Variant report

Variant	rs2720465
Chromosome Location	chr4:104022302-104022303
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:104021693-104022307	SK-N-MC	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:104021157..104023152-chr4:104024263..104027546,3	K562	blood:
2	chr4:103521932..103523756-chr4:104022119..104025012,2	K562	blood:
3	chr4:104022090..104023691-chr4:104028636..104031438,2	K562	blood:
4	chr4:104021157..104023420-chr4:104024206..104027148,2	K562	blood:
5	chr4:103930026..103930930-chr4:104021908..104022769,2	K562	blood:

No data

Variant related genes	Relation type
BDH2	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11734396	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12502620	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12505012	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12506575	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12508128	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17033423	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17217250	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17283278	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2243682	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276974	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2276975	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290943	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2615538	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2615541	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615542	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623062	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623063	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2623069	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623076	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623082	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711888	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711889	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711891	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2711893	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711894	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2711895	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2711896	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711900	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711901	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2720447	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2720449	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2720450	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2720451	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2720452	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2720453	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2720455	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2720456	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2720457	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2720463	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2720467	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2720470	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3816642	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4698879	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55708783	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55777543	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58477215	0.87[EUR][1000 genomes]
rs59355472	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs68023422	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6830082	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6847142	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6847357	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72665085	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72665089	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72666813	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7435875	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7672974	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9760911	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757946	chr4:103780705-104057321	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759270	chr4:103780705-104057321	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3429917	chr4:103915319-104207455	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv830021	chr4:103934454-104100588	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104012400-104028200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:104019800-104030200	Weak transcription	Esophagus	oesophagus
3	chr4:104020000-104026400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:104021000-104026200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:104021000-104026600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:104021000-104027200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:104021000-104027200	Weak transcription	K562	blood
8	chr4:104021000-104028000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:104021000-104028200	Weak transcription	Brain Germinal Matrix	brain
10	chr4:104021000-104028600	Weak transcription	HSMM	muscle
11	chr4:104021000-104029800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:104021000-104031600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:104021000-104031600	Weak transcription	Placenta	Placenta
14	chr4:104021000-104033600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr4:104021000-104049200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:104021000-104049200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:104021000-104056000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:104021000-104058200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:104021000-104063800	Weak transcription	Fetal Stomach	stomach
20	chr4:104021000-104068400	Weak transcription	Fetal Brain Male	brain
21	chr4:104021000-104076400	Weak transcription	Fetal Brain Female	brain
22	chr4:104021000-104089600	Weak transcription	Fetal Heart	heart
23	chr4:104021200-104026400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr4:104021200-104027000	Weak transcription	Fetal Thymus	thymus
25	chr4:104021200-104027200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:104021200-104027200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:104021200-104027200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:104021200-104027200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:104021200-104027200	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:104021200-104027200	Weak transcription	Thymus	Thymus
31	chr4:104021200-104027800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:104021200-104028200	Weak transcription	Primary B cells from cord blood	blood
33	chr4:104021200-104028600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:104021200-104028600	Weak transcription	NHDF-Ad	bronchial
35	chr4:104021200-104028800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:104021200-104028800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr4:104021200-104029800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:104021200-104030200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:104021200-104030400	Weak transcription	Primary T cells from cord blood	blood
40	chr4:104021200-104032400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:104021200-104032600	Weak transcription	Fetal Kidney	kidney
42	chr4:104021200-104032800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:104021200-104045800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:104021200-104076600	Weak transcription	Fetal Intestine Small	intestine
45	chr4:104021200-104100200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr4:104021400-104022400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:104021400-104022600	Weak transcription	Stomach Mucosa	stomach
48	chr4:104021400-104026600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr4:104021400-104026800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr4:104021400-104027200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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