Variant report

Variant	rs2285412
Chromosome Location	chr19:36109312-36109313
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	chr19:36108916-36109698	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36034536..36038196-chr19:36108033..36110184,3	MCF-7	breast:
2	chr19:36036052..36039030-chr19:36108964..36111684,2	MCF-7	breast:
3	chr19:36108327..36112195-chr19:36132084..36135351,3	MCF-7	breast:

Variant related genes	Relation type
HAUS5	TF binding region
ENSG00000105677	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000105672	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2285418	0.89[ASN][1000 genomes]
rs56185035	0.84[ASN][1000 genomes]
rs57095084	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59328743	0.87[AMR][1000 genomes];0.89[ASN][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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36104200-36118800	Weak transcription	Left Ventricle	heart
2	chr19:36104200-36119000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:36104200-36119000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:36104200-36119000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:36104200-36119000	Weak transcription	Colonic Mucosa	Colon
6	chr19:36104200-36119000	Weak transcription	Psoas Muscle	Psoas
7	chr19:36104200-36119000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr19:36104200-36119000	Weak transcription	HSMMtube	muscle
9	chr19:36104200-36119200	Weak transcription	Aorta	Aorta
10	chr19:36104400-36111000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr19:36104400-36118800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:36104400-36118800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr19:36104400-36118800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr19:36104400-36118800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr19:36104400-36119000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:36104400-36119000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr19:36104400-36119000	Weak transcription	Colon Smooth Muscle	Colon
18	chr19:36104400-36119000	Weak transcription	Small Intestine	intestine
19	chr19:36104400-36119000	Weak transcription	HSMM	muscle
20	chr19:36104400-36119000	Weak transcription	HUVEC	blood vessel
21	chr19:36104400-36119000	Weak transcription	NHDF-Ad	bronchial
22	chr19:36104400-36119000	Weak transcription	Osteobl	bone
23	chr19:36104400-36119200	Weak transcription	NH-A	brain
24	chr19:36104600-36110600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:36104600-36111200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:36104600-36114200	Strong transcription	Fetal Intestine Small	intestine
27	chr19:36104800-36113800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr19:36104800-36114000	Strong transcription	Fetal Stomach	stomach
29	chr19:36104800-36119000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:36104800-36119000	Weak transcription	K562	blood
31	chr19:36104800-36119200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr19:36104800-36119200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:36105000-36111200	Weak transcription	Hela-S3	cervix
34	chr19:36105000-36114800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:36105000-36114800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr19:36105000-36114800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr19:36105000-36114800	Strong transcription	Fetal Muscle Leg	muscle
38	chr19:36105200-36109400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr19:36105200-36112200	Strong transcription	Dnd41	blood
40	chr19:36105200-36114000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:36105400-36112200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:36105400-36115000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:36105600-36112200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr19:36105600-36113000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:36105600-36113200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:36105600-36113400	Strong transcription	Brain Hippocampus Middle	brain
47	chr19:36105600-36114200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:36105600-36114400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr19:36105600-36114400	Strong transcription	Thymus	Thymus
50	chr19:36105800-36111800	Strong transcription	Lung	lung

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