Variant report

Variant	rs191254748
Chromosome Location	chr7:98971717-98971718
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	HA-E2F1	chr7:98971556-98972273	MCF-7	breast:	n/a	chr7:98971821-98971830
2	E2F6	chr7:98971679-98972431	K562	blood:	n/a	chr7:98971821-98971830 chr7:98972299-98972309 chr7:98972304-98972313 chr7:98972267-98972276
3	POLR2A	chr7:98971679-98973273	K562	blood:	n/a	n/a
4	PML	chr7:98971508-98973607	GM12878	blood:	n/a	n/a
5	HDAC2	chr7:98971546-98972630	MCF-7	breast:	n/a	chr7:98971719-98971733 chr7:98971859-98971878
6	YY1	chr7:98971687-98972756	GM12892	blood:	n/a	chr7:98972251-98972262 chr7:98971821-98971830 chr7:98972302-98972316 chr7:98972477-98972486 chr7:98972304-98972313 chr7:98972267-98972276 chr7:98972570-98972579
7	RFX5	chr7:98971618-98971815	GM12878	blood:	n/a	n/a
8	CREB1	chr7:98971679-98972568	A549	lung:	n/a	n/a
9	POLR2A	chr7:98971605-98973262	K562	blood:	n/a	n/a
10	MAX	chr7:98971680-98972581	GM12878	blood:	n/a	chr7:98972310-98972320
11	NR2F2	chr7:98971440-98971887	K562	blood:	n/a	n/a
12	TAF1	chr7:98971709-98972506	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAZ	chr7:98971659-98973416	K562	blood:	n/a	chr7:98972310-98972320 chr7:98973214-98973224 chr7:98972615-98972625
14	POLR2A	chr7:98971710-98973476	GM12891	blood:	n/a	n/a
15	ZNF263	chr7:98971684-98972069	HEK293-T-REx	kidney:	n/a	n/a
16	POLR2A	chr7:98971523-98973442	K562	blood:	n/a	n/a
17	POLR2A	chr7:98971574-98976430	GM12878	blood:	n/a	n/a
18	CREB1	chr7:98971549-98973391	HepG2	liver:	n/a	n/a
19	E2F6	chr7:98971618-98972609	A549	lung:	n/a	chr7:98972538-98972548 chr7:98971821-98971830 chr7:98972299-98972309 chr7:98972304-98972313 chr7:98972267-98972276 chr7:98972479-98972489
20	POLR2A	chr7:98971579-98974407	GM12892	blood:	n/a	n/a
21	TCF3	chr7:98971692-98972008	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:98971501-98972621	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr7:98971697-98973507	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:98971694-98973332	Gliobla	brain:	n/a	n/a
25	POLR2A	chr7:98971624-98973518	GM12891	blood:	n/a	n/a
26	MTA3	chr7:98971488-98973553	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:98971078-98973804	HepG2	liver:	n/a	n/a
28	CCNT2	chr7:98971669-98973383	K562	blood:	n/a	chr7:98972267-98972276 chr7:98972945-98972954 chr7:98971821-98971830 chr7:98972020-98972029 chr7:98972304-98972313
29	POLR2A	chr7:98971682-98973497	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:98971668-98973302	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr7:98971703-98973530	HL-60	blood:	n/a	n/a
32	JUND	chr7:98971712-98972608	A549	lung:	n/a	chr7:98972305-98972314
33	POLR2A	chr7:98971716-98972621	A549	lung:	n/a	n/a
34	SIN3AK20	chr7:98971695-98973297	K562	blood:	n/a	n/a
35	NR2F2	chr7:98971484-98972616	MCF-7	breast:	n/a	n/a
36	ELF1	chr7:98971650-98973412	MCF-7	breast:	n/a	chr7:98972304-98972316 chr7:98971976-98971988 chr7:98972316-98972329 chr7:98972944-98972956 chr7:98972898-98972909
37	E2F6	chr7:98971705-98971984	K562	blood:	n/a	chr7:98971821-98971830
38	IRF1	chr7:98971611-98972534	K562	blood:	n/a	chr7:98972263-98972277 chr7:98971820-98971834 chr7:98971711-98971721 chr7:98972300-98972314 chr7:98971707-98971721 chr7:98971711-98971725 chr7:98972228-98972242
39	ELF1	chr7:98971702-98973337	K562	blood:	n/a	chr7:98972304-98972316 chr7:98971976-98971988 chr7:98972316-98972329 chr7:98972944-98972956 chr7:98972898-98972909
40	MYC	chr7:98971615-98972667	A549	lung:	n/a	chr7:98972310-98972320 chr7:98972615-98972625
41	PBX3	chr7:98971643-98973498	SK-N-SH	brain:	n/a	n/a
42	CBX3	chr7:98971663-98972470	K562	blood:	n/a	n/a
43	SIN3AK20	chr7:98971668-98973309	PANC-1	pancreas:	n/a	n/a
44	MAZ	chr7:98971501-98973549	IMR90	lung:	n/a	chr7:98972310-98972320 chr7:98973214-98973224 chr7:98972615-98972625
45	TAF1	chr7:98971699-98971993	SK-N-SH	brain:	n/a	n/a
46	MYC	chr7:98971703-98973309	K562	blood:	n/a	chr7:98972310-98972320 chr7:98973214-98973224 chr7:98972615-98972625
47	POLR2A	chr7:98971620-98972607	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr7:98971634-98973567	HUVEC	blood vessel:	n/a	n/a
49	MAX	chr7:98971577-98973556	A549	lung:	n/a	chr7:98972310-98972320 chr7:98973214-98973224 chr7:98972615-98972625
50	MAZ	chr7:98971680-98973394	GM12878	blood:	n/a	chr7:98972310-98972320 chr7:98973214-98973224 chr7:98972615-98972625

