Variant report

Variant	rs12033315
Chromosome Location	chr1:85928588-85928589
allele	C/T
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	chr1:85928502-85932579	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr1:85928241-85929046	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr1:85928236-85932598	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr1:85928257-85932490	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr1:85928095-85932547	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr1:85928345-85928629	ProgFib	skin:	n/a	n/a
7	POLR2A	chr1:85928551-85928903	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr1:85928110-85932105	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:85920031..85922123-chr1:85928283..85929923,2	K562	blood:
2	chr1:85927983..85931587-chr1:86046693..86050651,4	MCF-7	breast:
3	chr1:85917225..85920485-chr1:85926526..85929082,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273264	TF binding region
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12021849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12022443	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12022538	0.92[EUR][1000 genomes]
rs12023795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12024508	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12029684	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12034206	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12034481	0.89[AMR][1000 genomes]
rs12038279	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12041140	0.89[AMR][1000 genomes]
rs12043604	0.84[EUR][1000 genomes]
rs12046433	0.89[AMR][1000 genomes]
rs12047139	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12049582	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1851782	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28847138	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs485987	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551786	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61164145	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85917400-85929400	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:85917400-85929400	Weak transcription	Gastric	stomach
3	chr1:85917400-85929800	Weak transcription	Esophagus	oesophagus
4	chr1:85917800-85928800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:85920000-85929600	Weak transcription	Brain Substantia Nigra	brain
6	chr1:85920800-85929000	Weak transcription	HSMMtube	muscle
7	chr1:85922600-85929000	Enhancers	Fetal Intestine Small	intestine
8	chr1:85923200-85929800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:85925000-85928600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:85925000-85928800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:85925000-85929200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:85925200-85929400	Weak transcription	Aorta	Aorta
13	chr1:85925400-85929000	Weak transcription	Fetal Stomach	stomach
14	chr1:85925400-85929200	Weak transcription	Adipose Nuclei	Adipose
15	chr1:85925800-85929200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:85926400-85929000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:85926400-85929200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr1:85926400-85929400	Weak transcription	NHEK	skin
19	chr1:85926600-85929400	Weak transcription	Ovary	ovary
20	chr1:85926600-85929400	Weak transcription	HMEC	breast
21	chr1:85926800-85928600	Weak transcription	A549	lung
22	chr1:85926800-85929000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:85926800-85929800	Weak transcription	Placenta	Placenta
24	chr1:85927000-85929200	Flanking Active TSS	HepG2	liver
25	chr1:85927200-85929000	Enhancers	Stomach Mucosa	stomach
26	chr1:85927400-85929000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:85927800-85928600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:85927800-85928600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:85927800-85928600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:85927800-85928600	Enhancers	Pancreas	Pancrea
31	chr1:85927800-85928600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr1:85927800-85929400	Flanking Active TSS	HUVEC	blood vessel
33	chr1:85928000-85928800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:85928000-85928800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:85928000-85928800	Weak transcription	Fetal Kidney	kidney
36	chr1:85928000-85929000	Weak transcription	Hela-S3	cervix
37	chr1:85928000-85929200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:85928000-85929200	Weak transcription	Fetal Lung	lung
39	chr1:85928200-85928800	Flanking Active TSS	Liver	Liver
40	chr1:85928200-85928800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr1:85928200-85928800	Transcr. at gene 5' and 3'	HSMM	muscle
42	chr1:85928200-85928800	Flanking Active TSS	NHDF-Ad	bronchial
43	chr1:85928200-85929000	Weak transcription	Fetal Brain Male	brain
44	chr1:85928200-85929000	Enhancers	Fetal Brain Female	brain
45	chr1:85928200-85929400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr1:85928200-85929600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:85928200-85931000	Active TSS	NHLF	lung
48	chr1:85928400-85928600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr1:85928400-85928600	Enhancers	Brain Germinal Matrix	brain
50	chr1:85928400-85928600	Enhancers	Colonic Mucosa	Colon

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