Variant report

Variant	rs8108039
Chromosome Location	chr19:39394915-39394916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39388731..39393423-chr19:39394024..39400037,10	K562	blood:
2	chr19:39337724..39340689-chr19:39393839..39396661,3	K562	blood:
3	chr19:39394310..39397205-chr19:39405071..39408067,2	K562	blood:
4	chr19:39394709..39398675-chr19:39410709..39413256,3	K562	blood:
5	chr19:39394465..39398073-chr19:39398218..39402853,5	MCF-7	breast:
6	chr19:39217426..39220275-chr19:39394811..39396577,2	K562	blood:
7	chr19:39391259..39393276-chr19:39393440..39395044,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104824	Chromatin interaction
ENSG00000262484	Chromatin interaction
ENSG00000104835	Chromatin interaction
ENSG00000104825	Chromatin interaction
ENSG00000068903	Chromatin interaction
ENSG00000130402	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11083484	0.87[ASN][1000 genomes]
rs11879872	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2053071	0.86[ASN][1000 genomes]
rs2241705	0.95[CHB][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3136641	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	esv1798153	chr19:39338663-39399277	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv911674	chr19:39391547-39398631	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv911675	chr19:39394271-39398631	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39391000-39395000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:39391000-39395800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:39391200-39395000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr19:39391200-39395200	Weak transcription	Pancreas	Pancrea
5	chr19:39391200-39395400	Weak transcription	Aorta	Aorta
6	chr19:39391200-39395400	Weak transcription	Esophagus	oesophagus
7	chr19:39391200-39395600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr19:39391200-39420800	Weak transcription	Small Intestine	intestine
9	chr19:39391400-39395200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:39391400-39395600	Weak transcription	Brain Germinal Matrix	brain
11	chr19:39391400-39397400	Weak transcription	Fetal Brain Female	brain
12	chr19:39391400-39397600	Weak transcription	Psoas Muscle	Psoas
13	chr19:39391400-39402200	Weak transcription	Fetal Brain Male	brain
14	chr19:39391600-39395000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr19:39391600-39395000	Weak transcription	NHDF-Ad	bronchial
16	chr19:39391600-39395200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr19:39391600-39395200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr19:39391600-39395200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:39391600-39395200	Weak transcription	Colonic Mucosa	Colon
20	chr19:39391600-39395200	Weak transcription	Ovary	ovary
21	chr19:39391600-39395200	Weak transcription	Right Ventricle	heart
22	chr19:39391600-39397800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:39391600-39414800	Weak transcription	HMEC	breast
24	chr19:39391600-39420600	Weak transcription	Right Atrium	heart
25	chr19:39391800-39395000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:39391800-39395000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr19:39391800-39395000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr19:39391800-39395000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:39391800-39395000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:39391800-39395000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:39391800-39395000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr19:39391800-39395000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr19:39391800-39395000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:39391800-39395000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:39391800-39395200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr19:39391800-39395200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:39391800-39395200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:39391800-39395200	Weak transcription	Brain Substantia Nigra	brain
39	chr19:39391800-39395200	Weak transcription	Colon Smooth Muscle	Colon
40	chr19:39391800-39395200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr19:39391800-39395200	Weak transcription	Thymus	Thymus
42	chr19:39391800-39395400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr19:39391800-39395400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:39391800-39395400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr19:39391800-39395600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:39391800-39395600	Weak transcription	NHLF	lung
47	chr19:39391800-39395800	Weak transcription	Brain Angular Gyrus	brain
48	chr19:39391800-39395800	Weak transcription	HSMMtube	muscle
49	chr19:39391800-39396000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr19:39391800-39396200	Weak transcription	Placenta Amnion	Placenta Amnion

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