Variant report

Variant	rs6651308
Chromosome Location	chr8:67368734-67368735
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr8:67368428-67368921	SK-N-SH	brain:	n/a	chr8:67368633-67368641
2	MAX	chr8:67368246-67368850	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr8:67368332-67368887	SK-N-SH	brain:	n/a	n/a
4	SP1	chr8:67368273-67368919	A549	lung:	n/a	n/a
5	SIN3AK20	chr8:67368373-67368835	A549	lung:	n/a	n/a
6	FOS	chr8:67368352-67368886	MCF10A-Er-Src	breast:	n/a	chr8:67368633-67368641 chr8:67368631-67368642
7	E2F4	chr8:67368440-67368787	MCF10A-Er-Src	breast:	n/a	n/a
8	SIN3AK20	chr8:67368373-67368834	SK-N-SH	brain:	n/a	n/a
9	EP300	chr8:67368341-67368893	A549	lung:	n/a	n/a
10	NFIC	chr8:67368157-67369064	SK-N-SH	brain:	n/a	n/a
11	STAT3	chr8:67368382-67368851	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F6	chr8:67368413-67369130	A549	lung:	n/a	n/a
13	STAT3	chr8:67368394-67368864	MCF10A-Er-Src	breast:	n/a	n/a
14	MAX	chr8:67368433-67368868	SK-N-SH	brain:	n/a	n/a
15	TCF12	chr8:67368376-67368862	A549	lung:	n/a	n/a
16	MAX	chr8:67368311-67368922	SK-N-SH	brain:	n/a	n/a
17	NR3C1	chr8:67368443-67368818	A549	lung:	n/a	chr8:67368633-67368642
18	MAFK	chr8:67368349-67368780	IMR90	lung:	n/a	n/a
19	E2F6	chr8:67368491-67368842	A549	lung:	n/a	n/a
20	EP300	chr8:67368330-67368864	SK-N-SH_RA	brain:	n/a	n/a
21	STAT3	chr8:67368355-67368854	MCF10A-Er-Src	breast:	n/a	n/a
22	TCF12	chr8:67368370-67368812	A549	lung:	n/a	n/a
23	FOSL2	chr8:67368304-67368898	A549	lung:	n/a	chr8:67368633-67368641
24	TCF12	chr8:67368195-67369112	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr8:67368532-67369459	IMR90	lung:	n/a	n/a
26	PBX3	chr8:67368209-67369067	SK-N-SH	brain:	n/a	n/a
27	NFIC	chr8:67368388-67368973	SK-N-SH	brain:	n/a	n/a
28	JUND	chr8:67368180-67368934	SK-N-SH	brain:	n/a	chr8:67368633-67368641
29	GATA3	chr8:67368176-67369032	SK-N-SH	brain:	n/a	n/a
30	FOS	chr8:67368381-67368866	MCF10A-Er-Src	breast:	n/a	chr8:67368633-67368641 chr8:67368631-67368642
31	BCL3	chr8:67368420-67368775	GM12878	blood:	n/a	n/a
32	CEBPB	chr8:67368253-67368959	A549	lung:	n/a	n/a
33	POLR2A	chr8:67368396-67368746	U87	brain:	n/a	n/a
34	SP1	chr8:67368405-67368871	A549	lung:	n/a	n/a
35	JUND	chr8:67368400-67368805	A549	lung:	n/a	chr8:67368633-67368641
36	RAD21	chr8:67368491-67368757	SK-N-SH_RA	brain:	n/a	n/a
37	MAX	chr8:67368014-67369054	A549	lung:	n/a	n/a
38	EP300	chr8:67368195-67368902	SK-N-SH	brain:	n/a	n/a
39	TEAD4	chr8:67368234-67368977	SK-N-SH	brain:	n/a	n/a
40	FOS	chr8:67368449-67368806	HUVEC	blood vessel:	n/a	chr8:67368633-67368641 chr8:67368631-67368642
41	MYC	chr8:67368394-67368951	MCF10A-Er-Src	breast:	n/a	n/a
42	EP300	chr8:67368373-67368832	SK-N-SH_RA	brain:	n/a	n/a
43	POLR2A	chr8:67368516-67368813	SK-N-SH	brain:	n/a	n/a
44	FOS	chr8:67368329-67368927	MCF10A-Er-Src	breast:	n/a	chr8:67368633-67368641 chr8:67368631-67368642
45	EP300	chr8:67368152-67369083	SK-N-SH	brain:	n/a	n/a
46	PBX3	chr8:67368215-67369018	SK-N-SH	brain:	n/a	n/a
47	MAX	chr8:67368462-67368872	Hela-S3	cervix:	n/a	n/a
48	JUND	chr8:67368214-67368954	SK-N-SH	brain:	n/a	chr8:67368633-67368641
49	NR3C1	chr8:67368442-67368773	A549	lung:	n/a	chr8:67368633-67368642
50	FOSL2	chr8:67368267-67368961	SK-N-SH	brain:	n/a	chr8:67368633-67368641

