Variant report

Variant	rs34047327
Chromosome Location	chr2:153273911-153273912
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153271973..153274703-chr2:153276491..153278675,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11694392	0.81[EUR][1000 genomes]
rs11696004	0.83[EUR][1000 genomes]
rs13010632	0.89[ASN][1000 genomes]
rs13029407	0.89[ASN][1000 genomes]
rs16831082	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3811576	0.81[EUR][1000 genomes]
rs6708667	0.85[ASN][1000 genomes]
rs6751576	0.85[ASN][1000 genomes]
rs73012774	0.84[EUR][1000 genomes]
rs73012784	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
2	chr2:153264200-153288200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:153264400-153274800	Enhancers	Brain Anterior Caudate	brain
4	chr2:153264400-153278000	Weak transcription	Fetal Kidney	kidney
5	chr2:153264600-153277200	Enhancers	A549	lung
6	chr2:153265200-153274800	Weak transcription	Fetal Brain Male	brain
7	chr2:153265200-153278000	Weak transcription	Fetal Lung	lung
8	chr2:153266000-153278800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:153266200-153279000	Enhancers	Brain Angular Gyrus	brain
10	chr2:153267000-153277000	Weak transcription	NHLF	lung
11	chr2:153267000-153278800	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:153267000-153279200	Enhancers	Brain Substantia Nigra	brain
13	chr2:153268200-153277400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:153268600-153277000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:153268800-153274000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:153269800-153279200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:153270000-153274800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:153270200-153276200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:153270200-153278000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:153270200-153279800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:153270400-153275200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:153270400-153277200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:153270400-153277400	Enhancers	Brain Hippocampus Middle	brain
24	chr2:153270400-153277600	Weak transcription	Small Intestine	intestine
25	chr2:153270400-153277800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:153270600-153279800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:153270800-153276400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:153271000-153274400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:153271000-153279000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:153271200-153274200	Enhancers	Psoas Muscle	Psoas
31	chr2:153271600-153274200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:153271600-153276200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:153271800-153275200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:153272200-153274200	Genic enhancers	NHEK	skin
35	chr2:153272200-153276200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:153272600-153274000	Weak transcription	Ovary	ovary
37	chr2:153272600-153275000	Weak transcription	NH-A	brain
38	chr2:153272600-153276200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:153272600-153277000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:153272600-153277000	Weak transcription	Lung	lung
41	chr2:153272600-153277200	Weak transcription	Right Ventricle	heart
42	chr2:153272600-153277400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:153272600-153277400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:153272600-153277800	Weak transcription	HSMMtube	muscle
45	chr2:153272600-153278400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:153272600-153284800	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:153272600-153285400	Weak transcription	Gastric	stomach
48	chr2:153272800-153274000	Weak transcription	Adipose Nuclei	Adipose
49	chr2:153272800-153275000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:153272800-153275000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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