Variant report

Variant	rs572952166
Chromosome Location	chr7:102714724-102714725
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	CHD2	chr7:102714681-102715496	K562	blood:	n/a	n/a
2	MXI1	chr7:102714010-102717069	SK-N-SH	brain:	n/a	chr7:102715291-102715306 chr7:102715607-102715616 chr7:102715289-102715304
3	GABPA	chr7:102714472-102715760	SK-N-SH	brain:	n/a	chr7:102715307-102715316
4	MAX	chr7:102714600-102716292	ECC-1	luminal epithelium:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
5	MYC	chr7:102714520-102716139	MCF10A-Er-Src	breast:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
6	POLR2A	chr7:102714569-102716479	Hela-S3	cervix:	n/a	n/a
7	SRF	chr7:102714680-102715715	MCF-7	breast:	n/a	n/a
8	KAP1	chr7:102714666-102715144	U2OS	brain:	n/a	n/a
9	POLR2A	chr7:102714714-102716938	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr7:102714559-102716336	A549	lung:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
11	TCF7L2	chr7:102714604-102715776	Hela-S3	cervix:	n/a	n/a
12	STAT3	chr7:102714517-102715586	MCF10A-Er-Src	breast:	n/a	chr7:102715358-102715366 chr7:102715556-102715576 chr7:102715309-102715321
13	EGR1	chr7:102714627-102715766	MCF-7	breast:	n/a	chr7:102715307-102715317 chr7:102715527-102715538 chr7:102715332-102715342 chr7:102715532-102715539 chr7:102715454-102715464 chr7:102715525-102715540
14	POLR2A	chr7:102714637-102715898	U87	brain:	n/a	n/a
15	MAFK	chr7:102714583-102715548	Hela-S3	cervix:	n/a	n/a
16	SIN3AK20	chr7:102714388-102716493	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr7:102714646-102716353	K562	blood:	n/a	n/a
18	STAT3	chr7:102714549-102715566	MCF10A-Er-Src	breast:	n/a	chr7:102715358-102715366 chr7:102715309-102715321
19	BHLHE40	chr7:102714705-102716143	GM12878	blood:	n/a	chr7:102715272-102715288
20	MAX	chr7:102714657-102715763	H1-hESC	embryonic stem cell:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
21	MXI1	chr7:102714708-102716470	GM12878	blood:	n/a	chr7:102715291-102715306 chr7:102715607-102715616 chr7:102715289-102715304
22	ELF1	chr7:102714535-102716203	MCF-7	breast:	n/a	chr7:102715347-102715359 chr7:102715332-102715344
23	ZNF263	chr7:102714459-102715772	HEK293-T-REx	kidney:	n/a	chr7:102715084-102715105 chr7:102715032-102715041 chr7:102715082-102715091
24	RCOR1	chr7:102714299-102715643	Hela-S3	cervix:	n/a	n/a
25	STAT3	chr7:102714560-102715485	MCF10A-Er-Src	breast:	n/a	chr7:102715358-102715366 chr7:102715309-102715321
26	SIN3AK20	chr7:102714396-102716742	MCF-7	breast:	n/a	n/a
27	TCF12	chr7:102714433-102715719	A549	lung:	n/a	chr7:102715676-102715686
28	MAX	chr7:102714692-102715758	A549	lung:	n/a	chr7:102714918-102714925 chr7:102715433-102715442
29	STAT3	chr7:102714549-102715567	MCF10A-Er-Src	breast:	n/a	chr7:102715358-102715366 chr7:102715309-102715321
30	MAX	chr7:102714634-102716488	NB4	blood:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
31	POLR2A	chr7:102714677-102715774	PANC-1	pancreas:	n/a	n/a
32	CBX3	chr7:102714539-102715680	K562	blood:	n/a	n/a
33	MAZ	chr7:102714627-102716364	K562	blood:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
34	POLR2A	chr7:102714543-102716333	Raji	blood:	n/a	n/a
35	POLR2A	chr7:102714594-102715980	HUVEC	blood vessel:	n/a	n/a
36	E2F6	chr7:102714671-102716133	H1-hESC	embryonic stem cell:	n/a	chr7:102715349-102715361 chr7:102715307-102715316 chr7:102716003-102716013 chr7:102716008-102716017 chr7:102715709-102715719
37	RCOR1	chr7:102714693-102714891	K562	blood:	n/a	n/a
38	CHD2	chr7:102714661-102716385	Hela-S3	cervix:	n/a	n/a
39	MAX	chr7:102714553-102716424	Hela-S3	cervix:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
40	SMARCC1	chr7:102714452-102715588	Hela-S3	cervix:	n/a	n/a
41	TBP	chr7:102714685-102716043	K562	blood:	n/a	n/a
42	POLR2A	chr7:102714431-102714736	ProgFib	skin:	n/a	n/a
43	EBF1	chr7:102714687-102715068	GM12878	blood:	n/a	chr7:102714891-102714902
44	MAZ	chr7:102714445-102716300	IMR90	lung:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
45	MAX	chr7:102714467-102715731	SK-N-SH	brain:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
46	POLR2A	chr7:102714681-102716191	SK-N-SH	brain:	n/a	n/a
47	MAX	chr7:102714485-102715763	A549	lung:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
48	POLR2A	chr7:102714514-102716487	Hela-S3	cervix:	n/a	n/a
49	GATA1	chr7:102714604-102715614	PBDE	blood:	n/a	chr7:102714711-102714718 chr7:102715585-102715595
50	MAX	chr7:102714533-102716421	SK-N-SH	brain:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442

