Variant report

Variant	rs62525873
Chromosome Location	chr8:61816380-61816381
allele	A/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	POLR2A	chr8:61816022-61816982	HUVEC	blood vessel:	n/a	n/a
2	BCLAF1	chr8:61815908-61817279	GM12878	blood:	n/a	chr8:61816745-61816754
3	RUNX3	chr8:61815920-61817261	GM12878	blood:	n/a	n/a
4	EP300	chr8:61816082-61816879	K562	blood:	n/a	n/a
5	ATF2	chr8:61815624-61817391	GM12878	blood:	n/a	n/a
6	RELA	chr8:61816006-61817171	GM15510	blood:	n/a	n/a
7	CEBPB	chr8:61815763-61817408	GM12878	blood:	n/a	chr8:61816914-61816925 chr8:61816913-61816924
8	POU2F2	chr8:61815999-61816430	GM12891	blood:	n/a	chr8:61816042-61816055 chr8:61816042-61816055 chr8:61816042-61816055
9	RELA	chr8:61816011-61817183	GM18951	blood:	n/a	n/a
10	CREB1	chr8:61815558-61817462	GM12878	blood:	n/a	chr8:61816088-61816101
11	CTCF	chr8:61816280-61816430	HPAF	blood vessel:	n/a	n/a
12	CHD2	chr8:61815805-61817258	GM12878	blood:	n/a	n/a
13	FOXM1	chr8:61815587-61817330	GM12878	blood:	n/a	n/a
14	RCOR1	chr8:61815859-61817300	GM12878	blood:	n/a	n/a
15	RELA	chr8:61815672-61817295	GM12878	blood:	n/a	n/a
16	TBL1XR1	chr8:61815662-61817282	GM12878	blood:	n/a	n/a
17	BCL3	chr8:61815968-61816546	GM12878	blood:	n/a	n/a
18	FOXM1	chr8:61815862-61817318	GM12878	blood:	n/a	n/a
19	MYC	chr8:61816179-61816934	K562	blood:	n/a	n/a
20	RELA	chr8:61815642-61817205	GM19099	blood:	n/a	n/a
21	BATF	chr8:61816012-61816513	GM12878	blood:	n/a	n/a
22	STAT5A	chr8:61815886-61817213	GM12878	blood:	n/a	chr8:61816517-61816525 chr8:61816916-61816924 chr8:61816347-61816355 chr8:61816232-61816244
23	EP300	chr8:61815835-61817305	GM12878	blood:	n/a	chr8:61816911-61816925
24	BATF	chr8:61816011-61816561	GM12878	blood:	n/a	n/a
25	ETS1	chr8:61816299-61817096	GM12878	blood:	n/a	chr8:61816727-61816736 chr8:61816565-61816572
26	CHD1	chr8:61815905-61817169	GM12878	blood:	n/a	n/a
27	JUND	chr8:61815851-61817358	GM12878	blood:	n/a	n/a
28	MAX	chr8:61816220-61817282	GM12878	blood:	n/a	n/a
29	EP300	chr8:61815605-61817307	GM12878	blood:	n/a	chr8:61816911-61816925
30	SP1	chr8:61815920-61817199	GM12878	blood:	n/a	chr8:61816230-61816244
31	EP300	chr8:61815888-61817257	GM12878	blood:	n/a	chr8:61816911-61816925
32	POLR2A	chr8:61816020-61817045	GM12878	blood:	n/a	n/a
33	STAT1	chr8:61816124-61816563	GM12878	blood:	n/a	chr8:61816517-61816525 chr8:61816347-61816355 chr8:61816232-61816244
34	GATA1	chr8:61815488-61817403	K562	blood:	n/a	chr8:61816190-61816206 chr8:61816685-61816692 chr8:61816685-61816692 chr8:61816685-61816692 chr8:61816377-61816387 chr8:61816685-61816695 chr8:61816683-61816693
35	POU2F2	chr8:61816019-61816403	GM12891	blood:	n/a	chr8:61816042-61816055 chr8:61816042-61816055 chr8:61816042-61816055
36	EP300	chr8:61815988-61817189	GM12878	blood:	n/a	chr8:61816911-61816925
37	POLR2A	chr8:61816378-61816761	GM12891	blood:	n/a	n/a
38	PML	chr8:61815972-61816581	GM12878	blood:	n/a	n/a
39	YY1	chr8:61816242-61816495	GM12878	blood:	n/a	n/a
40	RELA	chr8:61815984-61817163	GM10847	blood:	n/a	n/a
41	JUND	chr8:61816045-61816826	K562	blood:	n/a	n/a
42	CREB1	chr8:61815839-61817382	GM12878	blood:	n/a	chr8:61816088-61816101
43	NFIC	chr8:61815636-61817311	GM12878	blood:	n/a	n/a
44	EBF1	chr8:61816031-61816381	GM12878	blood:	n/a	n/a
45	BCL11A	chr8:61816050-61816505	GM12878	blood:	n/a	n/a
46	RELA	chr8:61816025-61817340	GM19193	blood:	n/a	n/a
47	MTA3	chr8:61815898-61817286	GM12878	blood:	n/a	n/a
48	PAX5	chr8:61815962-61816577	GM12878	blood:	n/a	n/a
49	MEF2C	chr8:61815865-61817316	GM12878	blood:	n/a	chr8:61815955-61815976 chr8:61816847-61816868 chr8:61815962-61815971 chr8:61815958-61815975 chr8:61815961-61815972 chr8:61816847-61816868 chr8:61815959-61815974 chr8:61816848-61816863 chr8:61815959-61815975 chr8:61815955-61815976 chr8:61816047-61816063 chr8:61816379-61816387
