Variant report

Variant	rs2387625
Chromosome Location	chr8:102645085-102645086
allele	A/C
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	CEBPB	chr8:102644728-102645205	A549	lung:	n/a	n/a
2	STAT3	chr8:102644790-102645103	MCF10A-Er-Src	breast:	n/a	n/a
3	RAD21	chr8:102644737-102645115	H1-hESC	embryonic stem cell:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
4	RAD21	chr8:102644632-102645193	A549	lung:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
5	E2F4	chr8:102644844-102645200	MCF10A-Er-Src	breast:	n/a	n/a
6	SMC3	chr8:102644657-102645180	GM12878	blood:	n/a	n/a
7	CEBPB	chr8:102644658-102645311	A549	lung:	n/a	n/a
8	CTCF	chr8:102645040-102645190	HepG2	liver:	n/a	n/a
9	JUND	chr8:102644859-102645090	K562	blood:	n/a	n/a
10	RAD21	chr8:102644676-102645124	H1-hESC	embryonic stem cell:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
11	CEBPB	chr8:102644649-102645342	MCF-7	breast:	n/a	n/a
12	RAD21	chr8:102643566-102645367	SK-N-SH	brain:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
13	CTCF	chr8:102644695-102645361	K562	blood:	n/a	chr8:102644914-102644935 chr8:102644920-102644936 chr8:102644919-102644937
14	RAD21	chr8:102644598-102645184	MCF-7	breast:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
15	CEBPB	chr8:102644621-102645229	HCT-116	colon:	n/a	n/a
16	CEBPB	chr8:102644739-102645189	ECC-1	luminal epithelium:	n/a	n/a
17	RAD21	chr8:102644541-102645266	HCT-116	colon:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
18	MEF2A	chr8:102644662-102645102	GM12878	blood:	n/a	chr8:102644681-102644692
19	CTCF	chr8:102644732-102645167	K562	blood:	n/a	chr8:102644914-102644935 chr8:102644920-102644936 chr8:102644919-102644937
20	RAD21	chr8:102644655-102645106	H1-hESC	embryonic stem cell:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
21	CTCF	chr8:102644712-102645151	GM12878	blood:	n/a	chr8:102644914-102644935 chr8:102644920-102644936 chr8:102644919-102644937
22	CEBPB	chr8:102644772-102645151	A549	lung:	n/a	n/a
23	RAD21	chr8:102644718-102645122	IMR90	lung:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
24	CEBPB	chr8:102644814-102645095	K562	blood:	n/a	n/a
25	CEBPB	chr8:102644511-102645295	HCT-116	colon:	n/a	n/a
26	RAD21	chr8:102644625-102645178	HCT-116	colon:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
27	RAD21	chr8:102644749-102645094	K562	blood:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
28	CTCF	chr8:102644624-102645144	MCF-7	breast:	n/a	chr8:102644914-102644935 chr8:102644920-102644936 chr8:102644919-102644937
29	RAD21	chr8:102644661-102645124	ECC-1	luminal epithelium:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
30	CEBPB	chr8:102644642-102645260	MCF-7	breast:	n/a	n/a
31	RFX5	chr8:102644852-102645193	K562	blood:	n/a	n/a
32	FOS	chr8:102644792-102645134	MCF10A-Er-Src	breast:	n/a	n/a
33	RAD21	chr8:102644700-102645101	SK-N-SH_RA	brain:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
34	MYC	chr8:102644760-102645091	MCF10A-Er-Src	breast:	n/a	n/a
35	CTCF	chr8:102644800-102645086	Pancreas_OC	pancreas:	n/a	chr8:102644914-102644935 chr8:102644920-102644936 chr8:102644919-102644937
36	CEBPB	chr8:102644779-102645149	HepG2	liver:	n/a	n/a
37	CEBPB	chr8:102644774-102645157	IMR90	lung:	n/a	n/a
38	RAD21	chr8:102644491-102645184	ECC-1	luminal epithelium:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
39	CTCF	chr8:102644668-102645160	T-47D	breast:	n/a	chr8:102644914-102644935 chr8:102644920-102644936 chr8:102644919-102644937
40	SMC3	chr8:102643973-102645326	SK-N-SH	brain:	n/a	n/a
41	CTCF	chr8:102644384-102645736	A549	lung:	n/a	chr8:102644914-102644935 chr8:102644920-102644936 chr8:102644919-102644937
42	CTCF	chr8:102643952-102645391	SK-N-SH	brain:	n/a	chr8:102644914-102644935 chr8:102644920-102644936 chr8:102644919-102644937
43	CTCF	chr8:102644792-102645090	K562	blood:	n/a	chr8:102644914-102644935 chr8:102644920-102644936 chr8:102644919-102644937
44	RAD21	chr8:102644712-102645121	Hela-S3	cervix:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
45	RAD21	chr8:102644489-102645301	MCF-7	breast:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
46	RAD21	chr8:102644671-102645102	SK-N-SH_RA	brain:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
47	RAD21	chr8:102644732-102645108	HepG2	liver:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
48	RAD21	chr8:102644667-102645142	HepG2	liver:	n/a	chr8:102644973-102644982 chr8:102644917-102644936
49	CTCF	chr8:102644753-102645127	ECC-1	luminal epithelium:	n/a	chr8:102644914-102644935 chr8:102644920-102644936 chr8:102644919-102644937
