Variant report

Variant	rs28392906
Chromosome Location	chr8:104311955-104311956
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	CTCF	chr8:104311920-104312070	HMEC	breast:	n/a	n/a
2	RCOR1	chr8:104310641-104312085	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr8:104310209-104312054	Hela-S3	cervix:	n/a	n/a
4	SIN3AK20	chr8:104310971-104312013	MCF-7	breast:	n/a	n/a
5	POLR2A	chr8:104311884-104312040	Hela-S3	cervix:	n/a	n/a
6	GATA3	chr8:104311800-104312770	SK-N-SH	brain:	n/a	n/a
7	MAX	chr8:104310525-104312693	MCF-7	breast:	n/a	chr8:104312304-104312315
8	JUND	chr8:104311916-104312679	SK-N-SH	brain:	n/a	chr8:104312290-104312301
9	TBP	chr8:104311441-104312356	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr8:104310347-104312089	Hela-S3	cervix:	n/a	chr8:104311292-104311302
11	MXI1	chr8:104311420-104312499	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr8:104310494-104312668	IMR90	lung:	n/a	n/a
13	RAD21	chr8:104310628-104312024	IMR90	lung:	n/a	chr8:104311330-104311344
14	BRCA1	chr8:104310445-104312598	Hela-S3	cervix:	n/a	chr8:104311074-104311083
15	TCF12	chr8:104311832-104312789	SK-N-SH	brain:	n/a	n/a
16	MTA3	chr8:104311401-104312109	GM12878	blood:	n/a	n/a
17	ZNF263	chr8:104311042-104312484	HEK293-T-REx	kidney:	n/a	n/a
18	POLR2A	chr8:104310583-104312088	HCT-116	colon:	n/a	n/a
19	RFX5	chr8:104311455-104312162	Hela-S3	cervix:	n/a	n/a
20	TAF1	chr8:104311863-104312180	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr8:104311845-104312644	SK-N-SH	brain:	n/a	n/a
22	FOSL2	chr8:104311954-104312648	SK-N-SH	brain:	n/a	n/a
23	YY1	chr8:104311445-104312122	SK-N-SH	brain:	n/a	n/a
24	TBP	chr8:104310726-104312101	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr8:104309707-104313471	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr8:104311427-104312478	SK-N-SH	brain:	n/a	n/a
27	MYC	chr8:104311459-104312615	MCF10A-Er-Src	breast:	n/a	chr8:104312304-104312315
28	YY1	chr8:104311805-104312047	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:104311011..104313390-chr8:104387809..104389665,2	MCF-7	breast:
2	chr8:104310872..104313669-chr8:104425556..104428778,5	MCF-7	breast:
3	chr8:104152186..104155681-chr8:104309748..104312108,3	MCF-7	breast:
4	chr1:156736343..156738985-chr8:104309679..104312476,2	MCF-7	breast:
5	chr8:104309661..104313454-chr8:104382208..104385836,8	MCF-7	breast:
6	chr8:104309966..104312210-chr8:104383451..104386900,3	MCF-7	breast:
7	chr3:101567790..101569895-chr8:104310812..104313002,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247081	TF binding region
FZD6	TF binding region
ENSG00000164932	Chromatin interaction
ENSG00000236939	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000164929	Chromatin interaction
ENSG00000144802	Chromatin interaction
ENSG00000143321	Chromatin interaction
ENSG00000143294	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1004468	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10505042	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1053917	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10808383	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1095713	0.96[ASN][1000 genomes]
rs1095714	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11781252	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11987172	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12164188	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12546491	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12550097	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1357354	0.99[ASN][1000 genomes]
rs1370008	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1370009	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1464550	0.88[ASN][1000 genomes]
rs1464552	0.88[ASN][1000 genomes]
rs1522708	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1522710	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1522711	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1522712	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16870346	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1851483	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1916117	0.94[ASN][1000 genomes]
rs2010308	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2272097	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2388532	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2642363	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2642364	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2642366	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2642368	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2687351	0.98[ASN][1000 genomes]
rs2917550	0.89[ASN][1000 genomes]
rs2934719	0.96[ASN][1000 genomes]
rs2934726	0.80[EUR][1000 genomes]
rs2948447	0.99[ASN][1000 genomes]
rs3133798	0.81[EUR][1000 genomes]
rs3133827	0.93[ASN][1000 genomes]
