Variant report

Variant	rs4806208
Chromosome Location	chr19:36280047-36280048
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36248580..36254743-chr19:36274692..36280659,6	K562	blood:
2	chr19:36278394..36281474-chr19:36283077..36286266,3	K562	blood:
3	chr19:36272002..36276478-chr19:36278525..36283309,6	K562	blood:
4	chr19:36277506..36280414-chr19:36281962..36284399,2	MCF-7	breast:
5	chr19:36278394..36281152-chr19:36283077..36286446,4	K562	blood:
6	chr19:36276618..36278741-chr19:36279963..36282089,2	K562	blood:
7	chr19:36273554..36275666-chr19:36279715..36282125,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167595	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000004777	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2234362	0.92[AMR][1000 genomes]
rs34185948	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048513	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic 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	66 gene(s)	inside rSNPs	diseases
4	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
7	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
9	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv911636	chr19:36240960-36290977	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv911637	chr19:36261928-36309321	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36266800-36281800	Weak transcription	Liver	Liver
2	chr19:36267400-36281600	Weak transcription	Small Intestine	intestine
3	chr19:36267800-36280600	Weak transcription	HUVEC	blood vessel
4	chr19:36267800-36284200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:36268400-36284200	Weak transcription	K562	blood
6	chr19:36268600-36281000	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr19:36268600-36281000	Strong transcription	Fetal Stomach	stomach
8	chr19:36271000-36281200	Strong transcription	Brain Germinal Matrix	brain
9	chr19:36271000-36281200	Strong transcription	Fetal Brain Female	brain
10	chr19:36272200-36281000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:36273000-36280600	Weak transcription	Colonic Mucosa	Colon
12	chr19:36273000-36282800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:36273200-36284200	Weak transcription	Osteobl	bone
14	chr19:36273600-36281000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr19:36273600-36281800	Weak transcription	Pancreas	Pancrea
16	chr19:36273600-36283400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr19:36273600-36288000	Weak transcription	Brain Angular Gyrus	brain
18	chr19:36273800-36284000	Weak transcription	Esophagus	oesophagus
19	chr19:36274000-36284000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:36274200-36282600	Weak transcription	Fetal Lung	lung
21	chr19:36274200-36284000	Weak transcription	Brain Anterior Caudate	brain
22	chr19:36274400-36280400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr19:36274600-36284000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr19:36274800-36281400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr19:36277000-36282200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:36277200-36280200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr19:36277200-36281000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr19:36277200-36281800	Weak transcription	Brain Substantia Nigra	brain
29	chr19:36277200-36284400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr19:36277400-36281400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:36277400-36288200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:36277600-36281200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:36277600-36284800	Weak transcription	Gastric	stomach
34	chr19:36277800-36283200	Weak transcription	Fetal Thymus	thymus
35	chr19:36278000-36281600	Weak transcription	HepG2	liver
36	chr19:36278000-36282400	Weak transcription	Fetal Intestine Small	intestine
37	chr19:36278400-36281800	Weak transcription	Dnd41	blood
38	chr19:36278400-36282000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:36278400-36282600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr19:36278400-36288000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr19:36278400-36294400	Weak transcription	Spleen	Spleen
42	chr19:36278600-36280200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:36278600-36281000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:36278600-36281400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr19:36278600-36281800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr19:36278600-36284000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:36278600-36284200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr19:36278600-36284200	Weak transcription	NHLF	lung
49	chr19:36278600-36284600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:36278800-36281000	Weak transcription	Ovary	ovary

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