Variant report

Variant	rs9375791
Chromosome Location	chr6:131313416-131313417
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:131308949..131310454-chr6:131311371..131314255,2	K562	blood:
2	chr6:131301483..131303877-chr6:131310985..131313836,2	MCF-7	breast:
3	chr6:131308949..131310665-chr6:131311371..131314257,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1338904	0.81[EUR][1000 genomes]
rs1977576	0.84[EUR][1000 genomes]
rs6921207	0.88[CEU][hapmap];0.91[GIH][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs7752292	0.88[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7758804	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7761311	0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs9321266	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9388872	0.83[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	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9375791	EPB41L2	cis	parietal	SCAN
rs9375791	EPB41L2	cis	lymphoblastoid	seeQTL
rs9375791	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131298800-131314800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:131300400-131314600	Weak transcription	Small Intestine	intestine
3	chr6:131303800-131315400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:131306800-131313800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:131306800-131313800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:131306800-131315200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:131306800-131317000	Weak transcription	Fetal Intestine Small	intestine
8	chr6:131306800-131317200	Weak transcription	NHLF	lung
9	chr6:131306800-131317400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:131306800-131320000	Weak transcription	Left Ventricle	heart
11	chr6:131308000-131315400	Weak transcription	Lung	lung
12	chr6:131308600-131314400	Weak transcription	Dnd41	blood
13	chr6:131309200-131317200	Weak transcription	Adipose Nuclei	Adipose
14	chr6:131310400-131316800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:131311400-131318400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:131312200-131313600	Enhancers	Fetal Lung	lung
17	chr6:131312200-131314000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:131312400-131313800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:131312400-131314000	Weak transcription	Pancreas	Pancrea
20	chr6:131312400-131314600	Weak transcription	Right Atrium	heart
21	chr6:131312400-131317000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:131312400-131318400	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:131312600-131313600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:131312600-131313600	Enhancers	Osteobl	bone
25	chr6:131312600-131314000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:131312600-131314800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:131312600-131314800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:131312600-131317400	Weak transcription	Fetal Stomach	stomach
29	chr6:131312600-131321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr6:131313000-131314000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:131313000-131318400	Weak transcription	Fetal Kidney	kidney
32	chr6:131313200-131315400	Enhancers	A549	lung
33	chr6:131313200-131317000	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:131313400-131313600	Enhancers	HepG2	liver
35	chr6:131313400-131313800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:131313400-131313800	Enhancers	NHEK	skin
37	chr6:131313400-131314000	Enhancers	K562	blood
38	chr6:131313400-131315600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr6:131313400-131316800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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