rs35019987	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35935697	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3736047	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3808553	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808554	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808556	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808559	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4115670	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4734698	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62525498	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62525511	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7008838	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7012843	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs827530	0.99[ASN][1000 genomes]
rs827534	0.85[ASN][1000 genomes]
rs827535	0.99[ASN][1000 genomes]
rs827536	0.99[ASN][1000 genomes]
rs827541	0.82[EUR][1000 genomes]
rs827550	0.96[ASN][1000 genomes]
rs827552	0.96[ASN][1000 genomes]
rs827554	0.96[ASN][1000 genomes]
rs827578	0.88[ASN][1000 genomes]
rs827579	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs827580	0.88[ASN][1000 genomes]
rs827581	0.88[ASN][1000 genomes]
rs827582	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs827583	0.88[ASN][1000 genomes]
rs827584	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs827585	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs827586	0.81[ASN][1000 genomes]
rs827587	0.80[ASN][1000 genomes]
rs844136	0.88[ASN][1000 genomes]
rs865461	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs865462	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[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	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104308600-104313800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:104308800-104312400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:104310000-104312000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:104310000-104313400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:104310000-104313800	Active TSS	Aorta	Aorta
6	chr8:104310200-104312000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:104310200-104312000	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr8:104310200-104312600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr8:104310200-104312800	Active TSS	Stomach Smooth Muscle	stomach
10	chr8:104310400-104312000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:104310400-104312000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr8:104310400-104312000	Active TSS	Duodenum Mucosa	Duodenum
13	chr8:104310400-104312000	Active TSS	Placenta Amnion	Placenta Amnion
14	chr8:104310400-104312000	Active TSS	Thymus	Thymus
15	chr8:104310400-104312000	Active TSS	A549	lung
16	chr8:104310400-104312200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr8:104310400-104312200	Active TSS	Brain Anterior Caudate	brain
18	chr8:104310400-104312200	Active TSS	Brain Hippocampus Middle	brain
19	chr8:104310400-104312400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:104310400-104312400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:104310400-104312400	Active TSS	Right Ventricle	heart
22	chr8:104310400-104313000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:104310400-104313400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr8:104310600-104312000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:104310600-104312000	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr8:104310600-104312000	Active TSS	Esophagus	oesophagus
27	chr8:104310600-104312000	Active TSS	Small Intestine	intestine
28	chr8:104310600-104312200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:104310600-104312200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:104310600-104312200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:104310600-104312200	Active TSS	Left Ventricle	heart
32	chr8:104310600-104312200	Active TSS	Ovary	ovary
33	chr8:104310600-104312200	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr8:104310600-104312200	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr8:104310600-104312400	Active TSS	Lung	lung
36	chr8:104310600-104312600	Active TSS	Brain Angular Gyrus	brain
37	chr8:104310600-104313200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:104310800-104312000	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr8:104310800-104312000	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr8:104310800-104312000	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr8:104310800-104312000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr8:104310800-104312000	Active TSS	Gastric	stomach
43	chr8:104310800-104312000	Active TSS	Hela-S3	cervix
44	chr8:104310800-104312000	Active TSS	NHEK	skin
45	chr8:104310800-104312200	Active TSS	Brain Cingulate Gyrus	brain
46	chr8:104310800-104312200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
47	chr8:104310800-104312200	Active TSS	Stomach Mucosa	stomach
48	chr8:104310800-104312200	Active TSS	HMEC	breast
49	chr8:104310800-104312400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:104310800-104313000	Active TSS	HUES6 Cell Line	embryonic stem cell

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