Variant report

Variant	rs7838372
Chromosome Location	chr8:131178690-131178691
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	chr8:131166087..131168835-chr8:131177427..131180204,2	K562	blood:
2	chr8:131178586..131180202-chr8:131182476..131184187,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10099820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10103052	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10104573	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10109827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13251129	1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13267150	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13276034	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16893265	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs16904203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2395992	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2670876	1.00[JPT][hapmap]
rs2670881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2670882	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2670886	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2670887	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2791339	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2791346	1.00[JPT][hapmap]
rs2791354	1.00[JPT][hapmap]
rs28413707	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28736405	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28857237	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2994296	0.90[EUR][1000 genomes]
rs2994298	1.00[JPT][hapmap]
rs4733570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6415509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6470798	0.81[AMR][1000 genomes]
rs66513387	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6991855	0.82[YRI][hapmap]
rs72722357	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7462417	0.81[AMR][1000 genomes]
rs7813167	0.85[TSI][hapmap]
rs7825499	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828842	0.82[YRI][hapmap]
rs7830887	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7832716	0.82[YRI][hapmap]
rs7836266	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7838372	EPB41L2	trans	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
3	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:131146600-131178800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:131146600-131206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:131147400-131194400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:131147600-131199800	Weak transcription	Pancreas	Pancrea
8	chr8:131148000-131183800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:131148000-131194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:131149200-131184400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:131152000-131181000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:131152200-131182200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:131152800-131193600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:131155200-131206800	Weak transcription	Psoas Muscle	Psoas
15	chr8:131156200-131194800	Weak transcription	Fetal Kidney	kidney
16	chr8:131156600-131194200	Weak transcription	GM12878-XiMat	blood
17	chr8:131157600-131180800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:131159400-131194000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:131162600-131189600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:131163000-131198400	Weak transcription	Fetal Heart	heart
21	chr8:131164200-131186000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:131164400-131196600	Weak transcription	Brain Substantia Nigra	brain
23	chr8:131165400-131194200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr8:131165800-131181600	Strong transcription	Adipose Nuclei	Adipose
25	chr8:131166200-131182200	Strong transcription	NH-A	brain
26	chr8:131166200-131193400	Strong transcription	Primary T cells from cord blood	blood
27	chr8:131166200-131194000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr8:131167400-131181000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:131168000-131180000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr8:131168600-131181000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:131169600-131194400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr8:131171000-131208600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:131171400-131182000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr8:131172000-131185400	Weak transcription	Gastric	stomach
35	chr8:131172200-131178800	Weak transcription	Thymus	Thymus
36	chr8:131172200-131198800	Weak transcription	Small Intestine	intestine
37	chr8:131172200-131211600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:131172400-131178800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:131172400-131178800	Weak transcription	Brain Anterior Caudate	brain
40	chr8:131172600-131186800	Weak transcription	Colonic Mucosa	Colon
41	chr8:131172600-131199800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:131172600-131206800	Weak transcription	Esophagus	oesophagus
43	chr8:131172800-131182600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:131172800-131210800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:131173000-131198600	Weak transcription	Brain Angular Gyrus	brain
46	chr8:131173600-131206600	Weak transcription	Dnd41	blood
47	chr8:131173800-131178800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:131173800-131178800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:131173800-131178800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:131174600-131192800	Weak transcription	HepG2	liver

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