Variant report

Variant	rs61832445
Chromosome Location	chr1:213161831-213161832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:213161038-213162046	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:213161666-213161977	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:213161145-213162162	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:213161679-213162004	H1-hESC	embryonic stem cell:	n/a	n/a
5	GTF2F1	chr1:213161747-213161855	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:213161598-213162309	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:213161546-213164134	K562	blood:	n/a	n/a
8	POLR2A	chr1:213161825-213161933	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:213160941-213162452	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213133878..213135419-chr1:213160390..213162538,2	MCF-7	breast:
2	chr1:213155649..213157570-chr1:213160217..213162394,2	MCF-7	breast:

No data

Variant related genes	Relation type
VASH2	TF binding region
ENSG00000143494	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs12065249	0.95[ASN][1000 genomes]
rs17742003	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs41277160	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41277162	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57140665	1.00[AFR][1000 genomes]
rs57188196	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57352598	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57376645	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57845296	1.00[AFR][1000 genomes]
rs58482452	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58711222	1.00[EUR][1000 genomes]
rs58865439	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59489266	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59635750	1.00[EUR][1000 genomes]
rs59892045	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60194877	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60415266	1.00[EUR][1000 genomes]
rs60727621	1.00[AFR][1000 genomes]
rs61385792	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61832446	1.00[AFR][1000 genomes]
rs61832447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832460	1.00[AFR][1000 genomes]
rs61832461	1.00[AFR][1000 genomes]
rs61832463	1.00[AFR][1000 genomes]
rs61832465	1.00[AFR][1000 genomes]
rs61832467	1.00[AFR][1000 genomes]
rs61832468	1.00[AFR][1000 genomes]
rs61832470	1.00[AFR][1000 genomes]
rs61832471	1.00[AFR][1000 genomes]
rs61834072	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834076	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61834077	1.00[AFR][1000 genomes]
rs61834080	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834082	1.00[ASN][1000 genomes]
rs61834083	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834084	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834086	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834087	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834088	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834089	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834091	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834092	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61834093	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834094	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834096	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834099	1.00[ASN][1000 genomes]
rs61834102	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834103	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834104	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61834105	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61834109	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61834110	1.00[AFR][1000 genomes]
rs61834111	1.00[AFR][1000 genomes]
rs61834117	1.00[AFR][1000 genomes]
rs61834119	1.00[AFR][1000 genomes]
rs61834123	1.00[AFR][1000 genomes]
rs61834126	1.00[AFR][1000 genomes]
rs61834135	1.00[AFR][1000 genomes]
rs61834136	1.00[AFR][1000 genomes]
rs61834137	1.00[AFR][1000 genomes]
rs61834139	1.00[AFR][1000 genomes]
rs61834140	1.00[AFR][1000 genomes]
rs61834141	1.00[AFR][1000 genomes]
rs61834142	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213148400-213165400	Weak transcription	Fetal Kidney	kidney
2	chr1:213150400-213163000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:213151600-213167800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:213151800-213169400	Weak transcription	Colonic Mucosa	Colon
5	chr1:213152600-213162400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:213153400-213173000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:213153600-213163400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:213153800-213168600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:213153800-213170200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:213154000-213164600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:213154000-213165000	Weak transcription	Brain Substantia Nigra	brain
12	chr1:213154200-213167000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:213154400-213167600	Weak transcription	Adipose Nuclei	Adipose
14	chr1:213154400-213178200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:213154600-213170200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:213154600-213187400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:213154800-213167600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:213154800-213177400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:213154800-213178200	Weak transcription	Brain Angular Gyrus	brain
20	chr1:213154800-213188000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:213154800-213188400	Weak transcription	Spleen	Spleen
22	chr1:213155000-213168400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:213155200-213163000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:213155200-213165200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:213155200-213177800	Weak transcription	Right Ventricle	heart
26	chr1:213155400-213163000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:213155400-213163200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:213155400-213165400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:213155400-213166400	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr1:213155400-213178400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:213155600-213162200	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr1:213155600-213162800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:213155600-213162800	Weak transcription	Left Ventricle	heart
34	chr1:213155600-213166400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:213155600-213168200	Weak transcription	Thymus	Thymus
36	chr1:213155600-213168800	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:213155600-213169400	Weak transcription	Lung	lung
38	chr1:213155600-213178400	Weak transcription	Gastric	stomach
39	chr1:213155600-213188000	Weak transcription	Aorta	Aorta
40	chr1:213155600-213188000	Weak transcription	Esophagus	oesophagus
41	chr1:213155800-213168400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:213156000-213162800	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:213156000-213168800	Weak transcription	Right Atrium	heart
44	chr1:213156000-213176800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:213156000-213177200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:213156200-213165000	Weak transcription	Placenta	Placenta
47	chr1:213156200-213165200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:213156200-213168200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:213156200-213168600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:213156200-213187400	Weak transcription	Fetal Brain Male	brain

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