Variant report

Variant	rs62260850
Chromosome Location	chr3:48101802-48101803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48098371..48102130-chr3:48128885..48131500,4	K562	blood:

Variant related genes	Relation type
ENSG00000047849	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs3731544	1.00[ASN][1000 genomes]
rs3731553	1.00[ASN][1000 genomes]
rs62260762	1.00[ASN][1000 genomes]
rs62260779	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62260785	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62260788	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62260855	1.00[ASN][1000 genomes]
rs62263023	1.00[ASN][1000 genomes]
rs62263027	1.00[ASN][1000 genomes]
rs62263577	1.00[ASN][1000 genomes]
rs7638388	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1835684	chr3:47912703-48123540	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv1012828	chr3:47996472-48192862	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv876760	chr3:48019258-48197614	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv834681	chr3:48032000-48181775	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1004557	chr3:48056534-48256694	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48051200-48128000	Weak transcription	Primary B cells from cord blood	blood
2	chr3:48059600-48128800	Weak transcription	Primary T cells from cord blood	blood
3	chr3:48064400-48128800	Weak transcription	Esophagus	oesophagus
4	chr3:48074800-48105400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:48075800-48102600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:48081400-48110600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:48081400-48128400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:48081600-48105800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:48081800-48128400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:48082000-48105600	Weak transcription	Small Intestine	intestine
11	chr3:48082200-48105800	Weak transcription	Right Ventricle	heart
12	chr3:48082200-48115000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr3:48084000-48111800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:48089200-48104600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:48089400-48128400	Weak transcription	Thymus	Thymus
16	chr3:48089400-48128600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:48089600-48128400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr3:48089800-48128200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:48089800-48128800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr3:48090000-48105400	Weak transcription	NHEK	skin
21	chr3:48091000-48105200	Weak transcription	HSMMtube	muscle
22	chr3:48091000-48106200	Weak transcription	HUVEC	blood vessel
23	chr3:48091000-48110200	Weak transcription	HepG2	liver
24	chr3:48091200-48102400	Weak transcription	Fetal Thymus	thymus
25	chr3:48091200-48110000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr3:48091200-48110600	Weak transcription	Liver	Liver
27	chr3:48091200-48110800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:48091400-48111400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr3:48091400-48112400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:48092400-48111000	Weak transcription	Fetal Stomach	stomach
31	chr3:48092600-48110800	Weak transcription	Fetal Lung	lung
32	chr3:48092800-48102800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:48093800-48128400	Weak transcription	Spleen	Spleen
34	chr3:48094400-48105600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:48094400-48105800	Weak transcription	Fetal Kidney	kidney
36	chr3:48095000-48128400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr3:48095200-48110200	Weak transcription	Hela-S3	cervix
38	chr3:48095400-48105600	Weak transcription	Brain Angular Gyrus	brain
39	chr3:48096600-48110800	Weak transcription	Fetal Muscle Leg	muscle
40	chr3:48096600-48126000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:48096800-48102000	Weak transcription	Fetal Intestine Small	intestine
42	chr3:48096800-48104600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:48099200-48102200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:48100000-48104200	Weak transcription	Dnd41	blood
45	chr3:48100000-48106000	Weak transcription	Aorta	Aorta
46	chr3:48100200-48104600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:48100200-48104800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:48100200-48104800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:48100200-48105200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:48100200-48105400	Weak transcription	NH-A	brain

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