Variant report

Variant	rs561986319
Chromosome Location	chr8:61816602-61816603
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	RELA	chr8:61816011-61817183	GM18951	blood:	n/a	n/a
9	CREB1	chr8:61815558-61817462	GM12878	blood:	n/a	chr8:61816088-61816101
10	CHD2	chr8:61815805-61817258	GM12878	blood:	n/a	n/a
11	FOXM1	chr8:61815587-61817330	GM12878	blood:	n/a	n/a
12	RCOR1	chr8:61815859-61817300	GM12878	blood:	n/a	n/a
13	RELA	chr8:61815672-61817295	GM12878	blood:	n/a	n/a
14	TBL1XR1	chr8:61815662-61817282	GM12878	blood:	n/a	n/a
15	MEF2A	chr8:61816522-61817242	GM12878	blood:	n/a	chr8:61816847-61816868 chr8:61816847-61816868 chr8:61816848-61816863
16	FOXM1	chr8:61815862-61817318	GM12878	blood:	n/a	n/a
17	MYC	chr8:61816179-61816934	K562	blood:	n/a	n/a
18	RELA	chr8:61815642-61817205	GM19099	blood:	n/a	n/a
19	BCLAF1	chr8:61816534-61817213	GM12878	blood:	n/a	chr8:61816745-61816754
20	STAT5A	chr8:61815886-61817213	GM12878	blood:	n/a	chr8:61816517-61816525 chr8:61816916-61816924 chr8:61816347-61816355 chr8:61816232-61816244
21	EP300	chr8:61815835-61817305	GM12878	blood:	n/a	chr8:61816911-61816925
22	ETS1	chr8:61816299-61817096	GM12878	blood:	n/a	chr8:61816727-61816736 chr8:61816565-61816572
23	CHD1	chr8:61815905-61817169	GM12878	blood:	n/a	n/a
24	JUND	chr8:61815851-61817358	GM12878	blood:	n/a	n/a
25	TAL1	chr8:61816565-61816775	K562	blood:	n/a	n/a
26	MAX	chr8:61816220-61817282	GM12878	blood:	n/a	n/a
27	EP300	chr8:61815605-61817307	GM12878	blood:	n/a	chr8:61816911-61816925
28	SP1	chr8:61815920-61817199	GM12878	blood:	n/a	chr8:61816230-61816244
29	EP300	chr8:61815888-61817257	GM12878	blood:	n/a	chr8:61816911-61816925
30	SPI1	chr8:61816444-61817126	HL-60	blood:	n/a	n/a
31	POLR2A	chr8:61816020-61817045	GM12878	blood:	n/a	n/a
32	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
33	UBTF	chr8:61816544-61816781	K562	blood:	n/a	n/a
34	EP300	chr8:61815988-61817189	GM12878	blood:	n/a	chr8:61816911-61816925
35	POLR2A	chr8:61816378-61816761	GM12891	blood:	n/a	n/a
36	RELA	chr8:61815984-61817163	GM10847	blood:	n/a	n/a
37	JUND	chr8:61816045-61816826	K562	blood:	n/a	n/a
38	CREB1	chr8:61815839-61817382	GM12878	blood:	n/a	chr8:61816088-61816101
39	CUX1	chr8:61816497-61816809	K562	blood:	n/a	n/a
40	NFIC	chr8:61815636-61817311	GM12878	blood:	n/a	n/a
41	RELA	chr8:61816025-61817340	GM19193	blood:	n/a	n/a
42	MTA3	chr8:61815898-61817286	GM12878	blood:	n/a	n/a
43	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
44	BHLHE40	chr8:61815921-61817292	GM12878	blood:	n/a	n/a
45	EBF1	chr8:61816022-61817237	GM12878	blood:	n/a	n/a
46	STAT5A	chr8:61815971-61817235	GM12878	blood:	n/a	chr8:61816517-61816525 chr8:61816916-61816924 chr8:61816347-61816355 chr8:61816232-61816244
47	TBP	chr8:61815767-61817321	GM12878	blood:	n/a	n/a
48	IRF4	chr8:61815973-61817222	GM12878	blood:	n/a	n/a
49	RELA	chr8:61815580-61817305	GM18505	blood:	n/a	n/a
50	MAZ	chr8:61815837-61817102	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:61 , 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	chr8:61814600-61817400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:61814800-61817200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:61814800-61817400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:61815000-61816800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr8:61815000-61817000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr8:61815000-61817200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr8:61815200-61816800	Enhancers	Small Intestine	intestine
14	chr8:61815200-61817200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:61815200-61817200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr8:61815400-61817200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:61815600-61817000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:61815600-61817000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:61815600-61817200	Enhancers	Primary B cells from peripheral blood	blood
20	chr8:61815600-61817200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:61815600-61817400	Flanking Active TSS	GM12878-XiMat	blood
22	chr8:61815600-61818000	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:61815800-61817000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:61815800-61817200	Enhancers	K562	blood
25	chr8:61816000-61816800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:61816000-61816800	Active TSS	Rectal Smooth Muscle	rectum
27	chr8:61816000-61817000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr8:61816000-61817000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr8:61816000-61817000	Flanking Active TSS	HUVEC	blood vessel
30	chr8:61816000-61817200	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr8:61816000-61817400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:61816000-61817400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr8:61816200-61816800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:61816200-61816800	Flanking Active TSS	Fetal Intestine Small	intestine
35	chr8:61816200-61816800	Enhancers	NH-A	brain
36	chr8:61816200-61817000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:61816200-61817000	Flanking Active TSS	Stomach Mucosa	stomach
38	chr8:61816200-61817000	Enhancers	HSMM	muscle
39	chr8:61816200-61817200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr8:61816200-61817200	Enhancers	Fetal Lung	lung
41	chr8:61816200-61817200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr8:61816200-61817200	Flanking Active TSS	HepG2	liver
43	chr8:61816200-61817800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:61816400-61816800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr8:61816400-61816800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr8:61816400-61816800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:61816400-61816800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:61816400-61816800	Enhancers	Placenta	Placenta
49	chr8:61816400-61816800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
50	chr8:61816400-61817000	Enhancers	HUES6 Cell Line	embryonic stem cell

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