No.	Distal block	Cell Line	Cell type
1	chr7:102714716..102718005-chr7:102734624..102737524,3	MCF-7	breast:
2	chr6:26154807..26157784-chr7:102714627..102716921,2	MCF-7	breast:
3	chr7:102387955..102390990-chr7:102714406..102717094,4	MCF-7	breast:
4	chr7:102714451..102716302-chr7:102729810..102731727,2	MCF-7	breast:
5	chr7:102388357..102390801-chr7:102713734..102717426,3	K562	blood:
6	chr7:102389494..102391981-chr7:102714130..102716680,2	MCF-7	breast:
7	chr7:102714408..102716045-chr7:102987929..102989478,2	MCF-7	breast:
8	chr1:45987091..45988045-chr7:102714307..102715515,3	Hela-S3	cervix:
9	chr7:102713351..102719247-chr7:102725221..102729310,7	MCF-7	breast:
10	chr7:102714022..102717631-chr7:102788669..102792237,6	MCF-7	breast:
11	chr7:102714083..102716830-chr7:102726342..102727868,2	K562	blood:
12	chr7:102712172..102716042-chr7:102726342..102729326,4	K562	blood:
13	chr7:102713709..102715211-chr7:102789642..102791984,2	K562	blood:
14	chr7:102714071..102718258-chr7:102757961..102760938,3	K562	blood:

Variant related genes	Relation type
ARMC10	TF binding region
ENSG00000170632	Chromatin interaction
ENSG00000161048	Chromatin interaction
ENSG00000233025	Chromatin interaction
ENSG00000161057	Chromatin interaction
ENSG00000222011	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000235354	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102714000-102716400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:102714000-102716800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:102714000-102717000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:102714200-102714800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:102714200-102714800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:102714200-102714800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:102714200-102714800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:102714200-102714800	Flanking Active TSS	Fetal Lung	lung
9	chr7:102714200-102714800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr7:102714200-102714800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr7:102714200-102714800	Flanking Active TSS	NH-A	brain
12	chr7:102714200-102714800	Flanking Active TSS	Osteobl	bone
13	chr7:102714200-102715000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:102714200-102715000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:102714200-102715000	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr7:102714200-102715000	Flanking Active TSS	Hela-S3	cervix
17	chr7:102714200-102715000	Flanking Active TSS	HMEC	breast
18	chr7:102714200-102715000	Flanking Active TSS	HUVEC	blood vessel
19	chr7:102714200-102715000	Flanking Active TSS	K562	blood
20	chr7:102714200-102715000	Flanking Active TSS	NHEK	skin
21	chr7:102714200-102715200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr7:102714200-102715200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:102714200-102716200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:102714200-102716800	Active TSS	H1 Cell Line	embryonic stem cell
25	chr7:102714200-102717000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr7:102714200-102717000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:102714200-102717000	Active TSS	A549	lung
28	chr7:102714400-102714800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr7:102714400-102714800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr7:102714400-102714800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:102714400-102714800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:102714400-102714800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:102714400-102714800	Enhancers	Primary B cells from peripheral blood	blood
34	chr7:102714400-102714800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:102714400-102714800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:102714400-102714800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr7:102714400-102714800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr7:102714400-102714800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:102714400-102714800	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr7:102714400-102714800	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr7:102714400-102714800	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr7:102714400-102714800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr7:102714400-102714800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:102714400-102714800	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr7:102714400-102714800	Flanking Active TSS	Fetal Kidney	kidney
46	chr7:102714400-102714800	Flanking Active TSS	Fetal Stomach	stomach
47	chr7:102714400-102714800	Flanking Active TSS	Pancreas	Pancrea
48	chr7:102714400-102714800	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr7:102714400-102714800	Flanking Active TSS	Right Ventricle	heart
50	chr7:102714400-102714800	Flanking Active TSS	Stomach Mucosa	stomach

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