Variant report

Variant	rs2057906
Chromosome Location	chr7:98984879-98984880
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr7:98984491-98984961	HepG2	liver:	n/a	n/a
2	CTCF	chr7:98984085-98984997	A549	lung:	n/a	n/a
3	CTCF	chr7:98984497-98984928	K562	blood:	n/a	n/a
4	CTCF	chr7:98984568-98984924	A549	lung:	n/a	n/a
5	RAD21	chr7:98984492-98984938	SK-N-SH_RA	brain:	n/a	n/a
6	POLR2A	chr7:98984183-98984936	SK-N-SH	brain:	n/a	n/a
7	CEBPB	chr7:98984877-98985229	Hela-S3	cervix:	n/a	chr7:98985007-98985018
8	CTCF	chr7:98984555-98984892	IMR90	lung:	n/a	n/a
9	POLR2A	chr7:98983952-98985267	GM12891	blood:	n/a	n/a
10	CTCF	chr7:98984504-98984893	K562	blood:	n/a	n/a
11	POLR2A	chr7:98984457-98984930	K562	blood:	n/a	n/a
12	RAD21	chr7:98984611-98984890	HepG2	liver:	n/a	n/a
13	RAD21	chr7:98984369-98984971	HCT-116	colon:	n/a	n/a
14	RAD21	chr7:98984477-98984892	ECC-1	luminal epithelium:	n/a	n/a
15	RAD21	chr7:98984531-98984888	GM12878	blood:	n/a	n/a
16	RAD21	chr7:98984452-98984915	MCF-7	breast:	n/a	n/a
17	ZNF143	chr7:98984538-98984893	GM12878	blood:	n/a	n/a
18	SMC3	chr7:98984547-98984882	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr7:98984530-98984927	GM12878	blood:	n/a	n/a
20	SMC3	chr7:98984503-98984909	HepG2	liver:	n/a	n/a
21	RAD21	chr7:98984421-98984914	A549	lung:	n/a	n/a
22	POLR2A	chr7:98984539-98985258	MCF10A-Er-Src	breast:	n/a	n/a
23	MYC	chr7:98984487-98984883	NB4	blood:	n/a	n/a
24	RAD21	chr7:98984489-98984905	HepG2	liver:	n/a	n/a
25	POLR2A	chr7:98983818-98984912	K562	blood:	n/a	n/a
26	RAD21	chr7:98984430-98984887	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr7:98984509-98984940	HCT-116	colon:	n/a	n/a
28	CTCF	chr7:98984535-98984881	A549	lung:	n/a	n/a
29	JUND	chr7:98984513-98984889	K562	blood:	n/a	n/a
30	CTCF	chr7:98984525-98984894	HepG2	liver:	n/a	n/a
31	SMC3	chr7:98984546-98984896	K562	blood:	n/a	n/a
32	POLR2A	chr7:98983912-98984928	GM12878	blood:	n/a	n/a
33	CEBPB	chr7:98984874-98985112	IMR90	lung:	n/a	chr7:98985007-98985018
34	CEBPB	chr7:98984870-98985236	K562	blood:	n/a	chr7:98985007-98985018
35	CTCF	chr7:98984512-98984924	K562	blood:	n/a	n/a
36	POLR2A	chr7:98984209-98985606	HepG2	liver:	n/a	n/a
37	SMC3	chr7:98984534-98984898	GM12878	blood:	n/a	n/a
38	RAD21	chr7:98984537-98984884	IMR90	lung:	n/a	n/a
39	POLR2A	chr7:98984235-98984935	Hela-S3	cervix:	n/a	n/a
40	RAD21	chr7:98984542-98984889	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr7:98984817-98985164	MCF-7	breast:	n/a	chr7:98985007-98985018
42	POLR2A	chr7:98983966-98984965	K562	blood:	n/a	n/a
43	RAD21	chr7:98984537-98984889	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr7:98983966-98985018	K562	blood:	n/a	n/a
45	CEBPB	chr7:98984860-98985233	HepG2	liver:	n/a	chr7:98985007-98985018
46	SIN3AK20	chr7:98984515-98984893	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr7:98984486-98984930	MCF-7	breast:	n/a	n/a
48	CEBPB	chr7:98984871-98985238	A549	lung:	n/a	chr7:98985007-98985018
49	CTCF	chr7:98984820-98984970	BE2_C	brain:	n/a	n/a
50	CEBPB	chr7:98984864-98985230	HepG2	liver:	n/a	chr7:98985007-98985018

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98963016..98963837-chr7:98984520..98985154,2	MCF-7	breast:
2	chr7:98962837..98963797-chr7:98984507..98985215,3	MCF-7	breast:
3	chr7:98960796..98963310-chr7:98983560..98985753,2	MCF-7	breast:
4	chr7:98981776..98988825-chr7:99001775..99008244,9	K562	blood:
5	chr7:98637667..98638624-chr7:98984609..98985242,2	K562	blood:

