Variant report

Variant	rs57290194
Chromosome Location	chr7:96656766-96656767
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	RAD21	chr7:96656749-96657492	A549	lung:	n/a	chr7:96657146-96657165
2	RAD21	chr7:96656639-96657412	SK-N-SH_RA	brain:	n/a	chr7:96657146-96657165
3	RAD21	chr7:96656755-96657403	ECC-1	luminal epithelium:	n/a	chr7:96657146-96657165
4	RAD21	chr7:96656733-96657423	H1-hESC	embryonic stem cell:	n/a	chr7:96657146-96657165
5	RAD21	chr7:96656717-96657323	HepG2	liver:	n/a	chr7:96657146-96657165
6	RAD21	chr7:96655299-96657631	SK-N-SH	brain:	n/a	chr7:96655925-96655938 chr7:96657146-96657165
7	SIN3A	chr7:96656747-96657382	H1-hESC	embryonic stem cell:	n/a	n/a
8	SUZ12	chr7:96655000-96657260	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr7:96656766-96657183	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:96656754-96657294	H1-neurons	neurons:	n/a	n/a
11	MAZ	chr7:96656523-96657379	IMR90	lung:	n/a	n/a
12	CEBPB	chr7:96656737-96657369	HepG2	liver:	n/a	chr7:96657173-96657186
13	RAD21	chr7:96656759-96657393	H1-hESC	embryonic stem cell:	n/a	chr7:96657146-96657165
14	CTCF	chr7:96656762-96657489	SK-N-SH	brain:	n/a	chr7:96657143-96657164 chr7:96657149-96657165 chr7:96657438-96657447 chr7:96657148-96657166 chr7:96657340-96657353
15	SMC3	chr7:96656317-96657484	SK-N-SH	brain:	n/a	chr7:96657150-96657164
16	RAD21	chr7:96656721-96657357	SK-N-SH_RA	brain:	n/a	chr7:96657146-96657165
17	CEBPB	chr7:96656607-96657358	IMR90	lung:	n/a	chr7:96657173-96657186
18	RAD21	chr7:96656738-96657492	HCT-116	colon:	n/a	chr7:96657146-96657165
19	CEBPB	chr7:96656762-96657365	K562	blood:	n/a	chr7:96657173-96657186
20	CEBPB	chr7:96656634-96657363	HepG2	liver:	n/a	chr7:96657173-96657186
21	CTCF	chr7:96656407-96657547	A549	lung:	n/a	chr7:96657143-96657164 chr7:96657149-96657165 chr7:96657438-96657447 chr7:96657148-96657166 chr7:96657340-96657353
22	RAD21	chr7:96656640-96657389	H1-hESC	embryonic stem cell:	n/a	chr7:96657146-96657165
23	RAD21	chr7:96656693-96657506	MCF-7	breast:	n/a	chr7:96657146-96657165
24	RAD21	chr7:96656654-96657408	HepG2	liver:	n/a	chr7:96657146-96657165
25	SPI1	chr7:96656529-96657328	HL-60	blood:	n/a	chr7:96656698-96656705 chr7:96657095-96657108 chr7:96656632-96656645 chr7:96657097-96657106
26	POLR2A	chr7:96656740-96657353	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:96043946..96045030-chr7:96656697..96657364,4	MCF-7	breast:
2	chr7:95545576..95546334-chr7:96656671..96657323,2	MCF-7	breast:
3	chr7:96225537..96226097-chr7:96656475..96657185,2	MCF-7	breast:
4	chr7:96043912..96044894-chr7:96656658..96657199,2	K562	blood:
5	chr7:95704638..95705175-chr7:96656712..96657665,3	MCF-7	breast:
6	chr7:95545664..95546562-chr7:96656661..96657618,4	K562	blood:
7	chr7:96225160..96226127-chr7:96656683..96657269,3	MCF-7	breast:
8	chr7:96043724..96045086-chr7:96656681..96657696,8	MCF-7	breast:
9	chr7:95704827..95705374-chr7:96656702..96657589,2	K562	blood:
10	chr7:96656634..96658904-chr7:96661777..96663650,2	K562	blood:

Variant related genes	Relation type
DLX5	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17168147	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61277211	1.00[AMR][1000 genomes]
rs6963087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404527	1.00[EUR][1000 genomes]
rs73404541	1.00[EUR][1000 genomes]
rs73404545	1.00[EUR][1000 genomes]
rs73404547	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv824221	chr7:96620279-96669211	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96654000-96657200	Bivalent Enhancer	Fetal Brain Male	brain
2	chr7:96654200-96656800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:96654400-96657200	Bivalent/Poised TSS	Fetal Brain Female	brain
4	chr7:96654600-96657000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:96655200-96656800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:96655200-96657200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
7	chr7:96655400-96657200	Active TSS	Right Atrium	heart
8	chr7:96655600-96656800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:96655600-96656800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr7:96655600-96656800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:96655600-96656800	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr7:96655600-96656800	Enhancers	Pancreas	Pancrea
13	chr7:96655600-96657000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:96655600-96657000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
15	chr7:96655600-96657200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr7:96655600-96657200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr7:96655600-96657200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:96655600-96657200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:96655600-96657200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
20	chr7:96655600-96657200	Enhancers	Spleen	Spleen
21	chr7:96655800-96657000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:96655800-96657000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
23	chr7:96655800-96657000	Bivalent Enhancer	Fetal Thymus	thymus
24	chr7:96655800-96657200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
25	chr7:96655800-96657200	Active TSS	Brain Anterior Caudate	brain
26	chr7:96655800-96657200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
27	chr7:96656000-96656800	Weak transcription	Gastric	stomach
28	chr7:96656000-96656800	Enhancers	Lung	lung
29	chr7:96656000-96656800	Bivalent/Poised TSS	NHDF-Ad	bronchial
30	chr7:96656000-96657200	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr7:96656200-96656800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
32	chr7:96656200-96656800	Bivalent Enhancer	Placenta	Placenta
33	chr7:96656200-96656800	Bivalent Enhancer	GM12878-XiMat	blood
34	chr7:96656200-96657000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
35	chr7:96656200-96657200	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr7:96656200-96657200	Bivalent/Poised TSS	Colonic Mucosa	Colon
37	chr7:96656200-96657200	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr7:96656200-96657200	Bivalent/Poised TSS	Psoas Muscle	Psoas
39	chr7:96656200-96657200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
40	chr7:96656200-96657400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr7:96656400-96656800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:96656400-96656800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:96656400-96657000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
44	chr7:96656400-96657000	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
45	chr7:96656400-96657000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:96656400-96657000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:96656400-96657000	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr7:96656400-96657000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
49	chr7:96656400-96657000	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr7:96656400-96657200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell

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