Variant report

Variant	rs571165030
Chromosome Location	chr7:98972341-98972342
allele	C/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	TBP	chr7:98971826-98972395	HepG2	liver:	n/a	n/a
2	GABPA	chr7:98971957-98973422	K562	blood:	n/a	chr7:98972622-98972631 chr7:98972675-98972684 chr7:98972267-98972276 chr7:98972620-98972629 chr7:98972673-98972682 chr7:98972304-98972313 chr7:98972311-98972320
3	SIN3A	chr7:98971769-98972422	GM12878	blood:	n/a	chr7:98971956-98971967 chr7:98971865-98971878 chr7:98971776-98971789
4	EGR1	chr7:98971770-98972743	K562	blood:	n/a	chr7:98972455-98972465 chr7:98971821-98971831 chr7:98972304-98972314 chr7:98972411-98972424 chr7:98972268-98972281 chr7:98972670-98972680 chr7:98972676-98972689 chr7:98972303-98972313 chr7:98972265-98972279 chr7:98972676-98972689 chr7:98972615-98972628 chr7:98972455-98972468 chr7:98972617-98972627 chr7:98972305-98972318 chr7:98972679-98972688 chr7:98972454-98972469
5	E2F6	chr7:98971679-98972431	K562	blood:	n/a	chr7:98971821-98971830 chr7:98972299-98972309 chr7:98972304-98972313 chr7:98972267-98972276
6	POLR2A	chr7:98971679-98973273	K562	blood:	n/a	n/a
7	POLR2A	chr7:98972088-98973354	PFSK-1	brain:	n/a	n/a
8	RXRA	chr7:98972288-98972444	GM12878	blood:	n/a	n/a
9	E2F4	chr7:98971720-98972467	K562	blood:	n/a	chr7:98971821-98971830 chr7:98972299-98972309 chr7:98972304-98972313 chr7:98972267-98972276
10	YY1	chr7:98971735-98972520	GM12878	blood:	n/a	chr7:98972251-98972262 chr7:98971821-98971830 chr7:98972302-98972316 chr7:98972477-98972486 chr7:98972304-98972313 chr7:98972267-98972276
11	POLR2A	chr7:98972096-98972536	HepG2	liver:	n/a	n/a
12	ZBTB33	chr7:98971943-98972551	SK-N-SH	brain:	n/a	n/a
13	TFAP2C	chr7:98971997-98973477	Hela-S3	cervix:	n/a	n/a
14	PML	chr7:98971508-98973607	GM12878	blood:	n/a	n/a
15	HDAC2	chr7:98971546-98972630	MCF-7	breast:	n/a	chr7:98971719-98971733 chr7:98971859-98971878
16	MAX	chr7:98971764-98972448	A549	lung:	n/a	chr7:98972310-98972320
17	SIN3AK20	chr7:98972208-98972439	PFSK-1	brain:	n/a	n/a
18	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
19	SIN3AK20	chr7:98971767-98972530	H1-hESC	embryonic stem cell:	n/a	n/a
20	PAX5	chr7:98972246-98972427	GM12878	blood:	n/a	n/a
21	CREB1	chr7:98971679-98972568	A549	lung:	n/a	n/a
22	POLR2A	chr7:98971605-98973262	K562	blood:	n/a	n/a
23	MAX	chr7:98971680-98972581	GM12878	blood:	n/a	chr7:98972310-98972320
24	HEY1	chr7:98971780-98972803	K562	blood:	n/a	chr7:98972303-98972318 chr7:98972048-98972063 chr7:98972032-98972047
25	GABPA	chr7:98972147-98973407	MCF-7	breast:	n/a	chr7:98972622-98972631 chr7:98972675-98972684 chr7:98972267-98972276 chr7:98972620-98972629 chr7:98972673-98972682 chr7:98972304-98972313 chr7:98972311-98972320
26	FOXM1	chr7:98971859-98972640	GM12878	blood:	n/a	n/a
27	TAF1	chr7:98971709-98972506	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAZ	chr7:98971659-98973416	K562	blood:	n/a	chr7:98972310-98972320 chr7:98973214-98973224 chr7:98972615-98972625
29	POLR2A	chr7:98972261-98972481	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr7:98971710-98973476	GM12891	blood:	n/a	n/a
31	JUND	chr7:98971743-98972492	K562	blood:	n/a	chr7:98972305-98972314
32	POLR2A	chr7:98971523-98973442	K562	blood:	n/a	n/a
33	POLR2A	chr7:98971574-98976430	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:98971737-98972478	PBDE	blood:	n/a	n/a
35	POLR2A	chr7:98971722-98973389	HUVEC	blood vessel:	n/a	n/a
36	CREB1	chr7:98971549-98973391	HepG2	liver:	n/a	n/a
37	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
38	PBX3	chr7:98972027-98972664	A549	lung:	n/a	n/a
39	FOXM1	chr7:98972162-98972550	GM12878	blood:	n/a	n/a
40	HEY1	chr7:98972040-98972507	HepG2	liver:	n/a	chr7:98972303-98972318 chr7:98972048-98972063
41	POLR2A	chr7:98971733-98972488	HepG2	liver:	n/a	n/a
42	MYBL2	chr7:98972016-98972382	HepG2	liver:	n/a	n/a
43	TAF1	chr7:98972083-98972663	A549	lung:	n/a	n/a
44	POLR2A	chr7:98971579-98974407	GM12892	blood:	n/a	n/a
45	MAX	chr7:98972192-98972506	Hela-S3	cervix:	n/a	chr7:98972310-98972320
46	REST	chr7:98972296-98972557	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr7:98971501-98972621	PANC-1	pancreas:	n/a	n/a
48	POLR2A	chr7:98971697-98973507	GM12878	blood:	n/a	n/a
49	E2F4	chr7:98972182-98972382	GM12878	blood:	n/a	chr7:98972299-98972309 chr7:98972304-98972313 chr7:98972267-98972276
50	POLR2A	chr7:98971785-98973376	HepG2	liver:	n/a	n/a

