Variant report

Variant	rs562991921
Chromosome Location	chr8:54934928-54934929
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	RELA	chr8:54934746-54935272	GM18951	blood:	n/a	n/a
2	HDAC2	chr8:54934785-54935159	K562	blood:	n/a	n/a
3	TAL1	chr8:54934783-54935291	K562	blood:	n/a	n/a
4	PML	chr8:54934756-54935313	MCF-7	breast:	n/a	n/a
5	TAF1	chr8:54934750-54935262	Hela-S3	cervix:	n/a	n/a
6	MAX	chr8:54934585-54935425	HCT-116	colon:	n/a	chr8:54935056-54935066
7	HEY1	chr8:54934651-54935297	HepG2	liver:	n/a	n/a
8	NFATC1	chr8:54934790-54935264	GM12878	blood:	n/a	n/a
9	RUNX3	chr8:54934711-54935315	GM12878	blood:	n/a	n/a
10	FOXA2	chr8:54934573-54935235	A549	lung:	n/a	n/a
11	E2F6	chr8:54934787-54935233	A549	lung:	n/a	chr8:54934958-54934969
12	USF1	chr8:54934800-54935112	SK-N-SH_RA	brain:	n/a	n/a
13	MYC	chr8:54934827-54935101	MCF10A-Er-Src	breast:	n/a	chr8:54935056-54935066
14	ZBTB7A	chr8:54934749-54935259	K562	blood:	n/a	n/a
15	POLR2A	chr8:54934402-54935347	A549	lung:	n/a	n/a
16	ELF1	chr8:54934728-54935263	K562	blood:	n/a	chr8:54934999-54935008
17	TAF1	chr8:54934619-54935281	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr8:54934524-54935483	GM12878	blood:	n/a	n/a
19	RFX5	chr8:54934819-54935108	GM12878	blood:	n/a	n/a
20	E2F6	chr8:54934729-54935424	A549	lung:	n/a	chr8:54934958-54934969
21	HEY1	chr8:54934317-54935390	K562	blood:	n/a	n/a
22	POLR2A	chr8:54933961-54935492	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF1	chr8:54934722-54935340	PFSK-1	brain:	n/a	n/a
24	RXRA	chr8:54934669-54934933	GM12878	blood:	n/a	n/a
25	IRF1	chr8:54934759-54935338	K562	blood:	n/a	chr8:54935051-54935065
26	POLR2A	chr8:54934563-54935439	PANC-1	pancreas:	n/a	n/a
27	ATF3	chr8:54934823-54935314	A549	lung:	n/a	chr8:54935070-54935078
28	POLR2A	chr8:54934749-54935429	K562	blood:	n/a	n/a
29	CHD1	chr8:54934923-54935334	H1-hESC	embryonic stem cell:	n/a	n/a
30	ETS1	chr8:54934711-54935319	GM12878	blood:	n/a	chr8:54934997-54935010
31	CREB1	chr8:54934803-54935101	A549	lung:	n/a	n/a
32	CBX3	chr8:54934668-54935419	K562	blood:	n/a	n/a
33	CREB1	chr8:54934728-54935267	A549	lung:	n/a	n/a
34	TAF1	chr8:54934754-54935132	H1-neurons	neurons:	n/a	n/a
35	SRF	chr8:54934744-54935345	MCF-7	breast:	n/a	chr8:54935056-54935066
36	EP300	chr8:54934742-54935247	HepG2	liver:	n/a	n/a
37	USF1	chr8:54934776-54935152	A549	lung:	n/a	n/a
38	SIX5	chr8:54934762-54935145	A549	lung:	n/a	n/a
39	BACH1	chr8:54934843-54935271	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr8:54934322-54935351	MCF10A-Er-Src	breast:	n/a	n/a
41	GABPA	chr8:54934611-54935134	HepG2	liver:	n/a	n/a
42	ZMIZ1	chr8:54934770-54935320	K562	blood:	n/a	n/a
43	EBF1	chr8:54934885-54935251	GM12878	blood:	n/a	n/a
44	REST	chr8:54934846-54935047	GM12878	blood:	n/a	n/a
45	MAX	chr8:54934758-54935412	MCF-7	breast:	n/a	chr8:54935056-54935066
46	POLR2A	chr8:54934761-54935402	HUVEC	blood vessel:	n/a	n/a
47	ELF1	chr8:54934726-54935274	K562	blood:	n/a	chr8:54934999-54935008
48	POLR2A	chr8:54934621-54935324	HUVEC	blood vessel:	n/a	n/a
49	SRF	chr8:54934581-54935417	HCT-116	colon:	n/a	chr8:54935056-54935066
50	SIN3AK20	chr8:54934611-54935394	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:54932312..54937718-chr8:55045869..55049283,5	MCF-7	breast:
2	chr19:35739499..35740331-chr8:54934423..54935259,2	HCT-116	colon:
3	chr8:54929833..54936668-chr8:55008421..55016367,12	K562	blood:
4	chr8:54931365..54936825-chr8:55013053..55016452,9	MCF-7	breast:
5	chr8:54933199..54936694-chr8:55047814..55049965,3	K562	blood:
6	chr8:54933199..54936650-chr8:55046856..55051256,7	K562	blood:
7	chr8:54754942..54758152-chr8:54933404..54936388,3	K562	blood:
8	chr8:54933970..54936104-chr8:55012695..55015394,2	MCF-7	breast:

