Variant report

Variant	rs73395595
Chromosome Location	chr7:98970244-98970245
allele	C/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	POLR2A	chr7:98969974-98970662	HepG2	liver:	n/a	n/a
2	SIN3AK20	chr7:98970140-98970541	HepG2	liver:	n/a	n/a
3	ELF1	chr7:98970007-98970692	MCF-7	breast:	n/a	chr7:98970300-98970313 chr7:98970301-98970312 chr7:98970302-98970311 chr7:98970301-98970312
4	RFX5	chr7:98970234-98970637	HepG2	liver:	n/a	chr7:98970287-98970302
5	MAZ	chr7:98970176-98970616	HepG2	liver:	n/a	n/a
6	JUN	chr7:98970076-98970508	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:98970113-98970888	K562	blood:	n/a	n/a
8	EP300	chr7:98969850-98970686	ECC-1	luminal epithelium:	n/a	chr7:98970638-98970648
9	CEBPB	chr7:98969888-98970321	K562	blood:	n/a	chr7:98970088-98970099
10	SMC3	chr7:98970139-98970531	HepG2	liver:	n/a	n/a
11	HEY1	chr7:98969988-98970627	HepG2	liver:	n/a	n/a
12	HEY1	chr7:98970103-98970607	HepG2	liver:	n/a	n/a
13	MYC	chr7:98970230-98970396	HepG2	liver:	n/a	n/a
14	EP300	chr7:98970071-98970656	HepG2	liver:	n/a	chr7:98970638-98970648
15	POLR2A	chr7:98970158-98970681	HepG2	liver:	n/a	n/a
16	MAFF	chr7:98970237-98970527	HepG2	liver:	n/a	n/a
17	MAFK	chr7:98970207-98970453	HepG2	liver:	n/a	n/a
18	CEBPB	chr7:98969911-98970590	HepG2	liver:	n/a	chr7:98970088-98970099
19	CEBPB	chr7:98969917-98970581	HepG2	liver:	n/a	chr7:98970088-98970099
20	CEBPB	chr7:98969909-98970275	Hela-S3	cervix:	n/a	chr7:98970088-98970099
21	CEBPB	chr7:98969934-98970395	A549	lung:	n/a	chr7:98970088-98970099
22	CEBPB	chr7:98969929-98970294	K562	blood:	n/a	chr7:98970088-98970099
23	USF1	chr7:98970143-98970601	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr7:98970051-98970569	ECC-1	luminal epithelium:	n/a	n/a
25	RXRA	chr7:98970010-98970685	HepG2	liver:	n/a	chr7:98970298-98970307
26	CEBPB	chr7:98969872-98970452	ECC-1	luminal epithelium:	n/a	chr7:98970088-98970099
27	ELF1	chr7:98969942-98970888	HepG2	liver:	n/a	chr7:98970300-98970313 chr7:98970301-98970312 chr7:98970302-98970311 chr7:98970301-98970312
28	TCF12	chr7:98969865-98970859	ECC-1	luminal epithelium:	n/a	chr7:98970638-98970647
29	USF1	chr7:98970109-98970666	ECC-1	luminal epithelium:	n/a	n/a
30	CEBPB	chr7:98969911-98970499	ECC-1	luminal epithelium:	n/a	chr7:98970088-98970099
31	EP300	chr7:98970113-98970467	HepG2	liver:	n/a	n/a
32	NFIC	chr7:98970117-98970660	HepG2	liver:	n/a	n/a
33	TCF12	chr7:98969904-98970644	ECC-1	luminal epithelium:	n/a	n/a
34	NR2F2	chr7:98970228-98970511	K562	blood:	n/a	n/a
35	CEBPD	chr7:98969967-98970500	HepG2	liver:	n/a	n/a
36	POLR2A	chr7:98970101-98970638	HepG2	liver:	n/a	n/a
37	MAX	chr7:98969936-98970681	ECC-1	luminal epithelium:	n/a	n/a
38	TBP	chr7:98970014-98970621	HepG2	liver:	n/a	n/a
39	CEBPB	chr7:98969939-98970283	A549	lung:	n/a	chr7:98970088-98970099
40	POLR2A	chr7:98970049-98971023	HepG2	liver:	n/a	n/a
41	POLR2A	chr7:98970126-98970476	HCT-116	colon:	n/a	n/a
42	RXRA	chr7:98970182-98970666	HepG2	liver:	n/a	chr7:98970298-98970307
43	ARID3A	chr7:98970074-98970679	HepG2	liver:	n/a	chr7:98970146-98970162
44	MAX	chr7:98969829-98970585	ECC-1	luminal epithelium:	n/a	n/a
45	MXI1	chr7:98970127-98970705	HepG2	liver:	n/a	n/a
46	USF1	chr7:98970222-98970569	HepG2	liver:	n/a	n/a
47	TEAD4	chr7:98969791-98970743	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr7:98970101-98970585	HepG2	liver:	n/a	n/a
49	FOXA2	chr7:98970165-98970507	HepG2	liver:	n/a	n/a
50	POLR2A	chr7:98970149-98970990	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:98921655..98927239-chr7:98969297..98973851,7	MCF-7	breast:
2	chr7:98964264..98966254-chr7:98968520..98970392,2	K562	blood:
3	chr7:98968876..98974378-chr7:99004810..99008269,11	K562	blood:
4	chr7:98966757..98974253-chr7:98988800..98995304,7	K562	blood:
5	chr7:98959822..98968172-chr7:98968902..98974586,14	MCF-7	breast:

