Variant report

Variant	rs62268123
Chromosome Location	chr3:75819086-75819087
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs28863851	0.82[EUR][1000 genomes]
rs35950033	0.84[ASN][1000 genomes]
rs4974313	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4974324	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4974335	0.86[ASN][1000 genomes]
rs4974338	0.89[ASN][1000 genomes]
rs4974339	0.84[ASN][1000 genomes]
rs56032654	0.83[EUR][1000 genomes]
rs59018221	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60603401	0.80[EUR][1000 genomes]
rs62266768	0.89[ASN][1000 genomes]
rs62268119	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62268126	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62268128	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62268130	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62268131	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62268133	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62269667	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62269672	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62269678	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6549788	0.87[ASN][1000 genomes]
rs6783069	0.87[ASN][1000 genomes]
rs6784600	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6785582	0.89[ASN][1000 genomes]
rs6789355	0.81[AFR][1000 genomes]
rs7427663	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7431564	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7433487	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7613110	0.81[EUR][1000 genomes]
rs7624584	0.82[EUR][1000 genomes]
rs7626593	0.81[EUR][1000 genomes]
rs7645249	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997253	chr3:75168497-76021627	Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
2	esv2422315	chr3:75250088-75853296	Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
3	nsv428086	chr3:75346159-75914792	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	nsv529016	chr3:75361506-75836858	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
5	esv2756999	chr3:75392078-76003036	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
6	nsv1005724	chr3:75396818-75881261	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
7	nsv998082	chr3:75439781-75823559	ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
8	nsv1014162	chr3:75439781-75892941	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
9	esv1808663	chr3:75466176-75902476	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
10	nsv590701	chr3:75481114-75912373	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
11	nsv999953	chr3:75507382-75881261	Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
12	nsv999731	chr3:75507382-75894520	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
13	nsv1012001	chr3:75508542-75826174	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
14	esv2754992	chr3:75545172-75913502	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
15	nsv590711	chr3:75568433-75918869	Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
16	nsv876983	chr3:75572199-76024339	Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
17	nsv428418	chr3:75615943-75973574	Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
18	esv2757875	chr3:75617595-76077290	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
19	nsv876987	chr3:75682878-75826472	Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
20	esv1843910	chr3:75700895-75828813	ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
21	esv2754135	chr3:75713010-76016610	Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
22	esv1800286	chr3:75714484-75879921	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
23	nsv876988	chr3:75720611-75923055	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
24	esv1818689	chr3:75726925-75913502	ZNF genes & repeats Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
25	esv1799243	chr3:75749587-75919847	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
26	esv1801073	chr3:75762756-75826473	ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
27	nsv822140	chr3:75765583-75875410	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
28	esv1824751	chr3:75770912-75914311	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
29	nsv471427	chr3:75786029-75834255	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
30	esv1818962	chr3:75793105-75887660	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	esv1815438	chr3:75793105-75913097	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	esv1818295	chr3:75793305-75918025	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	nsv876989	chr3:75800666-76029306	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
34	nsv876990	chr3:75800666-76051624	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
35	nsv876991	chr3:75800666-76059499	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
36	nsv967113	chr3:75817123-75834878	Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75796800-75832800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:75805400-75819800	Weak transcription	HSMMtube	muscle
3	chr3:75805400-75830000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:75808800-75820600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:75810400-75823000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr3:75811400-75823000	ZNF genes & repeats	Liver	Liver
7	chr3:75812200-75825800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr3:75813000-75823200	ZNF genes & repeats	Fetal Intestine Large	intestine
9	chr3:75813800-75820200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:75814000-75820600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:75815000-75820800	Weak transcription	Brain Angular Gyrus	brain
12	chr3:75816200-75822400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr3:75816200-75823200	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr3:75816400-75820600	Weak transcription	Colon Smooth Muscle	Colon
15	chr3:75816400-75820800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:75816600-75820600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:75816800-75820600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:75816800-75820800	Weak transcription	Brain Substantia Nigra	brain
19	chr3:75817000-75820600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:75817000-75825600	Weak transcription	K562	blood
21	chr3:75817400-75819400	Strong transcription	Primary T cells from cord blood	blood
22	chr3:75817400-75820200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:75817400-75820600	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:75817600-75819200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:75817600-75821400	ZNF genes & repeats	GM12878-XiMat	blood
26	chr3:75817600-75821600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
27	chr3:75817600-75821600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr3:75817800-75819400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr3:75817800-75820200	Weak transcription	Fetal Lung	lung
30	chr3:75817800-75821000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr3:75817800-75822200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr3:75818200-75821200	Weak transcription	NHLF	lung
33	chr3:75818400-75819200	Weak transcription	Primary B cells from cord blood	blood
34	chr3:75818400-75833800	Weak transcription	Right Ventricle	heart
35	chr3:75818600-75819200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:75818600-75819400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:75818600-75819800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:75818600-75819800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr3:75818600-75819800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr3:75818600-75819800	Weak transcription	Left Ventricle	heart
41	chr3:75818600-75819800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr3:75818600-75820000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr3:75818600-75820000	Weak transcription	Ovary	ovary
44	chr3:75818600-75820000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr3:75818600-75820000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr3:75818600-75820000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr3:75818600-75820200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr3:75818600-75820200	Weak transcription	Adipose Nuclei	Adipose
49	chr3:75818600-75820200	Weak transcription	Esophagus	oesophagus
50	chr3:75818600-75820200	Weak transcription	Rectal Mucosa Donor 29	rectum

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