Variant report

Variant	rs10413482
Chromosome Location	chr19:39324330-39324331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:39324276-39324733	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:39320432-39324423	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr19:39313168-39344379	PANC-1	pancreas:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39221972..39229243-chr19:39319630..39326763,11	K562	blood:
2	chr19:38805271..38808237-chr19:39322535..39325453,2	K562	blood:
3	chr19:39305126..39308258-chr19:39321941..39324366,4	K562	blood:
4	chr19:39138022..39142840-chr19:39322070..39325450,5	MCF-7	breast:
5	chr19:39224613..39228237-chr19:39319464..39324480,6	MCF-7	breast:
6	chr19:39323028..39324723-chr20:53082309..53085056,2	MCF-7	breast:

No data

Variant related genes	Relation type
ECH1	TF binding region
ENSG00000104823	Chromatin interaction
ENSG00000267892	Chromatin interaction
ENSG00000182472	Chromatin interaction
ENSG00000130402	Chromatin interaction
ENSG00000167645	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10417798	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10853721	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12052164	0.87[ASN][1000 genomes]
rs4499346	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4801905	0.92[EUR][1000 genomes]
rs4801906	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55797435	0.89[EUR][1000 genomes]
rs56359606	0.83[EUR][1000 genomes]
rs57195546	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59983525	0.87[ASN][1000 genomes]
rs60637521	0.93[EUR][1000 genomes]
rs61148075	0.83[EUR][1000 genomes]
rs61747761	0.86[EUR][1000 genomes]
rs73930204	0.89[EUR][1000 genomes]
rs73930206	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73933062	0.82[EUR][1000 genomes]
rs73933065	0.83[EUR][1000 genomes]
rs8111670	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39322400-39331800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39322600-39325400	Weak transcription	Esophagus	oesophagus
3	chr19:39322600-39325600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:39322600-39326200	Weak transcription	Gastric	stomach
5	chr19:39322600-39326400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:39322600-39326600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:39322600-39327400	Weak transcription	Small Intestine	intestine
8	chr19:39322800-39326200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:39322800-39326400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:39323000-39325400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:39323000-39325400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:39323000-39325400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:39323000-39326000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:39323000-39326000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr19:39323000-39326000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:39323000-39326000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr19:39323000-39326000	Enhancers	Placenta	Placenta
18	chr19:39323000-39326200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:39323000-39326200	Weak transcription	Fetal Brain Male	brain
20	chr19:39323000-39326200	Weak transcription	Ovary	ovary
21	chr19:39323000-39327200	Weak transcription	Brain Angular Gyrus	brain
22	chr19:39323000-39334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr19:39323200-39324600	Weak transcription	Fetal Brain Female	brain
24	chr19:39323200-39325200	Weak transcription	Primary T cells from cord blood	blood
25	chr19:39323200-39325400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:39323200-39325400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:39323200-39325400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr19:39323200-39325400	Weak transcription	Fetal Thymus	thymus
29	chr19:39323200-39325400	Weak transcription	Thymus	Thymus
30	chr19:39323200-39325600	Weak transcription	Osteobl	bone
31	chr19:39323200-39326000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr19:39323200-39326000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr19:39323200-39326000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr19:39323200-39326000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr19:39323200-39326000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:39323200-39326000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:39323200-39326000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:39323200-39326000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:39323200-39326000	Weak transcription	Brain Hippocampus Middle	brain
40	chr19:39323200-39326000	Weak transcription	Colon Smooth Muscle	Colon
41	chr19:39323200-39326000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr19:39323200-39326000	Weak transcription	HSMM	muscle
43	chr19:39323200-39326000	Weak transcription	NH-A	brain
44	chr19:39323200-39326200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr19:39323200-39326200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr19:39323200-39326200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:39323200-39326200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr19:39323200-39326200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr19:39323200-39326200	Weak transcription	Brain Germinal Matrix	brain
50	chr19:39323200-39326200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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