Variant report

Variant	rs36003200
Chromosome Location	chr1:78047503-78047504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78046709..78049145-chr1:78443356..78446176,2	MCF-7	breast:
2	chr1:78045948..78048684-chr1:78059547..78061127,2	K562	blood:
3	chr1:78047184..78050090-chr1:78059485..78061127,2	K562	blood:
4	chr1:78046717..78048290-chr1:78080149..78082833,2	K562	blood:
5	chr1:78045237..78047732-chr1:78051169..78053649,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162613	Chromatin interaction
ENSG00000137960	Chromatin interaction
ENSG00000251785	Chromatin interaction
ENSG00000162616	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12740982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12744863	1.00[AFR][1000 genomes]
rs12759796	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34513554	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs34727511	1.00[AFR][1000 genomes]
rs35789311	1.00[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	chr1:78023800-78048800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:78024600-78048000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:78024800-78048400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:78024800-78071000	Weak transcription	Gastric	stomach
7	chr1:78025400-78050600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:78026000-78049400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr1:78026400-78048800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:78026800-78049200	Weak transcription	Colonic Mucosa	Colon
11	chr1:78027200-78049800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:78028600-78054600	Weak transcription	Esophagus	oesophagus
13	chr1:78029800-78047800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:78029800-78048000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:78029800-78050600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:78030000-78048800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:78030200-78048200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr1:78030200-78048800	Strong transcription	Fetal Intestine Large	intestine
19	chr1:78030200-78049400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:78030400-78047600	Strong transcription	Duodenum Mucosa	Duodenum
21	chr1:78030400-78050400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:78030600-78047800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:78032000-78049000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:78032000-78062800	Weak transcription	Fetal Heart	heart
25	chr1:78032600-78070800	Weak transcription	Aorta	Aorta
26	chr1:78032800-78070600	Weak transcription	Small Intestine	intestine
27	chr1:78033000-78057000	Weak transcription	Spleen	Spleen
28	chr1:78033000-78057200	Weak transcription	Psoas Muscle	Psoas
29	chr1:78033200-78072600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:78033400-78057600	Weak transcription	Right Ventricle	heart
31	chr1:78033400-78069600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:78033600-78051400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:78033600-78070800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:78034000-78056200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:78034400-78048200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:78034400-78049400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr1:78036400-78052800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr1:78036600-78050200	Strong transcription	NHDF-Ad	bronchial
39	chr1:78036800-78048200	Strong transcription	Liver	Liver
40	chr1:78036800-78049600	Strong transcription	Dnd41	blood
41	chr1:78037000-78047800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:78037000-78047800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:78037000-78047800	Strong transcription	NH-A	brain
44	chr1:78037000-78048200	Strong transcription	Fetal Thymus	thymus
45	chr1:78037000-78048800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:78037000-78048800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:78037000-78050600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:78037200-78047600	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:78037200-78047800	Strong transcription	HSMM	muscle
50	chr1:78037200-78049000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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