Variant report

Variant	rs34011014
Chromosome Location	chr18:29520879-29520880
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr18:29520731-29520976	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr18:29520743-29520983	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:29518719..29521005-chr18:29521192..29525426,5	MCF-7	breast:
2	chr18:29483369..29487458-chr18:29519948..29522209,3	K562	blood:
3	chr18:29485958..29488048-chr18:29520164..29521790,2	K562	blood:
4	chr18:29520857..29524705-chr18:29670705..29674434,7	K562	blood:
5	chr18:29517111..29520943-chr18:29521139..29523956,5	MCF-7	breast:
6	chr18:29494660..29496304-chr18:29519916..29522258,2	K562	blood:
7	chr18:29520544..29523172-chr18:33708356..33710539,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263823	TF binding region
TRAPPC8	TF binding region
ENSG00000153339	Chromatin interaction
ENSG00000134758	Chromatin interaction
ENSG00000265008	Chromatin interaction
ENSG00000134759	Chromatin interaction
ENSG00000263823	Chromatin interaction
ENSG00000141424	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10153421	0.97[ASN][1000 genomes]
rs12326219	0.97[ASN][1000 genomes]
rs12326244	0.94[ASN][1000 genomes]
rs12327141	0.97[ASN][1000 genomes]
rs12709653	0.97[ASN][1000 genomes]
rs12956638	0.97[ASN][1000 genomes]
rs12957365	0.97[ASN][1000 genomes]
rs12959996	0.97[ASN][1000 genomes]
rs12963424	0.97[ASN][1000 genomes]
rs12963629	0.97[ASN][1000 genomes]
rs12965515	0.97[ASN][1000 genomes]
rs12965893	0.97[ASN][1000 genomes]
rs12967531	0.97[ASN][1000 genomes]
rs12968487	0.97[ASN][1000 genomes]
rs2035418	0.97[ASN][1000 genomes]
rs2291238	0.97[ASN][1000 genomes]
rs28540496	0.97[ASN][1000 genomes]
rs34846731	0.97[ASN][1000 genomes]
rs36062390	0.97[ASN][1000 genomes]
rs4581778	0.97[ASN][1000 genomes]
rs7233820	0.97[ASN][1000 genomes]
rs7244508	0.97[ASN][1000 genomes]
rs73954904	1.00[ASN][1000 genomes]
rs73958215	1.00[ASN][1000 genomes]
rs8084584	0.90[ASN][1000 genomes]
rs8086196	1.00[ASN][1000 genomes]
rs8087104	0.97[ASN][1000 genomes]
rs9675795	0.97[ASN][1000 genomes]
rs9807439	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1067252	chr18:29475073-29583744	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
2	chr18:29478600-29522000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr18:29482400-29522000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:29482600-29521600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr18:29482800-29521600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr18:29484800-29521000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr18:29493000-29521600	Weak transcription	Aorta	Aorta
8	chr18:29493400-29521600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:29496600-29521400	Weak transcription	NHEK	skin
10	chr18:29500600-29521400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr18:29505200-29521800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr18:29506800-29521600	Weak transcription	A549	lung
13	chr18:29509400-29521000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr18:29509600-29522000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr18:29509600-29522000	Weak transcription	Lung	lung
16	chr18:29510200-29521800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:29511200-29521600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr18:29511400-29521000	Weak transcription	Placenta	Placenta
19	chr18:29511400-29521200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr18:29511600-29521400	Weak transcription	NHLF	lung
21	chr18:29511800-29521000	Weak transcription	NH-A	brain
22	chr18:29511800-29521400	Weak transcription	Fetal Kidney	kidney
23	chr18:29511800-29521400	Weak transcription	HSMM	muscle
24	chr18:29511800-29521400	Weak transcription	NHDF-Ad	bronchial
25	chr18:29512000-29521000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr18:29512000-29521000	Weak transcription	HUVEC	blood vessel
27	chr18:29512200-29521000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:29512200-29521000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr18:29512200-29521600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr18:29512200-29521600	Weak transcription	Brain Angular Gyrus	brain
31	chr18:29512200-29521600	Weak transcription	Brain Anterior Caudate	brain
32	chr18:29512400-29522000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr18:29512600-29521000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr18:29512800-29521400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr18:29513800-29521000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr18:29513800-29521400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr18:29516400-29521000	Weak transcription	HMEC	breast
38	chr18:29516400-29521200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr18:29516400-29521400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr18:29516400-29521400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr18:29516400-29521600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr18:29516600-29521200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr18:29516800-29521000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr18:29516800-29521000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr18:29516800-29521200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr18:29516800-29522000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:29516800-29522000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr18:29517400-29521000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr18:29517400-29521200	Weak transcription	Fetal Intestine Large	intestine
50	chr18:29517400-29521400	Weak transcription	Thymus	Thymus

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