Variant report

Variant	rs4621102
Chromosome Location	chr19:40505805-40505806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40501200..40503672-chr19:40504713..40507626,3	MCF-7	breast:
2	chr19:40502488..40504735-chr19:40504737..40506651,2	K562	blood:
3	chr19:40474074..40479560-chr19:40500872..40505885,15	K562	blood:
4	chr19:40471803..40479510-chr19:40500414..40506141,13	K562	blood:

Variant related genes	Relation type
ENSG00000187187	Chromatin interaction
ENSG00000013275	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59397913	1.00[AMR][1000 genomes]
rs61730563	1.00[AMR][1000 genomes]
rs73930648	1.00[AMR][1000 genomes]
rs73930649	1.00[AMR][1000 genomes]
rs73930652	1.00[AMR][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	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40503600-40507000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:40503600-40507400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:40503600-40511800	Weak transcription	Ovary	ovary
4	chr19:40503600-40511800	Weak transcription	Spleen	Spleen
5	chr19:40503600-40512000	Weak transcription	Esophagus	oesophagus
6	chr19:40503600-40512400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:40503600-40513000	Weak transcription	Placenta	Placenta
8	chr19:40503600-40514000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:40503600-40519200	Weak transcription	Small Intestine	intestine
10	chr19:40503800-40506800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr19:40503800-40511000	Weak transcription	Right Atrium	heart
12	chr19:40503800-40511400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:40503800-40512000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr19:40503800-40512000	Weak transcription	Lung	lung
15	chr19:40503800-40512200	Weak transcription	Aorta	Aorta
16	chr19:40503800-40512200	Weak transcription	Gastric	stomach
17	chr19:40503800-40512400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr19:40503800-40512400	Weak transcription	Brain Angular Gyrus	brain
19	chr19:40503800-40512800	Weak transcription	Brain Germinal Matrix	brain
20	chr19:40503800-40513000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr19:40503800-40513000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr19:40503800-40513200	Weak transcription	Fetal Intestine Large	intestine
23	chr19:40503800-40513400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr19:40503800-40513400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:40503800-40513400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr19:40503800-40513800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr19:40503800-40513800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:40503800-40513800	Weak transcription	Fetal Stomach	stomach
29	chr19:40503800-40514000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr19:40503800-40514000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:40503800-40514400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:40503800-40514600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr19:40503800-40514600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:40503800-40516000	Weak transcription	Fetal Intestine Small	intestine
35	chr19:40504000-40506000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr19:40504000-40506000	Weak transcription	A549	lung
37	chr19:40504000-40506600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:40504000-40506600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:40504000-40506600	Weak transcription	Liver	Liver
40	chr19:40504000-40510000	Weak transcription	Stomach Mucosa	stomach
41	chr19:40504000-40511000	Weak transcription	Fetal Heart	heart
42	chr19:40504000-40511200	Weak transcription	Right Ventricle	heart
43	chr19:40504000-40511200	Weak transcription	K562	blood
44	chr19:40504000-40511400	Weak transcription	Brain Hippocampus Middle	brain
45	chr19:40504000-40511800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:40504000-40512000	Weak transcription	Primary B cells from cord blood	blood
47	chr19:40504000-40512000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr19:40504000-40512000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr19:40504000-40512000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr19:40504000-40512200	Weak transcription	Primary B cells from peripheral blood	blood

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