Variant report

Variant	rs117845328
Chromosome Location	chr7:98971577-98971578
allele	G/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	HA-E2F1	chr7:98971556-98972273	MCF-7	breast:	n/a	chr7:98971821-98971830
2	PML	chr7:98971508-98973607	GM12878	blood:	n/a	n/a
3	HDAC2	chr7:98971546-98972630	MCF-7	breast:	n/a	chr7:98971719-98971733 chr7:98971859-98971878
4	NR2F2	chr7:98971440-98971887	K562	blood:	n/a	n/a
5	POLR2A	chr7:98971523-98973442	K562	blood:	n/a	n/a
6	POLR2A	chr7:98971574-98976430	GM12878	blood:	n/a	n/a
7	CREB1	chr7:98971549-98973391	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:98971501-98972621	PANC-1	pancreas:	n/a	n/a
9	MTA3	chr7:98971488-98973553	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:98971078-98973804	HepG2	liver:	n/a	n/a
11	NR2F2	chr7:98971484-98972616	MCF-7	breast:	n/a	n/a
12	MAZ	chr7:98971501-98973549	IMR90	lung:	n/a	chr7:98972310-98972320 chr7:98973214-98973224 chr7:98972615-98972625
13	MAX	chr7:98971577-98973556	A549	lung:	n/a	chr7:98972310-98972320 chr7:98973214-98973224 chr7:98972615-98972625
14	POLR2A	chr7:98971490-98973561	PANC-1	pancreas:	n/a	n/a
15	HEY1	chr7:98971506-98972530	HepG2	liver:	n/a	chr7:98972303-98972318 chr7:98972048-98972063 chr7:98972032-98972047
16	MAX	chr7:98971549-98972558	ECC-1	luminal epithelium:	n/a	chr7:98972310-98972320
17	SIN3AK20	chr7:98971394-98973496	MCF-7	breast:	n/a	n/a
18	MXI1	chr7:98971561-98973560	SK-N-SH	brain:	n/a	n/a
19	MAX	chr7:98971545-98973501	MCF-7	breast:	n/a	chr7:98972310-98972320 chr7:98973214-98973224 chr7:98972615-98972625
20	STAT5A	chr7:98971408-98971838	GM12878	blood:	n/a	chr7:98971607-98971619
21	POLR2A	chr7:98971478-98973455	K562	blood:	n/a	n/a
22	ZBTB7A	chr7:98971551-98973257	K562	blood:	n/a	chr7:98971628-98971639 chr7:98972672-98972681 chr7:98971888-98971899 chr7:98972619-98972628
23	ELF1	chr7:98971402-98973441	GM12878	blood:	n/a	chr7:98972304-98972316 chr7:98971976-98971988 chr7:98972316-98972329 chr7:98972944-98972956 chr7:98972898-98972909
24	ZNF143	chr7:98971577-98972181	K562	blood:	n/a	chr7:98972027-98972037 chr7:98972017-98972035

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

Variant related genes	Relation type
ARPC1B	TF binding region
ENSG00000160917	Chromatin interaction
ENSG00000241685	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000106244	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98924600-98971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:98935600-98971600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:98953800-98971600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:98955000-98971600	Weak transcription	Right Atrium	heart
5	chr7:98959400-98971600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:98961200-98971600	Weak transcription	Small Intestine	intestine
7	chr7:98962200-98971600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:98964600-98971600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:98964600-98971600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:98965000-98971600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:98965000-98971600	Weak transcription	HMEC	breast
12	chr7:98965000-98971800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:98965000-98971800	Weak transcription	Brain Substantia Nigra	brain
14	chr7:98965200-98971600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:98965200-98971600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:98965200-98971600	Weak transcription	Aorta	Aorta
17	chr7:98965200-98971600	Weak transcription	Esophagus	oesophagus
18	chr7:98965200-98971600	Weak transcription	Gastric	stomach
19	chr7:98965200-98971600	Weak transcription	HUVEC	blood vessel
20	chr7:98965200-98971800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:98965400-98971600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:98966600-98971600	Weak transcription	GM12878-XiMat	blood
23	chr7:98966800-98971600	Weak transcription	Dnd41	blood
24	chr7:98966800-98971800	Weak transcription	Hela-S3	cervix
25	chr7:98967200-98971600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:98967400-98971800	Weak transcription	Brain Germinal Matrix	brain
27	chr7:98967600-98971600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr7:98968200-98971800	Weak transcription	HSMMtube	muscle
29	chr7:98968400-98971600	Weak transcription	Fetal Stomach	stomach
30	chr7:98969000-98971600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:98969400-98971600	Enhancers	Fetal Muscle Trunk	muscle
32	chr7:98969600-98971600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:98970000-98971600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:98970200-98971600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:98970200-98971600	Enhancers	Liver	Liver
36	chr7:98970200-98971600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:98970200-98971600	Enhancers	Fetal Muscle Leg	muscle
38	chr7:98970200-98971600	Enhancers	Left Ventricle	heart
39	chr7:98970200-98971600	Enhancers	Spleen	Spleen
40	chr7:98970200-98971800	Flanking Active TSS	Fetal Thymus	thymus
41	chr7:98970400-98971600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:98970400-98971600	Enhancers	Lung	lung
43	chr7:98970400-98972400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:98970600-98971600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:98970600-98971600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:98970600-98971600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:98970600-98971600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:98970600-98971600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:98970600-98971600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:98970600-98971600	Enhancers	Colonic Mucosa	Colon

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