Variant report

Variant	rs181925
Chromosome Location	chr5:60450202-60450203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60446341..60452214-chr5:60453805..60459863,10	K562	blood:
2	chr5:60450120..60453584-chr5:60455423..60459976,7	MCF-7	breast:
3	chr5:60448018..60450843-chr5:60642622..60644551,2	MCF-7	breast:
4	chr5:60440723..60443859-chr5:60448886..60452084,3	K562	blood:

Variant related genes	Relation type
ENSG00000251279	Chromatin interaction
ENSG00000188725	Chromatin interaction
ENSG00000251682	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10071281	0.82[EUR][1000 genomes]
rs13187930	0.82[EUR][1000 genomes]
rs159372	0.82[EUR][1000 genomes]
rs2059064	0.82[EUR][1000 genomes]
rs2080870	0.82[EUR][1000 genomes]
rs248686	0.82[EUR][1000 genomes]
rs6893752	0.82[EUR][1000 genomes]
rs9291706	0.82[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	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598314	chr5:60374912-60459040	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs181925	ERCC8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60398800-60453800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:60428600-60452000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:60436000-60457600	Weak transcription	Esophagus	oesophagus
4	chr5:60438000-60455400	Weak transcription	Fetal Brain Female	brain
5	chr5:60438600-60452000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:60438600-60452000	Weak transcription	Primary B cells from cord blood	blood
7	chr5:60438600-60455600	Weak transcription	Fetal Kidney	kidney
8	chr5:60438800-60455800	Weak transcription	Brain Germinal Matrix	brain
9	chr5:60439000-60451600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:60440400-60457400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:60440600-60455800	Weak transcription	Left Ventricle	heart
12	chr5:60441000-60455800	Weak transcription	Pancreas	Pancrea
13	chr5:60442400-60455800	Weak transcription	NHLF	lung
14	chr5:60443800-60451800	Weak transcription	A549	lung
15	chr5:60445000-60452200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:60445000-60452400	Weak transcription	HSMM	muscle
17	chr5:60445400-60452000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:60445400-60455000	Weak transcription	Fetal Lung	lung
19	chr5:60445600-60455600	Weak transcription	Primary T cells from cord blood	blood
20	chr5:60446200-60454600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:60446400-60451200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:60446400-60451800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:60446400-60452400	Weak transcription	NHEK	skin
24	chr5:60446600-60457400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:60446800-60456600	Weak transcription	Fetal Stomach	stomach
26	chr5:60447000-60451600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:60447000-60452000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:60447400-60457400	Weak transcription	Ovary	ovary
29	chr5:60447800-60452000	Weak transcription	Fetal Intestine Small	intestine
30	chr5:60447800-60452600	Weak transcription	GM12878-XiMat	blood
31	chr5:60448000-60451200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:60448200-60453600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:60448200-60453800	Weak transcription	NH-A	brain
34	chr5:60448200-60454200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr5:60448400-60451800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:60449000-60457200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:60449200-60455400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:60449600-60450400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr5:60449600-60454200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:60449800-60452600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:60449800-60452600	Weak transcription	Liver	Liver
42	chr5:60449800-60454400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:60450000-60452000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr5:60450000-60452400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:60450000-60455000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr5:60450000-60457400	Weak transcription	Right Ventricle	heart
47	chr5:60450200-60451600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:60450200-60452000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:60450200-60452000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:60450200-60455000	Weak transcription	Primary hematopoietic stem cells	blood

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