Variant report

Variant	rs57762218
Chromosome Location	chr2:85846671-85846672
allele	A/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	chr2:85846261-85846848	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:85846395..85848017-chr2:85935471..85937032,2	K562	blood:
2	chr2:85787807..85789843-chr2:85846542..85848043,2	K562	blood:
3	chr2:85845054..85846904-chr2:85859258..85861801,2	MCF-7	breast:
4	chr2:85764765..85769369-chr2:85840508..85847982,10	K562	blood:

Variant related genes	Relation type
USP39	TF binding region
ENSG00000115486	Chromatin interaction
ENSG00000118640	Chromatin interaction
ENSG00000168906	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs3024803	0.87[AMR][1000 genomes]
rs3024805	0.87[AMR][1000 genomes]
rs3024810	0.87[AMR][1000 genomes]
rs3024811	0.87[AMR][1000 genomes]
rs3024815	1.00[AMR][1000 genomes]
rs3024818	1.00[AMR][1000 genomes]
rs3024819	1.00[AMR][1000 genomes]
rs3024822	1.00[AMR][1000 genomes]
rs3024827	1.00[AMR][1000 genomes]
rs3024828	1.00[AMR][1000 genomes]
rs4416212	0.91[AFR][1000 genomes]
rs57175088	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57789237	0.87[AMR][1000 genomes]
rs59048598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59139634	0.90[AFR][1000 genomes]
rs59227664	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60661938	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60755293	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60801683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61535370	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61536745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6547627	1.00[ASN][1000 genomes]
rs6718028	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72923051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923062	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923064	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923077	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923080	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923082	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7564769	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7579847	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7580358	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7584055	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7589436	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7599812	1.00[AFR][1000 genomes];1.00[AMR][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	nsv874459	chr2:85828014-85939207	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS 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	27 gene(s)	inside rSNPs	diseases
2	nsv874460	chr2:85828014-85941074	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr2:85843800-85846800	Weak transcription	Aorta	Aorta
2	chr2:85843800-85876000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:85844200-85848000	Weak transcription	Right Ventricle	heart
4	chr2:85844400-85850800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:85844600-85848200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:85844800-85847800	Weak transcription	Small Intestine	intestine
7	chr2:85844800-85848200	Weak transcription	Gastric	stomach
8	chr2:85844800-85848400	Weak transcription	Colonic Mucosa	Colon
9	chr2:85844800-85858400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:85844800-85862600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:85844800-85881600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:85845000-85846800	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:85845000-85847200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:85845000-85847600	Weak transcription	Brain Anterior Caudate	brain
15	chr2:85845000-85847600	Weak transcription	Fetal Lung	lung
16	chr2:85845000-85847800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:85845000-85847800	Weak transcription	Brain Angular Gyrus	brain
18	chr2:85845000-85848000	Weak transcription	Esophagus	oesophagus
19	chr2:85845000-85848000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:85845000-85848200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:85845000-85848200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:85845000-85848200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:85845000-85848200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:85845000-85848200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:85845000-85848200	Weak transcription	HMEC	breast
26	chr2:85845000-85848200	Weak transcription	HSMMtube	muscle
27	chr2:85845000-85849200	Weak transcription	Pancreas	Pancrea
28	chr2:85845000-85849800	Weak transcription	Fetal Kidney	kidney
29	chr2:85845000-85850000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:85845000-85850600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:85845000-85850800	Weak transcription	Fetal Heart	heart
32	chr2:85845000-85850800	Weak transcription	Stomach Mucosa	stomach
33	chr2:85845000-85852800	Strong transcription	HSMM	muscle
34	chr2:85845000-85876000	Weak transcription	Right Atrium	heart
35	chr2:85845000-85879800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:85845000-85880000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:85845000-85880800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:85845000-85881400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:85845000-85881800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:85845000-85883600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:85845200-85846800	Genic enhancers	Dnd41	blood
42	chr2:85845200-85847400	Weak transcription	NHLF	lung
43	chr2:85845200-85847800	Weak transcription	Fetal Brain Male	brain
44	chr2:85845200-85855600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr2:85845400-85848200	Weak transcription	Psoas Muscle	Psoas
46	chr2:85845400-85849600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:85845400-85853800	Strong transcription	K562	blood
48	chr2:85845400-85864600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:85845400-85879800	Strong transcription	Lung	lung
50	chr2:85845400-85881000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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