Variant related genes	Relation type
TCEA1	TF binding region
ENSG00000047249	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000137547	Chromatin interaction
ENSG00000120992	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv3451858	chr8:54933899-54935947	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 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	chr8:54932200-54935600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr8:54932200-54936000	Active TSS	H1 Cell Line	embryonic stem cell
3	chr8:54932400-54935600	Active TSS	Right Atrium	heart
4	chr8:54932400-54935800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:54932400-54936000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr8:54932600-54935600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:54932600-54935600	Active TSS	Ovary	ovary
8	chr8:54932600-54935600	Active TSS	Stomach Smooth Muscle	stomach
9	chr8:54932800-54935200	Active TSS	GM12878-XiMat	blood
10	chr8:54932800-54935400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr8:54932800-54935400	Active TSS	HSMMtube	muscle
12	chr8:54932800-54935600	Active TSS	NH-A	brain
13	chr8:54933000-54935600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:54933000-54935600	Active TSS	Aorta	Aorta
15	chr8:54933000-54935800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr8:54933200-54935200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:54933200-54935400	Active TSS	NHLF	lung
18	chr8:54933200-54935600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:54933200-54935600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:54933200-54935600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr8:54933200-54935600	Active TSS	Muscle Satellite Cultured Cells	--
22	chr8:54933200-54935600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:54933200-54935600	Active TSS	Colonic Mucosa	Colon
24	chr8:54933200-54935600	Active TSS	HSMM	muscle
25	chr8:54933200-54935800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:54933200-54935800	Active TSS	Right Ventricle	heart
27	chr8:54933200-54935800	Active TSS	HMEC	breast
28	chr8:54933200-54936000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:54933400-54935400	Active TSS	Colon Smooth Muscle	Colon
30	chr8:54933400-54935400	Active TSS	Fetal Lung	lung
31	chr8:54933400-54935400	Active TSS	NHDF-Ad	bronchial
32	chr8:54933400-54935600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr8:54933400-54935600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:54933400-54935600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:54933400-54935600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:54933400-54935600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:54933400-54935600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:54933400-54935600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:54933400-54935600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:54933400-54935600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:54933400-54935600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:54933400-54935600	Active TSS	Fetal Intestine Large	intestine
43	chr8:54933400-54935600	Active TSS	Fetal Intestine Small	intestine
44	chr8:54933400-54935600	Active TSS	Fetal Kidney	kidney
45	chr8:54933400-54935600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr8:54933400-54935600	Active TSS	Left Ventricle	heart
47	chr8:54933400-54935600	Active TSS	Pancreas	Pancrea
48	chr8:54933400-54935600	Active TSS	Hela-S3	cervix
49	chr8:54933400-54935800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:54933400-54935800	Active TSS	NHEK	skin

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