Variant report

Variant	rs8101913
Chromosome Location	chr19:40029670-40029671
allele	A/C
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39977704..39980525-chr19:40028766..40030427,2	K562	blood:
2	chr19:39923941..39928347-chr19:40027705..40030840,3	MCF-7	breast:
3	chr19:39933642..39937454-chr19:40029470..40032868,6	MCF-7	breast:
4	chr19:39934417..39936200-chr19:40029570..40032204,2	MCF-7	breast:
5	chr19:39901022..39904778-chr19:40029097..40032980,4	MCF-7	breast:
6	chr19:39925083..39928891-chr19:40028576..40030872,3	K562	blood:
7	chr19:39890843..39892874-chr19:40028629..40030722,2	MCF-7	breast:
8	chr19:39880332..39881919-chr19:40028970..40031203,2	K562	blood:
9	chr19:39959218..39961854-chr19:40028748..40031663,2	K562	blood:
10	chr19:40023614..40026391-chr19:40028689..40031990,5	MCF-7	breast:
11	chr19:40019907..40024445-chr19:40029285..40031709,4	MCF-7	breast:
12	chr19:40024943..40026873-chr19:40027805..40030767,4	MCF-7	breast:
13	chr19:39931001..39933171-chr19:40029480..40031756,2	MCF-7	breast:
14	chr19:39925003..39927867-chr19:40028857..40032200,4	K562	blood:
15	chr19:39923771..39928393-chr19:40029138..40032183,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196235	Chromatin interaction
ENSG00000269792	Chromatin interaction
ENSG00000006712	Chromatin interaction
ENSG00000269584	Chromatin interaction
ENSG00000105197	Chromatin interaction
ENSG00000090924	Chromatin interaction
ENSG00000176401	Chromatin interaction
ENSG00000105193	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10403625	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10403763	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10404127	0.85[ASN][1000 genomes]
rs10407315	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10415807	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10418049	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10426230	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1433109	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs16973498	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2010106	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2082483	0.87[ASN][1000 genomes]
rs28411237	0.84[ASN][1000 genomes]
rs28596775	0.93[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs28612323	0.93[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs57386718	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61288778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72480724	0.82[AMR][1000 genomes]
rs7251429	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.92[TSI][hapmap]
rs8100675	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8108805	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv911692	chr19:39979966-40046863	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv911693	chr19:39986241-40033574	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv911694	chr19:40015907-40031369	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8101913	EID2B	cis	lymphoblastoid	seeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40023600-40029800	Weak transcription	Aorta	Aorta
2	chr19:40023600-40029800	Weak transcription	Left Ventricle	heart
3	chr19:40024000-40029800	Weak transcription	Colonic Mucosa	Colon
4	chr19:40024200-40029800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:40028800-40029800	Enhancers	Brain Substantia Nigra	brain
6	chr19:40028800-40030200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:40029000-40029800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr19:40029000-40029800	Flanking Active TSS	GM12878-XiMat	blood
9	chr19:40029000-40030000	Flanking Active TSS	A549	lung
10	chr19:40029000-40030000	Flanking Active TSS	Dnd41	blood
11	chr19:40029000-40030200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr19:40029000-40030200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:40029000-40030600	Active TSS	Right Atrium	heart
14	chr19:40029200-40029800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:40029200-40029800	Enhancers	Primary B cells from peripheral blood	blood
16	chr19:40029200-40029800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr19:40029200-40029800	Enhancers	Fetal Intestine Small	intestine
18	chr19:40029200-40029800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr19:40029200-40029800	Flanking Active TSS	HMEC	breast
20	chr19:40029200-40030000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:40029200-40030000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:40029200-40030200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr19:40029200-40030200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr19:40029200-40030200	Flanking Active TSS	HUVEC	blood vessel
25	chr19:40029200-40031000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:40029200-40031000	Active TSS	Fetal Muscle Leg	muscle
27	chr19:40029200-40031000	Active TSS	Psoas Muscle	Psoas
28	chr19:40029200-40031200	Active TSS	Brain Angular Gyrus	brain
29	chr19:40029200-40031200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr19:40029200-40031200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr19:40029200-40031200	Active TSS	Thymus	Thymus
32	chr19:40029200-40031400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:40029400-40029800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr19:40029400-40029800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr19:40029400-40029800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr19:40029400-40029800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr19:40029400-40029800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr19:40029400-40029800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr19:40029400-40029800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:40029400-40029800	Flanking Active TSS	HSMMtube	muscle
41	chr19:40029400-40029800	Flanking Active TSS	NHEK	skin
42	chr19:40029400-40030000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr19:40029400-40030000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr19:40029400-40030000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:40029400-40030000	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr19:40029400-40030000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr19:40029400-40030200	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr19:40029400-40030200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr19:40029400-40030200	Flanking Active TSS	K562	blood
50	chr19:40029400-40030200	Flanking Active TSS	NH-A	brain

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