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	chr17:56736227..56737813-chr7:98971869..98973511,2	MCF-7	breast:
5	chr7:98970391..98972681-chr7:99033800..99036309,2	K562	blood:
6	chr7:98971053..98973782-chr7:99000134..99003212,3	MCF-7	breast:
7	chr7:98923500..98925484-chr7:98970656..98974432,3	K562	blood:
8	chr7:98923522..98925484-chr7:98970656..98973873,3	K562	blood:
9	chr7:98971244..98973231-chr7:98989224..98993180,5	MCF-7	breast:
10	chr12:98986965..98987945-chr7:98971734..98972433,2	HCT-116	colon:
11	chr7:98972239..98973814-chr7:100025905..100028076,2	K562	blood:
12	chr7:98954568..98956787-chr7:98970778..98974586,3	K562	blood:
13	chr7:98970407..98975516-chr7:99002028..99009396,17	MCF-7	breast:
14	chr7:98970740..98974571-chr7:99004724..99008680,16	MCF-7	breast:
15	chr7:98970545..98974719-chr7:98992685..98998543,7	MCF-7	breast:
16	chr7:98970980..98974747-chr7:98986775..98992580,7	MCF-7	breast:
17	chr7:98970993..98974296-chr7:98982055..98984760,3	K562	blood:
18	chr7:98970906..98973809-chr7:99047334..99049746,3	K562	blood:
19	chr7:98628892..98630976-chr7:98971592..98973183,2	K562	blood:
20	chr7:98960735..98962615-chr7:98972304..98974444,2	K562	blood:
21	chr7:98968876..98974378-chr7:99004810..99008269,11	K562	blood:
22	chr7:98966757..98974253-chr7:98988800..98995304,7	K562	blood:
23	chr7:98970707..98973711-chr7:99034539..99037806,4	MCF-7	breast:
24	chr7:98959822..98968172-chr7:98968902..98974586,14	MCF-7	breast:
25	chr7:98923206..98924865-chr7:98971213..98972924,2	MCF-7	breast:

Variant related genes	Relation type
ARPC1B	TF binding region
ENSG00000160917	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000241685	Chromatin interaction
ENSG00000130429	Chromatin interaction
ENSG00000272205	Chromatin interaction
ENSG00000143190	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000242687	Chromatin interaction
ENSG00000075415	Chromatin interaction
ENSG00000106244	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98970400-98972400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:98970800-98973200	Weak transcription	Fetal Heart	heart
3	chr7:98970800-98977000	Weak transcription	Fetal Lung	lung
4	chr7:98971000-98990400	Weak transcription	Fetal Kidney	kidney
5	chr7:98971400-98973200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr7:98971400-98973400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:98971400-98973400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:98971400-98973400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:98971400-98973400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:98971400-98973400	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr7:98971400-98973400	Active TSS	HSMM	muscle
12	chr7:98971400-98974200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:98971600-98972400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:98971600-98973200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr7:98971600-98973200	Active TSS	Fetal Intestine Large	intestine
16	chr7:98971600-98973200	Active TSS	Lung	lung
17	chr7:98971600-98973200	Active TSS	Pancreas	Pancrea
18	chr7:98971600-98973200	Active TSS	Psoas Muscle	Psoas
19	chr7:98971600-98973200	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr7:98971600-98973200	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr7:98971600-98973200	Active TSS	Stomach Smooth Muscle	stomach
22	chr7:98971600-98973400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:98971600-98973400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr7:98971600-98973400	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr7:98971600-98973400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:98971600-98973400	Active TSS	Aorta	Aorta
27	chr7:98971600-98973400	Active TSS	Colon Smooth Muscle	Colon
28	chr7:98971600-98973400	Active TSS	Esophagus	oesophagus
29	chr7:98971600-98973400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr7:98971600-98973400	Active TSS	Placenta Amnion	Placenta Amnion
31	chr7:98971600-98973400	Active TSS	Right Atrium	heart
32	chr7:98971600-98973400	Active TSS	NHEK	skin
33	chr7:98971600-98973600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:98971600-98973600	Active TSS	Primary T cells from cord blood	blood
35	chr7:98971600-98973600	Active TSS	Right Ventricle	heart
36	chr7:98971600-98973800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:98971600-98973800	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr7:98971600-98974200	Active TSS	Rectal Smooth Muscle	rectum
39	chr7:98971800-98972400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:98971800-98972600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr7:98971800-98972800	Bivalent/Poised TSS	Fetal Brain Female	brain
42	chr7:98971800-98973000	Active TSS	Primary T cells fromperipheralblood	blood
43	chr7:98971800-98973200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:98971800-98973200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:98971800-98973200	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr7:98971800-98973200	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr7:98971800-98973200	Active TSS	Primary B cells from peripheral blood	blood
48	chr7:98971800-98973200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:98971800-98973200	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr7:98971800-98973200	Active TSS	Primary T helper cells fromperipheralblood	blood

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