Variant report

Variant	rs187908
Chromosome Location	chr19:40940100-40940101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40938553..40942796-chr19:40969208..40973711,7	MCF-7	breast:
2	chr17:26662975..26663552-chr19:40940019..40940728,2	Hela-S3	cervix:
3	chr19:40938395..40940106-chr19:41106590..41108131,2	K562	blood:
4	chr1:151512438..151512949-chr19:40939630..40940591,2	Hela-S3	cervix:
5	chr19:40788353..40791389-chr19:40938421..40941423,3	K562	blood:
6	chr19:40908782..40911420-chr19:40938326..40940378,2	K562	blood:
7	chr19:40925517..40930305-chr19:40937557..40941421,7	K562	blood:
8	chr19:40938756..40941470-chr19:40970077..40971895,2	MCF-7	breast:
9	chr19:40936453..40941399-chr19:40969656..40973199,5	K562	blood:
10	chr19:40917271..40919717-chr19:40938695..40941539,2	K562	blood:
11	chr19:40912486..40915908-chr19:40938150..40940171,3	MCF-7	breast:
12	chr19:40922322..40923864-chr19:40938499..40941441,2	K562	blood:
13	chr19:40908613..40911116-chr19:40938326..40941382,3	K562	blood:
14	chr19:40939900..40942670-chr19:41035347..41037645,2	MCF-7	breast:
15	chr19:40939715..40941549-chr19:40993774..40996681,2	K562	blood:
16	chr19:40937972..40941758-chr19:40943827..40946363,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105227	Chromatin interaction
ENSG00000160460	Chromatin interaction
ENSG00000109079	Chromatin interaction
ENSG00000207631	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000105221	Chromatin interaction
ENSG00000090013	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10402565	1.00[AMR][1000 genomes]
rs10408716	1.00[AMR][1000 genomes]
rs183852	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268658	1.00[AMR][1000 genomes]
rs268660	1.00[AMR][1000 genomes]
rs268661	1.00[AMR][1000 genomes]
rs268665	1.00[AMR][1000 genomes]
rs268667	1.00[AMR][1000 genomes]
rs268675	1.00[AMR][1000 genomes]
rs268681	1.00[AMR][1000 genomes]
rs4150994	1.00[AMR][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	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
3	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
4	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
5	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
6	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
7	nsv911709	chr19:40928944-41060616	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40938400-40940400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:40938600-40940400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:40938600-40941200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:40938800-40940200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:40938800-40940200	Active TSS	Fetal Kidney	kidney
6	chr19:40938800-40940200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr19:40938800-40940400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:40938800-40940400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
9	chr19:40938800-40940400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr19:40939000-40940200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:40939000-40940200	Active TSS	Aorta	Aorta
12	chr19:40939000-40940200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr19:40939000-40940200	Active TSS	Ovary	ovary
14	chr19:40939000-40940200	Active TSS	HSMM	muscle
15	chr19:40939000-40940400	Active TSS	Fetal Brain Female	brain
16	chr19:40939000-40940400	Active TSS	Left Ventricle	heart
17	chr19:40939000-40940400	Active TSS	Psoas Muscle	Psoas
18	chr19:40939000-40940400	Active TSS	Right Ventricle	heart
19	chr19:40939200-40940200	Active TSS	Pancreas	Pancrea
20	chr19:40939200-40940200	Flanking Active TSS	Dnd41	blood
21	chr19:40939200-40940200	Flanking Active TSS	HMEC	breast
22	chr19:40939200-40940400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr19:40939200-40940400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:40939200-40940400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:40939200-40940400	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr19:40939200-40940400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr19:40939200-40940400	Active TSS	Brain Angular Gyrus	brain
28	chr19:40939200-40940400	Active TSS	Brain Substantia Nigra	brain
29	chr19:40939200-40940400	Flanking Active TSS	Fetal Thymus	thymus
30	chr19:40939200-40940400	Active TSS	Lung	lung
31	chr19:40939200-40940400	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr19:40939400-40940200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr19:40939400-40940200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:40939400-40940200	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr19:40939400-40940200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:40939400-40940200	Active TSS	Brain Anterior Caudate	brain
37	chr19:40939400-40940400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr19:40939400-40940400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr19:40939400-40940400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr19:40939400-40940400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr19:40939400-40940400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr19:40939400-40940400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr19:40939400-40940400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr19:40939400-40940400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:40939400-40940400	Active TSS	Brain Hippocampus Middle	brain
46	chr19:40939400-40940400	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr19:40939400-40940400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:40939400-40940400	Active TSS	Colon Smooth Muscle	Colon
49	chr19:40939400-40940400	Active TSS	Esophagus	oesophagus
50	chr19:40939400-40940400	Active TSS	Rectal Smooth Muscle	rectum

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