Variant report

Variant	rs74090661
Chromosome Location	chr1:78042787-78042788
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	chr1:78040353..78043003-chr1:78043526..78045480,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55790102	1.00[AFR][1000 genomes]
rs59883033	1.00[AFR][1000 genomes]
rs61553400	1.00[AFR][1000 genomes]
rs74090643	0.86[AFR][1000 genomes]
rs74090646	1.00[AFR][1000 genomes]
rs74090649	1.00[AFR][1000 genomes]
rs74090651	0.86[AFR][1000 genomes]
rs74090654	1.00[AFR][1000 genomes]
rs74090658	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3337461	chr1:78036000-78153859	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78006200-78064400	Weak transcription	Stomach Mucosa	stomach
2	chr1:78023200-78050200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:78023400-78046200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:78023800-78048800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:78024600-78048000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:78024800-78048400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:78024800-78071000	Weak transcription	Gastric	stomach
8	chr1:78025400-78050600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:78026000-78049400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr1:78026400-78048800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:78026800-78049200	Weak transcription	Colonic Mucosa	Colon
12	chr1:78027200-78049800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:78028600-78054600	Weak transcription	Esophagus	oesophagus
14	chr1:78029800-78047800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:78029800-78048000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:78029800-78050600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:78030000-78048800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:78030200-78048200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr1:78030200-78048800	Strong transcription	Fetal Intestine Large	intestine
20	chr1:78030200-78049400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:78030400-78047600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr1:78030400-78050400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:78030600-78047800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:78032000-78047200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:78032000-78049000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:78032000-78062800	Weak transcription	Fetal Heart	heart
27	chr1:78032400-78047000	Weak transcription	Fetal Brain Male	brain
28	chr1:78032600-78046600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:78032600-78070800	Weak transcription	Aorta	Aorta
30	chr1:78032800-78070600	Weak transcription	Small Intestine	intestine
31	chr1:78033000-78057000	Weak transcription	Spleen	Spleen
32	chr1:78033000-78057200	Weak transcription	Psoas Muscle	Psoas
33	chr1:78033200-78043200	Weak transcription	Lung	lung
34	chr1:78033200-78072600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:78033400-78057600	Weak transcription	Right Ventricle	heart
36	chr1:78033400-78069600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:78033600-78044400	Weak transcription	Fetal Kidney	kidney
38	chr1:78033600-78045200	Weak transcription	K562	blood
39	chr1:78033600-78051400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:78033600-78070800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:78034000-78056200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:78034400-78048200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:78034400-78049400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr1:78036400-78052800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr1:78036600-78042800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:78036600-78050200	Strong transcription	NHDF-Ad	bronchial
47	chr1:78036800-78043000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:78036800-78045200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:78036800-78048200	Strong transcription	Liver	Liver
50	chr1:78036800-78049600	Strong transcription	Dnd41	blood

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