No.	Distal block	Cell Line	Cell type
1	chr1:167189667..167190400-chr7:98971709..98972550,2	Hela-S3	cervix:
2	chr7:98921655..98927239-chr7:98969297..98973851,7	MCF-7	breast:
3	chr7:98971332..98973489-chr7:99034701..99036393,2	MCF-7	breast:
4	chr7:98970391..98972681-chr7:99033800..99036309,2	K562	blood:
5	chr7:98971053..98973782-chr7:99000134..99003212,3	MCF-7	breast:
6	chr7:98923500..98925484-chr7:98970656..98974432,3	K562	blood:
7	chr7:98923522..98925484-chr7:98970656..98973873,3	K562	blood:
8	chr7:98971244..98973231-chr7:98989224..98993180,5	MCF-7	breast:
9	chr7:98954568..98956787-chr7:98970778..98974586,3	K562	blood:
10	chr7:98970407..98975516-chr7:99002028..99009396,17	MCF-7	breast:
11	chr7:98970740..98974571-chr7:99004724..99008680,16	MCF-7	breast:
12	chr7:98970545..98974719-chr7:98992685..98998543,7	MCF-7	breast:
13	chr7:98970980..98974747-chr7:98986775..98992580,7	MCF-7	breast:
14	chr7:98970993..98974296-chr7:98982055..98984760,3	K562	blood:
15	chr7:98970906..98973809-chr7:99047334..99049746,3	K562	blood:
16	chr7:98628892..98630976-chr7:98971592..98973183,2	K562	blood:
17	chr7:98968876..98974378-chr7:99004810..99008269,11	K562	blood:
18	chr7:98966757..98974253-chr7:98988800..98995304,7	K562	blood:
19	chr7:98970707..98973711-chr7:99034539..99037806,4	MCF-7	breast:
20	chr7:98959822..98968172-chr7:98968902..98974586,14	MCF-7	breast:
21	chr7:98923206..98924865-chr7:98971213..98972924,2	MCF-7	breast:

Variant related genes	Relation type
ARPC1B	TF binding region
ENSG00000106245	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000106244	Chromatin interaction
ENSG00000272205	Chromatin interaction
ENSG00000241685	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000242687	Chromatin interaction
ENSG00000143190	Chromatin interaction
ENSG00000130429	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv3409473	chr7:98971041-98973589	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv3422095	chr7:98971441-98974189	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98965000-98971800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:98965000-98971800	Weak transcription	Brain Substantia Nigra	brain
3	chr7:98965200-98971800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:98966800-98971800	Weak transcription	Hela-S3	cervix
5	chr7:98967400-98971800	Weak transcription	Brain Germinal Matrix	brain
6	chr7:98968200-98971800	Weak transcription	HSMMtube	muscle
7	chr7:98970200-98971800	Flanking Active TSS	Fetal Thymus	thymus
8	chr7:98970400-98972400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:98970600-98971800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:98970600-98971800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr7:98970600-98971800	Weak transcription	Brain Angular Gyrus	brain
12	chr7:98970600-98971800	Weak transcription	Brain Anterior Caudate	brain
13	chr7:98970600-98971800	Weak transcription	Ovary	ovary
14	chr7:98970600-98971800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:98970600-98972000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:98970600-98972000	Enhancers	Placenta	Placenta
17	chr7:98970600-98972000	Weak transcription	Stomach Mucosa	stomach
18	chr7:98970800-98972000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:98970800-98973200	Weak transcription	Fetal Heart	heart
20	chr7:98970800-98977000	Weak transcription	Fetal Lung	lung
21	chr7:98971000-98971800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:98971000-98971800	Weak transcription	NHDF-Ad	bronchial
23	chr7:98971000-98971800	Weak transcription	NHLF	lung
24	chr7:98971000-98990400	Weak transcription	Fetal Kidney	kidney
25	chr7:98971400-98971800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr7:98971400-98971800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr7:98971400-98971800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr7:98971400-98971800	Flanking Active TSS	Thymus	Thymus
29	chr7:98971400-98971800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr7:98971400-98972000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr7:98971400-98972200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr7:98971400-98972200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:98971400-98972200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:98971400-98972200	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr7:98971400-98973200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr7:98971400-98973400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr7:98971400-98973400	Active TSS	H9 Cell Line	embryonic stem cell
38	chr7:98971400-98973400	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr7:98971400-98973400	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr7:98971400-98973400	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr7:98971400-98973400	Active TSS	HSMM	muscle
42	chr7:98971400-98974200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:98971600-98971800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr7:98971600-98971800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:98971600-98971800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:98971600-98971800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr7:98971600-98971800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:98971600-98971800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:98971600-98971800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:98971600-98971800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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