Variant report

Variant	rs4803331
Chromosome Location	chr19:40888207-40888208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40886633..40888695-chr19:40900578..40902251,2	K562	blood:
2	chr19:40883373..40885815-chr19:40885950..40888263,2	K562	blood:
3	chr19:40878611..40882541-chr19:40884534..40888641,8	K562	blood:

Variant related genes	Relation type
ENSG00000105223	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12978012	0.83[ASN][1000 genomes]
rs1968359	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803329	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803334	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6508938	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
7	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40872800-40904400	Weak transcription	Right Atrium	heart
2	chr19:40873800-40890800	Weak transcription	Fetal Heart	heart
3	chr19:40874600-40890200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr19:40879000-40889000	Weak transcription	K562	blood
5	chr19:40879000-40898600	Weak transcription	NHEK	skin
6	chr19:40880600-40889000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr19:40880800-40889000	Weak transcription	HSMM	muscle
8	chr19:40880800-40890800	Weak transcription	HSMMtube	muscle
9	chr19:40881200-40888400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:40884800-40889000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:40884800-40889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:40884800-40891000	Weak transcription	A549	lung
13	chr19:40885000-40888400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:40885000-40888600	Weak transcription	Left Ventricle	heart
15	chr19:40885000-40889600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr19:40885000-40889600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr19:40885000-40889800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr19:40885000-40890800	Weak transcription	HepG2	liver
19	chr19:40885000-40904400	Weak transcription	Fetal Lung	lung
20	chr19:40885000-40909200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:40885000-40909200	Weak transcription	Aorta	Aorta
22	chr19:40885200-40888600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr19:40885200-40888600	Weak transcription	Thymus	Thymus
24	chr19:40885200-40889800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:40885200-40890800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:40885200-40892800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr19:40885200-40893600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr19:40885200-40904200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:40885400-40888800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:40885400-40889400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:40885400-40889600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr19:40885400-40894200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:40885400-40909600	Weak transcription	Pancreas	Pancrea
34	chr19:40885600-40889200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr19:40885600-40889800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr19:40885600-40898000	Weak transcription	Esophagus	oesophagus
37	chr19:40885800-40888600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr19:40885800-40889600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr19:40885800-40889600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr19:40885800-40893800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr19:40886000-40888600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:40886200-40889600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:40886400-40888600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:40886400-40890800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:40886600-40890000	Weak transcription	Brain Hippocampus Middle	brain
46	chr19:40886600-40894800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:40886800-40889600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:40886800-40889600	Weak transcription	Placenta	Placenta
49	chr19:40886800-40889800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr19:40886800-40893800	Weak transcription	Monocytes-CD14+_RO01746	blood

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