Variant report

Variant	rs535648671
Chromosome Location	chr8:95961823-95961824
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	POLR2A	chr8:95961675-95961992	Hela-S3	cervix:	n/a	n/a
2	NFIC	chr8:95961486-95962146	ECC-1	luminal epithelium:	n/a	n/a
3	TAF1	chr8:95961441-95961913	SK-N-SH	brain:	n/a	n/a
4	RAD21	chr8:95961541-95961871	IMR90	lung:	n/a	n/a
5	POLR2A	chr8:95961362-95961975	PANC-1	pancreas:	n/a	n/a
6	BRCA1	chr8:95961774-95962163	HepG2	liver:	n/a	n/a
7	SIN3AK20	chr8:95961435-95961908	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr8:95961418-95963288	HepG2	liver:	n/a	n/a
9	TAF1	chr8:95961403-95962022	SK-N-SH	brain:	n/a	n/a
10	YY1	chr8:95961543-95961996	GM12892	blood:	n/a	chr8:95961863-95961877 chr8:95961894-95961905 chr8:95961866-95961880
11	EP300	chr8:95961236-95962083	ECC-1	luminal epithelium:	n/a	chr8:95961887-95961903
12	TAF1	chr8:95961402-95962236	H1-neurons	neurons:	n/a	n/a
13	GTF2F1	chr8:95961585-95961883	K562	blood:	n/a	n/a
14	POLR2A	chr8:95961456-95961983	K562	blood:	n/a	n/a
15	MAZ	chr8:95960273-95963047	IMR90	lung:	n/a	chr8:95960758-95960768 chr8:95961728-95961739
16	POLR2A	chr8:95961269-95962131	ECC-1	luminal epithelium:	n/a	n/a
17	TCF7L2	chr8:95961362-95961883	HCT-116	colon:	n/a	n/a
18	MAX	chr8:95961360-95962664	A549	lung:	n/a	chr8:95961728-95961739
19	TCF12	chr8:95960270-95962400	MCF-7	breast:	n/a	n/a
20	ZMIZ1	chr8:95961522-95961910	K562	blood:	n/a	n/a
21	MAX	chr8:95961529-95962021	HUVEC	blood vessel:	n/a	chr8:95961728-95961739
22	NFIC	chr8:95961328-95962101	ECC-1	luminal epithelium:	n/a	n/a
23	RCOR1	chr8:95961424-95961923	K562	blood:	n/a	n/a
24	ELF1	chr8:95961305-95962044	GM12878	blood:	n/a	chr8:95961863-95961875
25	CEBPD	chr8:95961668-95961872	HepG2	liver:	n/a	n/a
26	TCF12	chr8:95961422-95962114	A549	lung:	n/a	n/a
27	POU2F2	chr8:95961410-95962060	GM12878	blood:	n/a	chr8:95961472-95961484 chr8:95961863-95961875
28	RFX5	chr8:95961568-95961896	H1-hESC	embryonic stem cell:	n/a	chr8:95961600-95961608
29	HEY1	chr8:95961677-95961905	K562	blood:	n/a	n/a
30	GTF2F1	chr8:95961566-95962582	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPD	chr8:95961444-95961944	HepG2	liver:	n/a	n/a
32	EP300	chr8:95961563-95961881	K562	blood:	n/a	n/a
33	POLR2A	chr8:95961657-95962487	GM12878	blood:	n/a	n/a
34	ZNF143	chr8:95961415-95962162	GM12878	blood:	n/a	chr8:95961820-95961839
35	POLR2A	chr8:95961249-95962107	MCF-7	breast:	n/a	n/a
36	EGR1	chr8:95961558-95961889	K562	blood:	n/a	n/a
37	POLR2A	chr8:95961408-95962049	A549	lung:	n/a	n/a
38	TAF1	chr8:95961648-95962067	A549	lung:	n/a	n/a
39	POLR2A	chr8:95961443-95962146	U87	brain:	n/a	n/a
40	SIN3AK20	chr8:95961384-95961896	K562	blood:	n/a	n/a
41	POLR2A	chr8:95961356-95963137	GM12878	blood:	n/a	n/a
42	USF1	chr8:95961403-95962007	ECC-1	luminal epithelium:	n/a	chr8:95961730-95961739 chr8:95961728-95961739 chr8:95961861-95961877 chr8:95961525-95961541 chr8:95961729-95961738 chr8:95961518-95961534 chr8:95961729-95961738
43	TAF1	chr8:95961368-95962003	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr8:95961348-95961943	A549	lung:	n/a	n/a
45	MAZ	chr8:95961409-95962148	GM12878	blood:	n/a	chr8:95961728-95961739
46	USF1	chr8:95961459-95962083	SK-N-SH_RA	brain:	n/a	chr8:95961730-95961739 chr8:95961728-95961739 chr8:95961861-95961877 chr8:95961525-95961541 chr8:95961729-95961738 chr8:95961518-95961534 chr8:95961729-95961738
47	PML	chr8:95961650-95961935	GM12878	blood:	n/a	n/a
48	CHD2	chr8:95961567-95961907	K562	blood:	n/a	n/a
49	TAF1	chr8:95961369-95962455	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr8:95961363-95962437	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:95918169..95919782-chr8:95960752..95962481,2	MCF-7	breast:
2	chr8:95960086..95962162-chr8:96280907..96282894,2	MCF-7	breast:
3	chr8:95959150..95962570-chr8:95985356..95988577,4	MCF-7	breast:
4	chr8:95960008..95964622-chr8:95970124..95974538,6	MCF-7	breast:
5	chr8:95907370..95909639-chr8:95961818..95964122,3	MCF-7	breast:
6	chr8:95905045..95910108-chr8:95959761..95963234,8	MCF-7	breast:
7	chr8:95956652..95964127-chr8:96035798..96039465,14	MCF-7	breast:
8	chr8:95959784..95963292-chr8:96036254..96039616,3	K562	blood:
9	chr8:95959680..95964310-chr8:96036583..96039456,6	MCF-7	breast:
10	chr8:95913634..95919106-chr8:95960002..95963177,4	MCF-7	breast:
11	chr8:95959198..95962585-chr8:96144089..96147312,4	MCF-7	breast:
12	chr8:95958803..95961918-chr8:96144805..96148535,6	MCF-7	breast:
13	chr8:95961511..95965084-chr8:95968441..95972141,5	K562	blood:

