Variant report

Variant	rs199669277
Chromosome Location	chr8:105600527-105600528
allele	C/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	BRCA1	chr8:105600439-105600600	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr8:105599933-105602287	K562	blood:	n/a	chr8:105600627-105600637 chr8:105601356-105601365
3	POLR2A	chr8:105600267-105602170	K562	blood:	n/a	n/a
4	ZC3H11A	chr8:105600523-105600700	K562	blood:	n/a	n/a
5	RCOR1	chr8:105600069-105601948	IMR90	lung:	n/a	n/a
6	RCOR1	chr8:105600292-105600613	GM12878	blood:	n/a	n/a
7	CHD1	chr8:105597872-105601900	GM12878	blood:	n/a	chr8:105601730-105601740
8	POLR2A	chr8:105600474-105600563	GM12878	blood:	n/a	n/a
9	CHD2	chr8:105600357-105600713	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:105600524-105602191	GM19099	blood:	n/a	n/a
11	BACH1	chr8:105600417-105600945	H1-hESC	embryonic stem cell:	n/a	n/a
12	TBP	chr8:105600357-105601707	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZBTB7A	chr8:105600409-105601158	ECC-1	luminal epithelium:	n/a	chr8:105600747-105600755
14	MAX	chr8:105600355-105600572	K562	blood:	n/a	n/a
15	POLR2A	chr8:105600518-105602105	GM19193	blood:	n/a	n/a
16	MAZ	chr8:105600371-105601965	GM12878	blood:	n/a	chr8:105600627-105600637 chr8:105601356-105601365
17	ZNF143	chr8:105600359-105601753	GM12878	blood:	n/a	chr8:105601341-105601351 chr8:105601726-105601744 chr8:105601463-105601473
18	CHD2	chr8:105600444-105600664	H1-hESC	embryonic stem cell:	n/a	n/a
19	TBL1XR1	chr8:105599620-105600603	K562	blood:	n/a	n/a
20	BHLHE40	chr8:105600254-105600630	K562	blood:	n/a	n/a
21	POLR2A	chr8:105600494-105600777	H1-hESC	embryonic stem cell:	n/a	n/a
22	MXI1	chr8:105600345-105600600	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF1	chr8:105600272-105600648	H1-hESC	embryonic stem cell:	n/a	n/a
24	CUX1	chr8:105600521-105600615	K562	blood:	n/a	n/a
25	GATA2	chr8:105600106-105600619	SH-SY5Y	brain:	n/a	n/a
26	E2F6	chr8:105600463-105602154	K562	blood:	n/a	chr8:105601463-105601473 chr8:105601485-105601499 chr8:105601488-105601502 chr8:105600629-105600638 chr8:105601535-105601546
27	REST	chr8:105600426-105600626	K562	blood:	n/a	n/a
28	EGR1	chr8:105600505-105600710	GM12878	blood:	n/a	chr8:105600629-105600639 chr8:105600624-105600637 chr8:105600624-105600637 chr8:105600658-105600672 chr8:105600660-105600669 chr8:105600625-105600639 chr8:105600624-105600637 chr8:105600623-105600638 chr8:105600660-105600670 chr8:105600657-105600670
29	RUNX3	chr8:105600256-105600729	GM12878	blood:	n/a	n/a
30	RUNX3	chr8:105600095-105600718	GM12878	blood:	n/a	n/a
31	EGR1	chr8:105600483-105600776	GM12878	blood:	n/a	chr8:105600629-105600639 chr8:105600624-105600637 chr8:105600624-105600637 chr8:105600658-105600672 chr8:105600660-105600669 chr8:105600625-105600639 chr8:105600624-105600637 chr8:105600623-105600638 chr8:105600660-105600670 chr8:105600657-105600670
32	POLR2A	chr8:105596596-105602930	K562	blood:	n/a	n/a
33	E2F4	chr8:105600399-105602092	K562	blood:	n/a	chr8:105601463-105601473 chr8:105601485-105601499 chr8:105601488-105601502 chr8:105600629-105600638
34	HMGN3	chr8:105600276-105602042	K562	blood:	n/a	n/a
35	POLR2A	chr8:105600508-105600584	MCF-7	breast:	n/a	n/a
36	MYC	chr8:105600492-105600578	MCF10A-Er-Src	breast:	n/a	n/a
37	MAZ	chr8:105599837-105602298	IMR90	lung:	n/a	chr8:105600627-105600637 chr8:105601356-105601365
38	SIN3A	chr8:105600223-105602305	H1-hESC	embryonic stem cell:	n/a	chr8:105602050-105602063
39	HCFC1	chr8:105600489-105600618	K562	blood:	n/a	n/a
40	MAX	chr8:105600341-105600540	GM12878	blood:	n/a	n/a
41	POLR2A	chr8:105600414-105602124	GM18505	blood:	n/a	n/a
42	CHD2	chr8:105600365-105600639	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr8:105600274-105602135	GM18951	blood:	n/a	n/a
44	POLR2A	chr8:105600315-105602882	K562	blood:	n/a	n/a
45	MYC	chr8:105600309-105600605	K562	blood:	n/a	n/a
46	JUND	chr8:105600283-105600595	K562	blood:	n/a	n/a
47	UBTF	chr8:105600006-105602351	K562	blood:	n/a	n/a
48	MAX	chr8:105600243-105602207	A549	lung:	n/a	chr8:105600627-105600637 chr8:105601356-105601365