No.	Distal block	Cell Line	Cell type
1	chr8:67367251..67370240-chr8:67562662..67564942,2	K562	blood:
2	chr8:67368485..67371409-chr8:67521786..67525460,5	MCF-7	breast:
3	chr8:67366507..67368766-chr8:67466802..67469221,2	K562	blood:

Variant related genes	Relation type
C8orf46	TF binding region
ADHFE1	TF binding region
ENSG00000185697	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12265	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[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541034	0.82[CHB][hapmap]
rs12541243	0.92[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12545483	0.82[CHB][hapmap]
rs12546504	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547055	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675850	0.83[CHB][hapmap]
rs12677003	0.90[ASN][1000 genomes]
rs13259712	0.84[ASN][1000 genomes]
rs13274386	1.00[CEU][hapmap]
rs1559886	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16932908	0.82[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16932940	0.82[CHB][hapmap]
rs16932942	0.82[CHB][hapmap]
rs2555580	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs34680830	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35188537	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3739336	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap]
rs3824263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71515021	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736458	0.82[CHB][hapmap]
rs746787	0.82[CHB][hapmap]
rs746789	0.82[CHB][hapmap]
rs8180970	0.82[AFR][1000 genomes]
rs9643398	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643581	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9643582	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes];1.00[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
rs6651308	ADHFE1	cis	multi-tissue	Pritchard

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67353600-67372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:67356200-67374400	Strong transcription	Liver	Liver
3	chr8:67359000-67372200	Weak transcription	HSMMtube	muscle
4	chr8:67359200-67370200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:67359200-67370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
7	chr8:67360000-67369600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:67360600-67369000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:67360600-67369600	Strong transcription	Brain Hippocampus Middle	brain
10	chr8:67360800-67369400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:67360800-67369400	Strong transcription	Fetal Muscle Leg	muscle
12	chr8:67361200-67373800	Strong transcription	Fetal Intestine Small	intestine
13	chr8:67361400-67377400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:67361600-67374400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:67364200-67369600	Strong transcription	Fetal Stomach	stomach
16	chr8:67364400-67375800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:67364600-67373400	Weak transcription	Spleen	Spleen
18	chr8:67364600-67378800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:67364800-67384000	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:67365200-67374600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:67365200-67377400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:67365400-67372400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:67365400-67383800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:67365600-67372200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:67365600-67372200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:67365600-67375400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:67365800-67370200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:67365800-67370200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:67365800-67372400	Weak transcription	Brain Angular Gyrus	brain
30	chr8:67365800-67379600	Weak transcription	Esophagus	oesophagus
31	chr8:67366000-67370400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:67366000-67370600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:67366000-67372200	Weak transcription	Brain Anterior Caudate	brain
34	chr8:67366000-67373400	Weak transcription	Gastric	stomach
35	chr8:67366000-67374000	Weak transcription	Right Ventricle	heart
36	chr8:67366000-67376600	Weak transcription	Right Atrium	heart
37	chr8:67366200-67370200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:67366400-67371400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:67366400-67372200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr8:67366400-67372200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:67366400-67373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:67367000-67368800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr8:67367000-67369400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:67367200-67368800	Strong transcription	Ovary	ovary
45	chr8:67367200-67369000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:67367200-67369000	Enhancers	Hela-S3	cervix
47	chr8:67367200-67369400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:67367200-67369400	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:67367200-67369600	Strong transcription	Brain Cingulate Gyrus	brain
50	chr8:67367200-67370800	Strong transcription	Pancreas	Pancrea

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