Variant related genes	Relation type
TP53INP1	TF binding region
ENSG00000253878	TF binding region
ENSG00000175305	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000238791	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000253528	Chromatin interaction
ENSG00000253773	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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv3407090	chr8:95960201-95962949	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95957800-95963400	Active TSS	Pancreas	Pancrea
2	chr8:95958000-95962600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr8:95959000-95962200	Active TSS	Rectal Smooth Muscle	rectum
4	chr8:95959400-95962400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:95959400-95962400	Active TSS	Right Atrium	heart
6	chr8:95959800-95962000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:95959800-95962000	Active TSS	Fetal Muscle Trunk	muscle
8	chr8:95959800-95962000	Active TSS	Small Intestine	intestine
9	chr8:95959800-95962200	Active TSS	Lung	lung
10	chr8:95959800-95962200	Active TSS	Sigmoid Colon	Sigmoid Colon
11	chr8:95960000-95962000	Active TSS	Brain Germinal Matrix	brain
12	chr8:95960000-95962000	Active TSS	Right Ventricle	heart
13	chr8:95960000-95962200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:95960000-95962200	Active TSS	Left Ventricle	heart
15	chr8:95960000-95962200	Active TSS	HSMM	muscle
16	chr8:95960200-95962000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:95960200-95962000	Active TSS	GM12878-XiMat	blood
18	chr8:95960200-95962000	Active TSS	NHLF	lung
19	chr8:95960200-95962200	Active TSS	Duodenum Mucosa	Duodenum
20	chr8:95960200-95962400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:95960200-95962400	Active TSS	Liver	Liver
22	chr8:95960200-95962600	Active TSS	Aorta	Aorta
23	chr8:95960200-95962600	Active TSS	HSMMtube	muscle
24	chr8:95960200-95962800	Active TSS	Ovary	ovary
25	chr8:95960400-95962000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:95960400-95962000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:95960400-95962000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:95960400-95962000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:95960400-95962000	Active TSS	Brain Anterior Caudate	brain
30	chr8:95960400-95962000	Active TSS	HUVEC	blood vessel
31	chr8:95960400-95962000	Active TSS	NHDF-Ad	bronchial
32	chr8:95960400-95962200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr8:95960400-95962200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:95960400-95962200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:95960400-95962200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:95960400-95962200	Active TSS	Placenta Amnion	Placenta Amnion
37	chr8:95960400-95962400	Active TSS	H9 Cell Line	embryonic stem cell
38	chr8:95960400-95962400	Active TSS	Colon Smooth Muscle	Colon
39	chr8:95960400-95962600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:95960400-95962600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:95960400-95962600	Active TSS	Brain Angular Gyrus	brain
42	chr8:95960400-95962600	Active TSS	Fetal Kidney	kidney
43	chr8:95960600-95962000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:95960600-95962000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:95960600-95962000	Active TSS	Brain Hippocampus Middle	brain
46	chr8:95960600-95962000	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr8:95960600-95962000	Active TSS	Fetal Intestine Large	intestine
48	chr8:95960600-95962000	Active TSS	Fetal Intestine Small	intestine
49	chr8:95960600-95962000	Active TSS	Spleen	Spleen
50	chr8:95960600-95962000	Active TSS	NH-A	brain

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