Variant report

Variant	rs3739338
Chromosome Location	chr8:67361264-67361265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67358722..67361670-chr8:67363913..67366041,2	MCF-7	breast:
2	chr8:67360323..67362172-chr8:67364568..67366628,2	K562	blood:
3	chr8:67360913..67363800-chr8:67364065..67366392,2	MCF-7	breast:
4	chr8:67344388..67346218-chr8:67359592..67361320,2	K562	blood:

Variant related genes	Relation type
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10504396	0.85[AMR][1000 genomes]
rs11987071	0.85[AMR][1000 genomes]
rs11989945	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11992832	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11993412	0.85[AMR][1000 genomes]
rs11993452	0.85[AMR][1000 genomes]
rs11994448	0.85[AMR][1000 genomes]
rs11997195	0.85[AMR][1000 genomes]
rs11998019	0.85[AMR][1000 genomes]
rs12541622	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12547412	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12549283	0.85[AMR][1000 genomes]
rs12549484	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550686	0.85[AMR][1000 genomes]
rs16919046	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16932815	0.85[AMR][1000 genomes]
rs2098945	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2718999	0.81[ASN][1000 genomes]
rs28372872	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35352031	0.88[CEU][hapmap]
rs4737227	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737228	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737229	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737233	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737785	0.85[AMR][1000 genomes]
rs4737787	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4737788	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4737793	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737794	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737795	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737796	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737799	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55681208	0.85[AMR][1000 genomes]
rs55742362	0.85[AMR][1000 genomes]
rs56176340	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57217048	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57462183	0.85[AMR][1000 genomes]
rs57882940	0.85[AMR][1000 genomes]
rs57925216	0.85[AMR][1000 genomes]
rs57951167	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61646267	0.85[AMR][1000 genomes]
rs6472268	0.85[AMR][1000 genomes]
rs6472278	0.88[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs66470447	0.85[AMR][1000 genomes]
rs66713752	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66716606	0.85[AMR][1000 genomes]
rs66779163	0.85[AMR][1000 genomes]
rs66967250	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66996327	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67015438	0.85[AMR][1000 genomes]
rs67433773	0.90[ASN][1000 genomes]
rs67436695	0.85[AMR][1000 genomes]
rs67472590	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67556627	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67814353	0.85[AMR][1000 genomes]
rs67928664	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6985120	0.85[AMR][1000 genomes]
rs6989573	0.85[AMR][1000 genomes]
rs6993146	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6994570	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6998057	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6998839	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7001576	0.81[AMR][1000 genomes]
rs7009437	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7013081	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7014652	0.85[AMR][1000 genomes]
rs7015791	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72652713	0.85[AMR][1000 genomes]
rs72652714	0.83[AMR][1000 genomes]
rs72652715	0.85[AMR][1000 genomes]
rs72652728	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72652745	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652748	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652762	0.87[ASN][1000 genomes]
rs73247982	0.85[AMR][1000 genomes]
rs73249829	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73253606	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7824057	0.85[AMR][1000 genomes]
rs7828145	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7838277	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7838488	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv6236	chr8:67359312-67403981	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3739338	ADHFE1	cis	multi-tissue	Pritchard

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67352000-67363600	Weak transcription	Esophagus	oesophagus
2	chr8:67352200-67364600	Weak transcription	Psoas Muscle	Psoas
3	chr8:67352400-67361600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:67352400-67363600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:67352400-67366600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:67352600-67363600	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:67353400-67365400	Weak transcription	Fetal Brain Male	brain
8	chr8:67353400-67368000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:67353600-67365200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:67353600-67372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:67354000-67367800	Weak transcription	Stomach Mucosa	stomach
12	chr8:67355000-67365200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:67356200-67362200	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:67356200-67374400	Strong transcription	Liver	Liver
15	chr8:67356400-67361800	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:67356400-67366000	Weak transcription	Fetal Brain Female	brain
17	chr8:67356800-67365600	Strong transcription	Stomach Smooth Muscle	stomach
18	chr8:67357400-67365000	Weak transcription	Primary T cells from cord blood	blood
19	chr8:67357800-67363400	Strong transcription	Left Ventricle	heart
20	chr8:67358400-67364200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:67358600-67364600	Weak transcription	Right Atrium	heart
22	chr8:67358600-67365800	Strong transcription	Fetal Lung	lung
23	chr8:67358800-67361400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:67358800-67365400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:67359000-67361400	Weak transcription	Osteobl	bone
26	chr8:67359000-67361600	Weak transcription	Brain Angular Gyrus	brain
27	chr8:67359000-67362000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:67359000-67365000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:67359000-67365200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:67359000-67365400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:67359000-67372200	Weak transcription	HSMMtube	muscle
32	chr8:67359200-67364200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:67359200-67364800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:67359200-67365200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:67359200-67367200	Weak transcription	HSMM	muscle
36	chr8:67359200-67370200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:67359200-67370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:67359400-67364200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:67359400-67366400	Strong transcription	Fetal Intestine Large	intestine
40	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
41	chr8:67359800-67362200	Weak transcription	Fetal Heart	heart
42	chr8:67360000-67369600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:67360200-67362800	Strong transcription	Right Ventricle	heart
44	chr8:67360200-67366000	Strong transcription	Aorta	Aorta
45	chr8:67360200-67366000	Strong transcription	Lung	lung
46	chr8:67360200-67366400	Strong transcription	Ovary	ovary
47	chr8:67360400-67363400	Strong transcription	Placenta	Placenta
48	chr8:67360600-67362400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr8:67360600-67363000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:67360600-67369000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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