49	CTBP2	chr8:105600348-105601777	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr8:105600432-105601803	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105599361..105601982-chr8:105602248..105604776,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253350	TF binding region
ENSG00000253350	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3369954	chr8:105600126-105602924	Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105598600-105602400	Active TSS	GM12878-XiMat	blood
2	chr8:105598800-105600600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:105598800-105602000	Active TSS	Brain Anterior Caudate	brain
4	chr8:105598800-105602000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr8:105599000-105602000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:105599200-105602000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:105599200-105602400	Active TSS	Right Atrium	heart
8	chr8:105599200-105602400	Active TSS	Right Ventricle	heart
9	chr8:105599400-105600600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:105599400-105600600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:105599400-105601000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr8:105599400-105602200	Active TSS	Left Ventricle	heart
13	chr8:105599600-105600600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr8:105599600-105600800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:105599600-105601800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr8:105599600-105602400	Active TSS	Colonic Mucosa	Colon
17	chr8:105599800-105600600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:105599800-105600600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr8:105599800-105601800	Active TSS	Fetal Brain Female	brain
20	chr8:105599800-105602000	Active TSS	Brain Angular Gyrus	brain
21	chr8:105599800-105602000	Active TSS	Brain Cingulate Gyrus	brain
22	chr8:105599800-105602200	Active TSS	Fetal Kidney	kidney
23	chr8:105599800-105602400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr8:105599800-105602400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr8:105599800-105602400	Active TSS	HSMMtube	muscle
26	chr8:105600000-105600600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:105600000-105600600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:105600000-105600600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr8:105600000-105600600	Flanking Active TSS	Hela-S3	cervix
30	chr8:105600000-105601200	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr8:105600000-105601400	Active TSS	Fetal Brain Male	brain
32	chr8:105600000-105601800	Active TSS	H1 Cell Line	embryonic stem cell
33	chr8:105600000-105601800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:105600000-105601800	Active TSS	Fetal Intestine Small	intestine
35	chr8:105600000-105601800	Active TSS	Fetal Muscle Trunk	muscle
36	chr8:105600000-105601800	Active TSS	K562	blood
37	chr8:105600000-105601800	Active TSS	NH-A	brain
38	chr8:105600000-105602000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:105600000-105602000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:105600000-105602000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:105600000-105602000	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr8:105600000-105602000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr8:105600000-105602200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:105600000-105602200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:105600000-105602200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:105600000-105602400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:105600000-105602400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:105600000-105602400	Active TSS	Aorta	Aorta
49	chr8:105600000-105602400	Active TSS	Brain Substantia Nigra	brain
50	chr8:105600000-105602400	Active TSS	Pancreatic Islets	Pancreatic Islet

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