Variant report

Variant	rs6903066
Chromosome Location	chr6:131332166-131332167
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131314347..131316651-chr6:131330693..131332360,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3777464	0.80[JPT][hapmap]
rs7740558	0.81[ASN][1000 genomes]
rs7745206	0.86[ASN][1000 genomes]
rs9483209	0.85[ASN][1000 genomes]
rs9492782	0.88[CEU][hapmap]
rs9492799	0.85[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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6903066	EPB41L2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131322600-131333200	Weak transcription	Pancreas	Pancrea
2	chr6:131324000-131334200	Weak transcription	Small Intestine	intestine
3	chr6:131326000-131333800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:131327000-131333200	Weak transcription	Ovary	ovary
5	chr6:131328400-131332200	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:131328400-131334800	Weak transcription	A549	lung
7	chr6:131329600-131333800	Weak transcription	Brain Angular Gyrus	brain
8	chr6:131329800-131332200	Weak transcription	Brain Substantia Nigra	brain
9	chr6:131329800-131333200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr6:131329800-131334600	Weak transcription	Fetal Stomach	stomach
11	chr6:131329800-131334800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:131329800-131334800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:131329800-131336400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:131329800-131347400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:131330000-131335000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:131330000-131335000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:131330200-131334800	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:131330200-131335400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:131330400-131333600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:131330400-131336400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:131330600-131334400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:131330800-131334600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:131331200-131332800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:131331200-131334800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:131331400-131332200	Enhancers	Left Ventricle	heart
26	chr6:131331400-131333800	Weak transcription	Fetal Lung	lung
27	chr6:131331400-131334800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:131332000-131332200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr6:131332000-131332200	Enhancers	Rectal Smooth Muscle	rectum
30	chr6:131332000-131332400	Enhancers	Adipose Nuclei	Adipose
31	chr6:131332000-131332400	Enhancers	Brain Cingulate Gyrus	brain

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