Variant report

Variant	rs4840381
Chromosome Location	chr8:8821515-8821516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10087078	1.00[CHB][hapmap]
rs10093912	1.00[CHB][hapmap]
rs11778747	0.89[EUR][1000 genomes]
rs11787026	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs11990476	0.93[ASN][1000 genomes]
rs11992016	0.93[ASN][1000 genomes]
rs12114954	1.00[JPT][hapmap]
rs12548787	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12549151	0.81[ASN][1000 genomes]
rs13252797	0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1594437	0.93[ASN][1000 genomes]
rs17702602	1.00[JPT][hapmap]
rs2043129	0.93[ASN][1000 genomes]
rs2043130	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2043131	0.93[ASN][1000 genomes]
rs2060045	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2082211	0.91[EUR][1000 genomes]
rs2409113	0.87[EUR][1000 genomes]
rs28510464	0.86[ASN][1000 genomes]
rs28587518	0.93[ASN][1000 genomes]
rs28740848	0.86[ASN][1000 genomes]
rs4840377	0.91[EUR][1000 genomes]
rs4841079	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57395675	0.93[ASN][1000 genomes]
rs57693332	0.86[ASN][1000 genomes]
rs57719687	0.91[EUR][1000 genomes]
rs58594457	0.93[ASN][1000 genomes]
rs59374911	0.93[ASN][1000 genomes]
rs59454995	1.00[ASN][1000 genomes]
rs60274012	0.93[ASN][1000 genomes]
rs62492946	0.81[ASN][1000 genomes]
rs6601280	0.81[CHD][hapmap]
rs6983877	1.00[JPT][hapmap]
rs7004160	1.00[ASN][1000 genomes]
rs7014430	0.93[ASN][1000 genomes]
rs7014604	0.93[ASN][1000 genomes]
rs7016240	0.93[ASN][1000 genomes]
rs73514371	0.86[ASN][1000 genomes]
rs73514373	1.00[ASN][1000 genomes]
rs73518314	1.00[ASN][1000 genomes]
rs73518320	1.00[ASN][1000 genomes]
rs73522594	0.93[ASN][1000 genomes]
rs73662257	0.93[ASN][1000 genomes]
rs7814828	0.86[ASN][1000 genomes]
rs7836156	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7838663	1.00[CHB][hapmap]
rs9657526	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9987276	1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4840381	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs4840381	CLDN23	cis	multi-tissue	Pritchard

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8811000-8836000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr8:8817800-8827600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:8820200-8821600	Enhancers	Stomach Mucosa	stomach
4	chr8:8820600-8821600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:8820600-8821600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:8820600-8821600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
7	chr8:8820600-8821600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:8820600-8821600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:8820600-8821600	Bivalent Enhancer	Fetal Brain Male	brain
10	chr8:8820600-8821600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr8:8820600-8821800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:8820800-8821600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr8:8820800-8821600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr8:8820800-8821600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr8:8820800-8821600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:8820800-8821600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
17	chr8:8820800-8821600	Active TSS	Brain Angular Gyrus	brain
18	chr8:8820800-8821600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
19	chr8:8820800-8821600	Active TSS	Fetal Kidney	kidney
20	chr8:8820800-8821800	Active TSS	Brain Anterior Caudate	brain
21	chr8:8820800-8835400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:8821000-8821600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr8:8821000-8821600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:8821000-8821600	Bivalent Enhancer	Fetal Thymus	thymus
25	chr8:8821000-8821600	Flanking Bivalent TSS/Enh	HSMMtube	muscle
26	chr8:8821200-8821600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:8821200-8821600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:8821200-8821600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
29	chr8:8821200-8821600	Enhancers	Primary B cells from peripheral blood	blood
30	chr8:8821200-8821600	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr8:8821200-8821600	Enhancers	Fetal Heart	heart
32	chr8:8821200-8821600	Enhancers	Left Ventricle	heart
33	chr8:8821200-8821600	Enhancers	Psoas Muscle	Psoas
34	chr8:8821200-8821600	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr8:8821200-8821600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr8:8821200-8821600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr8:8821200-8822400	Enhancers	K562	blood
38	chr8:8821200-8825600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr8:8821200-8835600	Weak transcription	Gastric	stomach
40	chr8:8821400-8821600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
41	chr8:8821400-8821600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr8:8821400-8821600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:8821400-8821600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:8821400-8821600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:8821400-8821600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
46	chr8:8821400-8821600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:8821400-8821600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:8821400-8821600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr8:8821400-8821600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:8821400-8821600	Enhancers	Cortex derived primary cultured neurospheres	brain

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