No data

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

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1002172	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1004387	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10155966	0.86[ASN][1000 genomes]
rs10225314	0.84[EUR][1000 genomes]
rs10236149	0.87[ASN][1000 genomes]
rs10243678	0.84[ASN][1000 genomes]
rs10249167	0.85[ASN][1000 genomes]
rs10255399	0.90[ASN][1000 genomes]
rs10258757	0.90[ASN][1000 genomes]
rs10270459	0.91[ASN][1000 genomes]
rs10270917	0.88[ASN][1000 genomes]
rs10464604	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11539770	1.00[EUR][1000 genomes]
rs11762273	0.89[ASN][1000 genomes]
rs17161652	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17161677	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161695	0.85[YRI][hapmap]
rs17161698	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17161766	0.92[EUR][1000 genomes]
rs17161768	1.00[EUR][1000 genomes]
rs17161769	1.00[EUR][1000 genomes]
rs17161771	0.84[EUR][1000 genomes]
rs17161772	0.84[EUR][1000 genomes]
rs17161774	0.92[EUR][1000 genomes]
rs1985453	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2057905	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2072181	0.81[ASN][1000 genomes]
rs2107705	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2240385	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2269985	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2404322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2404323	0.84[ASN][1000 genomes]
rs3764815	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3800960	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs45492098	1.00[EUR][1000 genomes]
rs45540134	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45622743	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729532	0.85[YRI][hapmap]
rs58222677	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58421977	1.00[EUR][1000 genomes]
rs59986060	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61159815	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61337492	0.92[EUR][1000 genomes]
rs61402640	1.00[EUR][1000 genomes]
rs61543997	1.00[EUR][1000 genomes]
rs6955490	0.85[YRI][hapmap]
rs72494451	1.00[EUR][1000 genomes]
rs72494452	1.00[EUR][1000 genomes]
rs73709637	1.00[EUR][1000 genomes]
rs73709641	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs940336	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98971000-98990400	Weak transcription	Fetal Kidney	kidney
2	chr7:98973400-98987400	Weak transcription	Brain Germinal Matrix	brain
3	chr7:98973400-98987800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:98973400-98989800	Weak transcription	Brain Angular Gyrus	brain
5	chr7:98978000-98987000	Weak transcription	Small Intestine	intestine
6	chr7:98978200-98989800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:98978800-98985000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:98978800-98989000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:98979000-98989600	Weak transcription	Stomach Mucosa	stomach
10	chr7:98979200-98987000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:98979200-98987000	Weak transcription	HSMM	muscle
12	chr7:98979200-98989600	Weak transcription	Brain Substantia Nigra	brain
13	chr7:98979400-99001800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:98979600-98989800	Weak transcription	Fetal Heart	heart
15	chr7:98979600-98990200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:98979600-98990200	Weak transcription	Right Atrium	heart
17	chr7:98980400-99003800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:98980600-98989600	Strong transcription	NHEK	skin
19	chr7:98980800-98990000	Strong transcription	NHLF	lung
20	chr7:98980800-99000600	Strong transcription	Dnd41	blood
21	chr7:98981000-98988400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr7:98981000-98993000	Strong transcription	A549	lung
23	chr7:98981200-98989800	Strong transcription	Fetal Intestine Small	intestine
24	chr7:98981200-98989800	Strong transcription	Thymus	Thymus
25	chr7:98981200-98990000	Strong transcription	K562	blood
26	chr7:98981400-98989800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr7:98981400-98989800	Strong transcription	Fetal Stomach	stomach
28	chr7:98981600-98989800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:98981800-98986800	Weak transcription	Fetal Brain Female	brain
30	chr7:98981800-98988800	Strong transcription	GM12878-XiMat	blood
31	chr7:98981800-98989800	Weak transcription	Fetal Brain Male	brain
32	chr7:98982400-98987200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:98982400-98987400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:98982400-98989600	Strong transcription	Spleen	Spleen
35	chr7:98982400-98989800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:98982800-98989000	Strong transcription	Fetal Thymus	thymus
37	chr7:98983000-98988600	Strong transcription	Gastric	stomach
38	chr7:98983000-98989400	Strong transcription	Fetal Muscle Leg	muscle
39	chr7:98983000-98989600	Strong transcription	HMEC	breast
40	chr7:98983000-98989600	Strong transcription	HUVEC	blood vessel
41	chr7:98983000-98989800	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:98983200-98989000	Strong transcription	Pancreas	Pancrea
43	chr7:98983200-98989000	Strong transcription	Right Ventricle	heart
44	chr7:98983200-98989200	Strong transcription	Colonic Mucosa	Colon
45	chr7:98983200-98989400	Strong transcription	Fetal Intestine Large	intestine
46	chr7:98983200-98989800	Strong transcription	Fetal Muscle Trunk	muscle
47	chr7:98983200-98989800	Strong transcription	Lung	lung
48	chr7:98983200-98990000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:98983200-98990000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:98983200-98990000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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