50	BHLHE40	chr8:61815921-61817292	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61814901..61816723-chr8:61822451..61825300,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271377	TF binding region
ENSG00000254777	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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61811800-61817000	Enhancers	Fetal Thymus	thymus
2	chr8:61812000-61817200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr8:61812000-61817600	Enhancers	Primary T cells from cord blood	blood
4	chr8:61812200-61821200	Weak transcription	Right Atrium	heart
5	chr8:61813800-61817200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr8:61814200-61817400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr8:61814400-61816400	Enhancers	Fetal Intestine Large	intestine
8	chr8:61814600-61817400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:61814800-61816600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:61814800-61817200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:61814800-61817400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:61815000-61816800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr8:61815000-61817000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr8:61815000-61817200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr8:61815200-61816800	Enhancers	Small Intestine	intestine
16	chr8:61815200-61817200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:61815200-61817200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr8:61815400-61817200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:61815600-61816400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:61815600-61817000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:61815600-61817000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:61815600-61817200	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:61815600-61817200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:61815600-61817400	Flanking Active TSS	GM12878-XiMat	blood
25	chr8:61815600-61818000	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:61815800-61816600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:61815800-61817000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:61815800-61817200	Enhancers	K562	blood
29	chr8:61816000-61816400	Enhancers	Primary hematopoietic stem cells	blood
30	chr8:61816000-61816400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
31	chr8:61816000-61816600	Enhancers	Primary B cells from cord blood	blood
32	chr8:61816000-61816600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:61816000-61816800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:61816000-61816800	Active TSS	Rectal Smooth Muscle	rectum
35	chr8:61816000-61817000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr8:61816000-61817000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr8:61816000-61817000	Flanking Active TSS	HUVEC	blood vessel
38	chr8:61816000-61817200	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr8:61816000-61817400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr8:61816000-61817400	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr8:61816200-61816400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr8:61816200-61816400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:61816200-61816400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:61816200-61816600	Flanking Active TSS	Colonic Mucosa	Colon
45	chr8:61816200-61816600	Enhancers	Pancreas	Pancrea
46	chr8:61816200-61816800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:61816200-61816800	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr8:61816200-61816800	Enhancers	NH-A	brain
49	chr8:61816200-61817000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:61816200-61817000	Flanking Active TSS	Stomach Mucosa	stomach

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