Variant related genes	Relation type
ARPC1B	TF binding region
ENSG00000241685	Chromatin interaction
ENSG00000130429	Chromatin interaction
ENSG00000106244	Chromatin interaction
ENSG00000106245	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs60101751	0.90[AFR][1000 genomes]
rs61172548	0.81[AFR][1000 genomes]
rs61239848	0.90[AFR][1000 genomes]
rs61742315	0.90[AFR][1000 genomes]
rs61743632	1.00[AMR][1000 genomes]
rs73395582	1.00[AMR][1000 genomes]
rs73397427	1.00[AMR][1000 genomes]
rs73397451	1.00[AMR][1000 genomes]
rs73397501	1.00[AMR][1000 genomes]
rs73403243	1.00[AMR][1000 genomes]
rs73403257	1.00[AMR][1000 genomes]
rs73407270	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:120 , 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	chr7:98956200-98970400	Weak transcription	Stomach Mucosa	stomach
6	chr7:98959400-98970400	Weak transcription	Psoas Muscle	Psoas
7	chr7:98959400-98971600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:98961200-98971600	Weak transcription	Small Intestine	intestine
9	chr7:98962200-98971600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:98962800-98971400	Weak transcription	Primary B cells from cord blood	blood
11	chr7:98964600-98970600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:98964600-98971600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:98964600-98971600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:98964800-98971400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:98964800-98971400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:98965000-98970400	Weak transcription	Fetal Lung	lung
17	chr7:98965000-98970800	Weak transcription	Primary T cells from cord blood	blood
18	chr7:98965000-98971400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:98965000-98971600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:98965000-98971600	Weak transcription	HMEC	breast
21	chr7:98965000-98971800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:98965000-98971800	Weak transcription	Brain Substantia Nigra	brain
23	chr7:98965200-98970400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:98965200-98970400	Weak transcription	Lung	lung
25	chr7:98965200-98970400	Weak transcription	Ovary	ovary
26	chr7:98965200-98970800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:98965200-98970800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:98965200-98971400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:98965200-98971400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:98965200-98971400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:98965200-98971400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:98965200-98971400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:98965200-98971600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr7:98965200-98971600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:98965200-98971600	Weak transcription	Aorta	Aorta
36	chr7:98965200-98971600	Weak transcription	Esophagus	oesophagus
37	chr7:98965200-98971600	Weak transcription	Gastric	stomach
38	chr7:98965200-98971600	Weak transcription	HUVEC	blood vessel
39	chr7:98965200-98971800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:98965400-98971600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:98966600-98971200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr7:98966600-98971600	Weak transcription	GM12878-XiMat	blood
43	chr7:98966800-98971600	Weak transcription	Dnd41	blood
44	chr7:98966800-98971800	Weak transcription	Hela-S3	cervix
45	chr7:98967000-98971400	Weak transcription	A549	lung
46	chr7:98967200-98971000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr7:98967200-98971600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:98967400-98970400	Weak transcription	Right Ventricle	heart
49	chr7:98967400-98971800	Weak transcription	Brain Germinal Matrix	brain
50	chr7:98967600-98971600	Weak transcription	Stomach Smooth Muscle	stomach

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