Variant report

Variant	rs61076760
Chromosome Location	chr3:142137849-142137850
allele	A/C
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	chr3:142137758-142138172	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
XRN1	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16852327	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4462984	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55712145	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55720941	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55810370	0.88[AFR][1000 genomes]
rs56044159	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56791995	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58286086	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58978582	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59954506	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60153076	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61265290	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6440079	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6440080	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6440081	0.85[AFR][1000 genomes]
rs6796807	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6797767	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73864538	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73864539	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73864541	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73867022	1.00[AMR][1000 genomes]
rs73867024	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73867035	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73867040	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73867041	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7618139	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv522549	chr3:141812759-142164735	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
3	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv523945	chr3:141933649-142219542	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1000083	chr3:141956718-142172666	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv877557	chr3:142090402-142150204	Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv523596	chr3:142132749-142164735	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142076800-142138200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:142083600-142158600	Weak transcription	NHEK	skin
3	chr3:142105000-142151800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr3:142106800-142150800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:142109200-142141800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:142112200-142145000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:142112200-142145400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:142112200-142151600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:142112200-142152000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:142112200-142152200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr3:142112200-142154600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr3:142112400-142142400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr3:142112400-142146600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:142112600-142141600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:142112600-142150600	Strong transcription	Placenta	Placenta
16	chr3:142112800-142142800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:142113000-142152200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr3:142113400-142151800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:142113400-142151800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:142114800-142151800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:142115800-142138000	Weak transcription	Esophagus	oesophagus
22	chr3:142116400-142141800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr3:142117600-142138200	Weak transcription	Pancreas	Pancrea
24	chr3:142118800-142142400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:142119000-142143400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr3:142119800-142142200	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:142120200-142145000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr3:142120400-142142400	Strong transcription	Adipose Nuclei	Adipose
29	chr3:142120400-142151800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr3:142120600-142138000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:142120600-142151800	Strong transcription	Dnd41	blood
32	chr3:142121200-142142600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:142121400-142140000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:142122400-142142800	Strong transcription	GM12878-XiMat	blood
35	chr3:142125000-142151800	Strong transcription	Fetal Thymus	thymus
36	chr3:142125400-142138400	Strong transcription	Brain Hippocampus Middle	brain
37	chr3:142125800-142144600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:142126000-142148600	Weak transcription	Fetal Brain Male	brain
39	chr3:142126800-142138200	Strong transcription	HSMM	muscle
40	chr3:142127000-142152000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:142127200-142149200	Weak transcription	Gastric	stomach
42	chr3:142127200-142152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:142127400-142138000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr3:142127400-142148400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:142127400-142159600	Weak transcription	Psoas Muscle	Psoas
46	chr3:142127800-142149400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:142128400-142138000	Weak transcription	HepG2	liver
48	chr3:142129800-142148800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr3:142130200-142142000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr3:142130600-142140400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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