Variant report

Variant	rs62248806
Chromosome Location	chr3:42566153-42566154
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	chr3:42564995-42567233	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42564213..42566544-chr3:42567890..42569436,2	K562	blood:

Variant related genes	Relation type
VIPR1	TF binding region
ENSG00000114812	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11713695	1.00[ASN][1000 genomes]
rs1266699	1.00[ASN][1000 genomes]
rs13340160	1.00[ASN][1000 genomes]
rs1442272	1.00[ASN][1000 genomes]
rs182921	0.82[AMR][1000 genomes]
rs247411	1.00[ASN][1000 genomes]
rs2907773	1.00[ASN][1000 genomes]
rs33506	1.00[ASN][1000 genomes]
rs33507	1.00[ASN][1000 genomes]
rs33508	1.00[ASN][1000 genomes]
rs33509	1.00[ASN][1000 genomes]
rs33512	1.00[ASN][1000 genomes]
rs33513	1.00[ASN][1000 genomes]
rs342542	0.82[AMR][1000 genomes]
rs399582	0.80[AMR][1000 genomes]
rs406683	0.86[AMR][1000 genomes]
rs421558	0.82[AMR][1000 genomes]
rs61083637	1.00[ASN][1000 genomes]
rs62248843	1.00[ASN][1000 genomes]
rs62248845	1.00[ASN][1000 genomes]
rs62248848	1.00[ASN][1000 genomes]
rs62257797	1.00[ASN][1000 genomes]
rs673560	0.86[AMR][1000 genomes]
rs735088	1.00[ASN][1000 genomes]
rs7623466	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv1804804	chr3:42515186-42582403	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1814102	chr3:42539966-42582403	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42547600-42579000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:42552200-42581000	Weak transcription	Pancreas	Pancrea
3	chr3:42552400-42570000	Weak transcription	Fetal Stomach	stomach
4	chr3:42553600-42566600	Weak transcription	Primary B cells from cord blood	blood
5	chr3:42557400-42566200	Weak transcription	Brain Anterior Caudate	brain
6	chr3:42557600-42569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:42557600-42571600	Weak transcription	Brain Angular Gyrus	brain
8	chr3:42557600-42574000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:42557600-42574400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:42557800-42586000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:42557800-42590400	Weak transcription	Aorta	Aorta
12	chr3:42558000-42570200	Weak transcription	Adipose Nuclei	Adipose
13	chr3:42558000-42573000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:42558000-42585200	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:42560200-42573400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:42561000-42581000	Weak transcription	Gastric	stomach
17	chr3:42561400-42570400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr3:42561800-42568600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:42562000-42567600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr3:42562200-42566600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:42562400-42566600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:42562400-42567000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr3:42562400-42567600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:42562400-42570800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:42562400-42586800	Weak transcription	Small Intestine	intestine
26	chr3:42562600-42566600	Weak transcription	Esophagus	oesophagus
27	chr3:42562600-42567000	Weak transcription	Placenta	Placenta
28	chr3:42562800-42567200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr3:42562800-42574200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:42563000-42566200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr3:42563000-42566600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:42563000-42572400	Weak transcription	Right Ventricle	heart
33	chr3:42563600-42575000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr3:42564000-42577400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr3:42564400-42566400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:42564400-42566600	Weak transcription	Liver	Liver
37	chr3:42564400-42570600	Genic enhancers	Lung	lung
38	chr3:42564600-42566400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:42564800-42566400	Strong transcription	Fetal Intestine Small	intestine
40	chr3:42564800-42566600	Weak transcription	Fetal Intestine Large	intestine
41	chr3:42565000-42567000	Weak transcription	Primary T cells from cord blood	blood
42	chr3:42565000-42567200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:42565200-42566400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr3:42565200-42576400	Enhancers	Spleen	Spleen
45	chr3:42565600-42567200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr3:42565600-42567800	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr3:42565600-42570400	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:42565800-42566200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr3:42565800-42567400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr3:42565800-42568200	Enhancers	Primary T helper cells PMA-I stimulated	--

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