Variant report

Variant	rs576544454
Chromosome Location	chr8:64125960-64125961
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	POLR2A	chr8:64125465-64126194	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:64124953-64127754	HepG2	liver:	n/a	n/a
3	BRCA1	chr8:64125924-64126294	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr8:64125513-64126188	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:64125791-64126120	K562	blood:	n/a	n/a
6	CEBPB	chr8:64125885-64126431	A549	lung:	n/a	chr8:64126158-64126169 chr8:64126156-64126169 chr8:64126156-64126167
7	POLR2A	chr8:64125761-64126031	GM12891	blood:	n/a	n/a
8	CEBPB	chr8:64125935-64126350	K562	blood:	n/a	chr8:64126158-64126169 chr8:64126156-64126169 chr8:64126156-64126167
9	POLR2A	chr8:64122869-64133933	K562	blood:	n/a	n/a
10	CEBPB	chr8:64125761-64126468	Hela-S3	cervix:	n/a	chr8:64126158-64126169 chr8:64126156-64126169 chr8:64126156-64126167
11	POLR2A	chr8:64125542-64125981	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:64125840-64126013	K562	blood:	n/a	n/a
13	POLR2A	chr8:64125909-64125967	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:64081105..64082612-chr8:64123501..64126301,2	K562	blood:

Variant related genes	Relation type
ENSG00000261542	TF binding region
ENSG00000185728	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831342	chr8:64084331-64294941	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv890967	chr8:64107847-64454446	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3351271	chr8:64125725-64128511	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64100600-64127000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:64101600-64128000	Weak transcription	Colonic Mucosa	Colon
3	chr8:64101600-64136000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:64103400-64127400	Weak transcription	Thymus	Thymus
5	chr8:64103600-64129800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:64107000-64127200	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:64107000-64132000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:64108600-64132000	Weak transcription	Lung	lung
9	chr8:64108600-64134000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:64109000-64132000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:64113200-64132600	Weak transcription	Aorta	Aorta
12	chr8:64113600-64132600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:64113800-64127200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:64113800-64131800	Weak transcription	Hela-S3	cervix
15	chr8:64114000-64130800	Weak transcription	NHEK	skin
16	chr8:64114600-64129200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:64114600-64131400	Weak transcription	HSMMtube	muscle
18	chr8:64115000-64129000	Weak transcription	Fetal Heart	heart
19	chr8:64117800-64131800	Weak transcription	NHLF	lung
20	chr8:64117800-64133200	Weak transcription	Fetal Stomach	stomach
21	chr8:64118200-64126000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:64118400-64132600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:64118400-64133000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:64118800-64132000	Weak transcription	Small Intestine	intestine
25	chr8:64119000-64132000	Weak transcription	Ovary	ovary
26	chr8:64119000-64132000	Weak transcription	Pancreas	Pancrea
27	chr8:64119000-64132000	Weak transcription	Right Atrium	heart
28	chr8:64119000-64132000	Weak transcription	Spleen	Spleen
29	chr8:64119200-64132600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:64119600-64132800	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:64119600-64138800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr8:64119800-64129200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr8:64120000-64126600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:64120400-64132000	Weak transcription	Adipose Nuclei	Adipose
35	chr8:64120600-64126400	Strong transcription	Dnd41	blood
36	chr8:64120600-64129600	Weak transcription	Brain Anterior Caudate	brain
37	chr8:64120600-64130200	Strong transcription	HSMM	muscle
38	chr8:64120800-64127800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:64121000-64127800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:64121200-64129200	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:64121200-64129800	Weak transcription	Brain Substantia Nigra	brain
42	chr8:64121200-64132000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:64121600-64130600	Weak transcription	Left Ventricle	heart
44	chr8:64121600-64131800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:64121600-64132600	Weak transcription	Psoas Muscle	Psoas
46	chr8:64121800-64127400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:64122000-64126400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:64122000-64128400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:64122000-64132600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr8:64122200-64126200	Strong transcription	Primary T cells fromperipheralblood	blood

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