50	ZNF143	chr8:102644756-102645111	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:102503148..102509288-chr8:102639386..102649682,19	MCF-7	breast:
2	chr8:102577206..102577740-chr8:102644735..102645456,2	MCF-7	breast:
3	chr8:102557068..102559432-chr8:102644756..102646494,2	MCF-7	breast:
4	chr8:102338957..102339794-chr8:102644459..102645503,3	MCF-7	breast:
5	chr8:102577611..102578416-chr8:102644647..102645261,2	MCF-7	breast:
6	chr8:102518050..102520843-chr8:102644684..102646400,2	MCF-7	breast:
7	chr8:102643444..102646539-chr8:102648297..102653448,5	MCF-7	breast:
8	chr8:102347709..102348313-chr8:102644498..102645317,3	MCF-7	breast:
9	chr8:102338951..102340127-chr8:102644504..102645388,3	K562	blood:
10	chr8:102499850..102508532-chr8:102642696..102652505,26	MCF-7	breast:

Variant related genes	Relation type
GRHL2	TF binding region
ENSG00000254024	Chromatin interaction
ENSG00000083307	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13275653	0.86[EUR][1000 genomes]
rs2226399	0.85[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3735712	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757285	chr8:102609474-102649681	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2759635	chr8:102609474-102649681	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2761235	chr8:102613079-102646059	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3401576	chr8:102640273-102724495	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102619800-102656200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:102636200-102646200	Weak transcription	Esophagus	oesophagus
3	chr8:102636400-102647200	Weak transcription	HMEC	breast
4	chr8:102636400-102648200	Weak transcription	Fetal Lung	lung
5	chr8:102636600-102646200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:102636800-102645600	Weak transcription	Placenta	Placenta
7	chr8:102636800-102646000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:102637000-102646200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:102637200-102647000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:102637400-102646000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:102637600-102646200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:102642400-102647000	Enhancers	Rectal Smooth Muscle	rectum
13	chr8:102642800-102645200	Enhancers	Stomach Mucosa	stomach
14	chr8:102643000-102647600	Weak transcription	Small Intestine	intestine
15	chr8:102643000-102650800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:102643600-102645200	Enhancers	Liver	Liver
17	chr8:102643600-102647400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:102643800-102646600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:102643800-102647200	Strong transcription	NHEK	skin
20	chr8:102643800-102650000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:102644200-102646000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:102644200-102647400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:102644400-102646000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:102644400-102646200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:102644400-102648400	Weak transcription	Pancreas	Pancrea
26	chr8:102644600-102646200	Weak transcription	Fetal Intestine Large	intestine
27	chr8:102644600-102651200	Weak transcription	Gastric	stomach
28	chr8:102644600-102652200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:102644600-102663800	Weak transcription	Lung	lung
30	chr8:102644800-102645600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:102644800-102646000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:102644800-102646200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:102644800-102646200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:102644800-102646200	Weak transcription	Fetal Intestine Small	intestine
35	chr8:102644800-102646200	Weak transcription	Fetal Stomach	stomach
36	chr8:102644800-102647600	Weak transcription	A549	lung
37	chr8:102644800-102651400	Weak transcription	Fetal Kidney	kidney
38	chr8:102644800-102674600	Weak transcription	Ovary	ovary
39	chr8:102645000-102645200	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr8:102645000-102645800	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:102645000-102647800	Weak transcription	GM12878-XiMat	blood
42	chr8:102645000-102651600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:102645000-102656000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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