Variant report

Variant	rs6764049
Chromosome Location	chr3:100028530-100028531
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100025975..100027495-chr3:100028149..100030594,2	K562	blood:
2	chr3:100028055..100030985-chr3:100033562..100035291,2	K562	blood:

Variant related genes	Relation type
ENSG00000036054	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16842034	0.87[AFR][1000 genomes]
rs6768684	1.00[AFR][1000 genomes]
rs6809618	0.86[AFR][1000 genomes]
rs7615654	1.00[AFR][1000 genomes]
rs7618395	0.85[AFR][1000 genomes]
rs7652596	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1003924	chr3:99933762-100112690	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv869690	chr3:99984442-100054949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99980600-100037200	Weak transcription	Spleen	Spleen
2	chr3:99980600-100053200	Weak transcription	Gastric	stomach
3	chr3:99981200-100030800	Weak transcription	Fetal Heart	heart
4	chr3:99990600-100030600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:99994400-100040800	Weak transcription	Esophagus	oesophagus
6	chr3:99996000-100052800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:99996000-100053000	Weak transcription	Small Intestine	intestine
8	chr3:99997800-100031800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr3:99998600-100033800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:100007000-100045000	Weak transcription	Lung	lung
11	chr3:100007800-100035800	Weak transcription	A549	lung
12	chr3:100008600-100053000	Weak transcription	Aorta	Aorta
13	chr3:100009200-100045000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr3:100009400-100031800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr3:100014400-100030000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:100014600-100042200	Weak transcription	Fetal Brain Male	brain
17	chr3:100014800-100029400	Strong transcription	Liver	Liver
18	chr3:100015400-100053200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:100017000-100029800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:100017200-100028600	Strong transcription	NHDF-Ad	bronchial
21	chr3:100018200-100028800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:100018800-100035800	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:100019000-100043200	Weak transcription	Brain Angular Gyrus	brain
24	chr3:100019200-100038200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:100019600-100053000	Weak transcription	Colonic Mucosa	Colon
26	chr3:100019800-100028800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:100019800-100034000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:100020000-100038600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:100020600-100033600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:100020600-100053000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr3:100020600-100053000	Weak transcription	Hela-S3	cervix
32	chr3:100021200-100035600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr3:100021200-100036000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr3:100021800-100033400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:100021800-100052800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:100021800-100053000	Weak transcription	Psoas Muscle	Psoas
37	chr3:100022000-100028600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:100022000-100047600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:100022000-100052800	Weak transcription	Pancreas	Pancrea
40	chr3:100022600-100029000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:100022800-100031000	Strong transcription	Placenta	Placenta
42	chr3:100023400-100031200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr3:100023600-100028800	Strong transcription	Osteobl	bone
44	chr3:100023800-100031000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:100025000-100031800	Strong transcription	Fetal Intestine Large	intestine
46	chr3:100025400-100029800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:100025800-100028800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:100025800-100038800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr3:100025800-100053000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr3:100025800-100053000	Weak transcription	Right Ventricle	heart

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