:	n/a	chr7:102715291-102715306 chr7:102715607-102715616 chr7:102715289-102715304
2	GABPA	chr7:102714472-102715760	SK-N-SH	brain:	n/a	chr7:102715307-102715316
3	MYC	chr7:102714520-102716139	MCF10A-Er-Src	breast:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
4	STAT3	chr7:102714517-102715586	MCF10A-Er-Src	breast:	n/a	chr7:102715358-102715366 chr7:102715556-102715576 chr7:102715309-102715321
5	SIN3AK20	chr7:102714388-102716493	SK-N-SH	brain:	n/a	n/a
6	STAT3	chr7:102714549-102715566	MCF10A-Er-Src	breast:	n/a	chr7:102715358-102715366 chr7:102715309-102715321
7	ELF1	chr7:102714535-102716203	MCF-7	breast:	n/a	chr7:102715347-102715359 chr7:102715332-102715344
8	ZNF263	chr7:102714459-102715772	HEK293-T-REx	kidney:	n/a	chr7:102715084-102715105 chr7:102715032-102715041 chr7:102715082-102715091
9	RCOR1	chr7:102714299-102715643	Hela-S3	cervix:	n/a	n/a
10	SIN3AK20	chr7:102714396-102716742	MCF-7	breast:	n/a	n/a
11	TCF12	chr7:102714433-102715719	A549	lung:	n/a	chr7:102715676-102715686
12	STAT3	chr7:102714549-102715567	MCF10A-Er-Src	breast:	n/a	chr7:102715358-102715366 chr7:102715309-102715321
13	CBX3	chr7:102714539-102715680	K562	blood:	n/a	n/a
14	POLR2A	chr7:102714543-102716333	Raji	blood:	n/a	n/a
15	SMARCC1	chr7:102714452-102715588	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr7:102714431-102714736	ProgFib	skin:	n/a	n/a
17	MAZ	chr7:102714445-102716300	IMR90	lung:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
18	MAX	chr7:102714467-102715731	SK-N-SH	brain:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
19	MAX	chr7:102714485-102715763	A549	lung:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
20	POLR2A	chr7:102714514-102716487	Hela-S3	cervix:	n/a	n/a
21	MAX	chr7:102714533-102716421	SK-N-SH	brain:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
22	MYC	chr7:102714519-102715093	MCF10A-Er-Src	breast:	n/a	chr7:102714918-102714925 chr7:102714672-102714681
23	GABPA	chr7:102714312-102716239	SK-N-SH	brain:	n/a	chr7:102715883-102715892 chr7:102715307-102715316
24	GABPA	chr7:102714391-102716147	MCF-7	breast:	n/a	chr7:102715883-102715892 chr7:102715307-102715316
25	HCFC1	chr7:102714349-102716691	Hela-S3	cervix:	n/a	n/a
26	MXI1	chr7:102714156-102716580	IMR90	lung:	n/a	chr7:102715291-102715306 chr7:102715607-102715616 chr7:102715289-102715304
27	ZC3H11A	chr7:102714444-102714585	K562	blood:	n/a	n/a
28	TEAD4	chr7:102714521-102715690	K562	blood:	n/a	n/a
29	SIN3A	chr7:102714526-102716473	H1-hESC	embryonic stem cell:	n/a	chr7:102715313-102715326 chr7:102715699-102715710
30	ELF1	chr7:102714445-102716347	MCF-7	breast:	n/a	chr7:102715347-102715359 chr7:102715332-102715344
31	POLR2A	chr7:102714523-102714748	Gliobla	brain:	n/a	n/a
32	GTF2F1	chr7:102714465-102715563	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr7:102714531-102716435	Hela-S3	cervix:	n/a	n/a
34	RCOR1	chr7:102714536-102716441	K562	blood:	n/a	n/a
35	POLR2A	chr7:102714532-102716206	PANC-1	pancreas:	n/a	n/a
36	MAFK	chr7:102714406-102715581	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:102387955..102390990-chr7:102714406..102717094,4	MCF-7	breast:
2	chr7:102714451..102716302-chr7:102729810..102731727,2	MCF-7	breast:
3	chr7:102388357..102390801-chr7:102713734..102717426,3	K562	blood:
4	chr7:102389494..102391981-chr7:102714130..102716680,2	MCF-7	breast:
5	chr7:102714408..102716045-chr7:102987929..102989478,2	MCF-7	breast:
6	chr1:45987091..45988045-chr7:102714307..102715515,3	Hela-S3	cervix:
7	chr7:102713351..102719247-chr7:102725221..102729310,7	MCF-7	breast:
8	chr7:102714022..102717631-chr7:102788669..102792237,6	MCF-7	breast:
9	chr7:102714083..102716830-chr7:102726342..102727868,2	K562	blood:
10	chr7:102712172..102716042-chr7:102726342..102729326,4	K562	blood:
11	chr7:102713709..102715211-chr7:102789642..102791984,2	K562	blood:
12	chr7:102714071..102718258-chr7:102757961..102760938,3	K562	blood:

Variant related genes	Relation type
ARMC10	TF binding region
ENSG00000161048	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000161057	Chromatin interaction
ENSG00000235354	Chromatin interaction
ENSG00000170632	Chromatin interaction
ENSG00000233025	Chromatin interaction
ENSG00000222011	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv526764	chr7:102701826-102737251	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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	esv3338407	chr7:102714341-102716889	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102702200-102714600	Weak transcription	Ovary	ovary
2	chr7:102713800-102714600	Enhancers	Esophagus	oesophagus
3	chr7:102714000-102716400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:102714000-102716800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:102714000-102717000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr7:102714200-102714600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:102714200-102714600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:102714200-102714600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:102714200-102714600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:102714200-102714600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:102714200-102714600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:102714200-102714600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr7:102714200-102714600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:102714200-102714600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr7:102714200-102714600	Enhancers	Fetal Heart	heart
16	chr7:102714200-102714600	Enhancers	Gastric	stomach
17	chr7:102714200-102714600	Enhancers	Psoas Muscle	Psoas
18	chr7:102714200-102714600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr7:102714200-102714800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:102714200-102714800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:102714200-102714800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:102714200-102714800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:102714200-102714800	Flanking Active TSS	Fetal Lung	lung
24	chr7:102714200-102714800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:102714200-102714800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr7:102714200-102714800	Flanking Active TSS	NH-A	brain
27	chr7:102714200-102714800	Flanking Active TSS	Osteobl	bone
28	chr7:102714200-102715000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:102714200-102715000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:102714200-102715000	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr7:102714200-102715000	Flanking Active TSS	Hela-S3	cervix
32	chr7:102714200-102715000	Flanking Active TSS	HMEC	breast
33	chr7:102714200-102715000	Flanking Active TSS	HUVEC	blood vessel
34	chr7:102714200-102715000	Flanking Active TSS	K562	blood
35	chr7:102714200-102715000	Flanking Active TSS	NHEK	skin
36	chr7:102714200-102715200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr7:102714200-102715200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:102714200-102716200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:102714200-102716800	Active TSS	H1 Cell Line	embryonic stem cell
40	chr7:102714200-102717000	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr7:102714200-102717000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:102714200-102717000	Active TSS	A549	lung
43	chr7:102714400-102714600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:102714400-102714600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:102714400-102714600	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr7:102714400-102714600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:102714400-102714600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr7:102714400-102714600	Enhancers	Primary B cells from cord blood	blood
49	chr7:102714400-102714600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr7:102714400-102714600	Enhancers	Primary hematopoietic stem cells	blood

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