Variant report

Variant	rs34330586
Chromosome Location	chr3:135800409-135800410
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:135799021..135801256-chr3:135806367..135808131,2	K562	blood:
2	chr3:135800218..135802096-chr3:136469861..136471410,2	K562	blood:
3	chr3:135799168..135801057-chr3:135913883..135915795,2	K562	blood:
4	chr3:135793213..135794869-chr3:135799628..135802469,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174579	Chromatin interaction
ENSG00000118007	Chromatin interaction
ENSG00000273455	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs34894639	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3772390	0.89[ASN][1000 genomes]
rs4678322	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4678361	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61791721	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61791757	0.84[EUR][1000 genomes]
rs6779146	0.83[EUR][1000 genomes]
rs9840812	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9865841	0.85[EUR][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	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv4023	chr3:135772198-135816635	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135755200-135801400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:135761000-135802400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:135765000-135801800	Weak transcription	Esophagus	oesophagus
4	chr3:135768800-135800800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:135770000-135800800	Weak transcription	Fetal Intestine Large	intestine
6	chr3:135771200-135802000	Weak transcription	Brain Germinal Matrix	brain
7	chr3:135771200-135809600	Weak transcription	Gastric	stomach
8	chr3:135774400-135802000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:135775000-135809600	Weak transcription	Fetal Brain Male	brain
10	chr3:135775000-135809600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:135781400-135801600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:135781400-135802000	Weak transcription	Fetal Intestine Small	intestine
13	chr3:135781400-135803000	Weak transcription	Right Ventricle	heart
14	chr3:135784200-135805600	Weak transcription	Stomach Mucosa	stomach
15	chr3:135785600-135801800	Weak transcription	Pancreas	Pancrea
16	chr3:135790200-135801800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:135790200-135801800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:135790200-135801800	Weak transcription	Ovary	ovary
19	chr3:135790200-135802800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:135790200-135830800	Weak transcription	Psoas Muscle	Psoas
21	chr3:135790600-135801400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:135790600-135809600	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:135790800-135801600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:135790800-135801800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:135790800-135801800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:135790800-135801800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:135790800-135801800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:135790800-135802000	Weak transcription	Fetal Kidney	kidney
29	chr3:135790800-135802200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr3:135790800-135802600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:135790800-135803000	Weak transcription	NHEK	skin
32	chr3:135790800-135807000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:135790800-135809400	Weak transcription	Adipose Nuclei	Adipose
34	chr3:135790800-135809600	Weak transcription	Aorta	Aorta
35	chr3:135790800-135809600	Weak transcription	Brain Angular Gyrus	brain
36	chr3:135790800-135809600	Weak transcription	Brain Anterior Caudate	brain
37	chr3:135790800-135809600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr3:135790800-135809600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr3:135791000-135800800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:135791000-135801800	Weak transcription	Brain Hippocampus Middle	brain
41	chr3:135791000-135801800	Weak transcription	Fetal Stomach	stomach
42	chr3:135791200-135802800	Weak transcription	HMEC	breast
43	chr3:135791400-135800800	Weak transcription	Placenta	Placenta
44	chr3:135791400-135801800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:135794400-135806600	Weak transcription	Fetal Heart	heart
46	chr3:135794400-135809600	Weak transcription	NH-A	brain
47	chr3:135795000-135802400	Weak transcription	Fetal Lung	lung
48	chr3:135795000-135803000	Weak transcription	NHLF	lung
49	chr3:135795200-135800800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:135795200-135800800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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