Variant report

Variant	rs34260572
Chromosome Location	chr5:118127045-118127046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118122820..118124504-chr5:118126340..118128643,2	K562	blood:
2	chr5:118034173..118035130-chr5:118126969..118128409,6	MCF-7	breast:
3	chr5:118126334..118128715-chr5:118291929..118293772,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13187626	1.00[AFR][1000 genomes]
rs34286847	1.00[AFR][1000 genomes]
rs35808268	1.00[AFR][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	nsv1032241	chr5:117900051-118157400	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv882768	chr5:118088385-118133786	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv882769	chr5:118088385-118154368	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv882770	chr5:118089798-118133786	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118122000-118127200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:118125200-118127600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:118125400-118127200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:118126000-118127600	Enhancers	Fetal Lung	lung
5	chr5:118126400-118127800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:118126600-118127400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:118126600-118127800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:118126600-118128200	Enhancers	Brain Substantia Nigra	brain
9	chr5:118126600-118128600	Enhancers	Ovary	ovary
10	chr5:118126600-118131200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:118126800-118127200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:118126800-118127800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:118126800-118128400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:118126800-118129600	Enhancers	Fetal Stomach	stomach
15	chr5:118127000-118127200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:118127000-118127200	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr5:118127000-118127400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:118127000-118127400	Enhancers	Brain Anterior Caudate	brain
19	chr5:118127000-118127400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr5:118127000-118127400	Enhancers	Colon Smooth Muscle	Colon
21	chr5:118127000-118127400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr5:118127000-118127600	Enhancers	Fetal Kidney	kidney
23	chr5:118127000-118127800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:118127000-118127800	Enhancers	Fetal Heart	heart
25	chr5:118127000-118127800	Enhancers	Rectal Smooth Muscle	rectum
26	chr5:118127000-118128000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:118127000-118128200	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:118127000-118128400	Enhancers	Brain Angular Gyrus	brain
29	chr5:118127000-118129600	Enhancers	Fetal Muscle Leg	muscle
30	chr5:118127000-118130200	Enhancers	Liver	Liver
31	chr5:118127000-118160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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