Variant report

Variant	rs6902930
Chromosome Location	chr6:131376047-131376048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131370012..131372653-chr6:131373371..131376105,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10872375	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11154611	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11760051	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12195366	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12196734	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12197829	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12203760	0.99[ASN][1000 genomes]
rs12214021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1569195	0.99[ASN][1000 genomes]
rs17059954	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1976981	0.98[ASN][1000 genomes]
rs2151068	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178282	0.99[ASN][1000 genomes]
rs28812545	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4259270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4498389	0.99[ASN][1000 genomes]
rs62423583	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6901548	0.97[ASN][1000 genomes]
rs6903705	0.99[ASN][1000 genomes]
rs6905151	0.98[ASN][1000 genomes]
rs6907809	0.91[ASN][1000 genomes]
rs6916206	0.94[ASN][1000 genomes]
rs6921542	0.99[ASN][1000 genomes]
rs6926372	0.97[ASN][1000 genomes]
rs7763960	0.98[ASN][1000 genomes]
rs7770892	0.99[ASN][1000 genomes]
rs9321264	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9372986	0.91[ASN][1000 genomes]
rs9372987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9372989	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9375784	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9375785	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9375787	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9375788	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9375789	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9375790	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9375794	0.98[ASN][1000 genomes]
rs9375795	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9375796	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9375797	0.99[ASN][1000 genomes]
rs9388873	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9388876	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388880	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9398967	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9398969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398970	0.99[ASN][1000 genomes]
rs9398971	0.99[ASN][1000 genomes]
rs9398972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398973	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398975	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9398976	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9402301	0.85[ASN][1000 genomes]
rs9402306	0.86[ASN][1000 genomes]
rs9402310	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9402313	0.99[ASN][1000 genomes]
rs9402314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9483210	0.97[ASN][1000 genomes]
rs9492790	0.95[ASN][1000 genomes]
rs9492792	0.99[ASN][1000 genomes]
rs951251	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs954919	0.99[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
rs6902930	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131373400-131381400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:131373600-131376800	ZNF genes & repeats	NHEK	skin
3	chr6:131373800-131377400	ZNF genes & repeats	Fetal Muscle Leg	muscle
4	chr6:131374000-131377600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:131374200-131376400	ZNF genes & repeats	Fetal Stomach	stomach
6	chr6:131374400-131378200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:131374600-131376400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
8	chr6:131374600-131376400	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr6:131374600-131376400	ZNF genes & repeats	Fetal Lung	lung
10	chr6:131374600-131376600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:131374600-131376600	ZNF genes & repeats	Brain Anterior Caudate	brain
12	chr6:131374600-131376800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
13	chr6:131374600-131376800	ZNF genes & repeats	NHLF	lung
14	chr6:131374600-131377000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:131374600-131377200	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr6:131374600-131377400	ZNF genes & repeats	Fetal Intestine Large	intestine
17	chr6:131374600-131378000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:131374600-131378000	ZNF genes & repeats	A549	lung
19	chr6:131374800-131376200	ZNF genes & repeats	Osteobl	bone
20	chr6:131374800-131376400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:131374800-131376400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:131374800-131376600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:131374800-131376600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr6:131374800-131377000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
25	chr6:131374800-131377200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr6:131374800-131377200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr6:131374800-131377600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr6:131374800-131378000	ZNF genes & repeats	Dnd41	blood
29	chr6:131374800-131378000	ZNF genes & repeats	HepG2	liver
30	chr6:131374800-131378800	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr6:131375000-131376200	ZNF genes & repeats	Liver	Liver
32	chr6:131375000-131376200	ZNF genes & repeats	Fetal Kidney	kidney
33	chr6:131375000-131376400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:131375000-131376400	ZNF genes & repeats	Colonic Mucosa	Colon
35	chr6:131375000-131376400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
36	chr6:131375000-131376600	ZNF genes & repeats	Brain Substantia Nigra	brain
37	chr6:131375000-131376800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr6:131375000-131377000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:131375000-131377000	ZNF genes & repeats	HMEC	breast
40	chr6:131375000-131377200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:131375000-131377400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:131375000-131378000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:131375200-131377400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
44	chr6:131375600-131380600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:131375800-131376400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:131375800-131382400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:131376000-131382600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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