Variant report

Variant	rs2272097
Chromosome Location	chr8:104311264-104311265
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	MAX	chr8:104310723-104311804	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF1	chr8:104310779-104311697	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:104310033-104311905	MCF10A-Er-Src	breast:	n/a	n/a
4	ZBTB33	chr8:104310821-104311423	SK-N-SH	brain:	n/a	chr8:104311072-104311087 chr8:104311075-104311085
5	POLR2A	chr8:104311018-104311269	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr8:104310712-104311637	GM12878	blood:	n/a	n/a
7	TAF7	chr8:104310926-104311675	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr8:104310685-104311895	A549	lung:	n/a	n/a
9	BHLHE40	chr8:104311054-104311539	GM12878	blood:	n/a	chr8:104311295-104311311 chr8:104311356-104311372 chr8:104311326-104311342 chr8:104311320-104311336 chr8:104311253-104311269
10	POLR2A	chr8:104311034-104311300	H1-neurons	neurons:	n/a	n/a
11	RCOR1	chr8:104310641-104312085	Hela-S3	cervix:	n/a	n/a
12	GATA3	chr8:104310819-104311778	MCF-7	breast:	n/a	n/a
13	MXI1	chr8:104311015-104311644	HepG2	liver:	n/a	n/a
14	POLR2A	chr8:104310209-104312054	Hela-S3	cervix:	n/a	n/a
15	SIN3AK20	chr8:104310971-104312013	MCF-7	breast:	n/a	n/a
16	SIN3AK20	chr8:104310607-104311697	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr8:104310821-104311686	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr8:104311025-104311324	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr8:104310770-104311346	HepG2	liver:	n/a	n/a
20	NR3C1	chr8:104310800-104311378	A549	lung:	n/a	n/a
21	ZBTB33	chr8:104310792-104311626	HCT-116	colon:	n/a	chr8:104311072-104311087 chr8:104311075-104311085
22	POLR2A	chr8:104310707-104311562	A549	lung:	n/a	n/a
23	POLR2A	chr8:104310720-104311702	MCF-7	breast:	n/a	n/a
24	CHD2	chr8:104310767-104311687	H1-hESC	embryonic stem cell:	n/a	chr8:104311292-104311302
25	ELF1	chr8:104310893-104311784	MCF-7	breast:	n/a	chr8:104310977-104310989 chr8:104311249-104311261
26	POLR2A	chr8:104310748-104311707	GM12892	blood:	n/a	n/a
27	MYC	chr8:104311057-104311271	MCF-7	breast:	n/a	n/a
28	POLR2A	chr8:104310937-104311345	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr8:104311038-104311306	GM12891	blood:	n/a	n/a
30	POLR2A	chr8:104310689-104311374	PANC-1	pancreas:	n/a	n/a
31	FOXP2	chr8:104310785-104311282	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr8:104311020-104311478	U87	brain:	n/a	n/a
33	POLR2A	chr8:104310813-104311404	Gliobla	brain:	n/a	n/a
34	POLR2A	chr8:104310791-104311635	GM15510	blood:	n/a	n/a
35	EP300	chr8:104310787-104311687	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr8:104310803-104311374	A549	lung:	n/a	n/a
37	MAX	chr8:104310525-104312693	MCF-7	breast:	n/a	chr8:104312304-104312315
38	MYC	chr8:104310802-104311537	MCF10A-Er-Src	breast:	n/a	n/a
39	TCF7L2	chr8:104310797-104311661	HCT-116	colon:	n/a	n/a
40	HEY1	chr8:104311012-104311288	HepG2	liver:	n/a	chr8:104311255-104311270 chr8:104311257-104311272
41	POLR2A	chr8:104310816-104311430	HUVEC	blood vessel:	n/a	n/a
42	RAD21	chr8:104311073-104311701	H1-hESC	embryonic stem cell:	n/a	chr8:104311330-104311344
43	POLR2A	chr8:104310698-104311762	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr8:104311026-104311290	HUVEC	blood vessel:	n/a	n/a
45	E2F6	chr8:104310610-104311926	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr8:104310667-104311706	ECC-1	luminal epithelium:	n/a	n/a
47	REST	chr8:104311075-104311276	SK-N-SH	brain:	n/a	chr8:104311196-104311205
48	POLR2A	chr8:104310723-104311711	H1-hESC	embryonic stem cell:	n/a	n/a
49	SP4	chr8:104311078-104311667	H1-hESC	embryonic stem cell:	n/a	n/a
50	TAF1	chr8:104310676-104311818	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:88877665..88878290-chr8:104311079..104311582,2	Hela-S3	cervix:
2	chr1:6662748..6663332-chr8:104310675..104311473,2	HCT-116	colon:
3	chr8:104311011..104313390-chr8:104387809..104389665,2	MCF-7	breast:
4	chr8:104310872..104313669-chr8:104425556..104428778,5	MCF-7	breast:
5	chr8:104152186..104155681-chr8:104309748..104312108,3	MCF-7	breast:
6	chr1:156736343..156738985-chr8:104309679..104312476,2	MCF-7	breast:
7	chr8:104031977..104033590-chr8:104309490..104311650,2	MCF-7	breast:
8	chr1:20834448..20835226-chr8:104310740..104311653,2	HCT-116	colon:
9	chr8:104309661..104313454-chr8:104382208..104385836,8	MCF-7	breast:
10	chr8:104308989..104311574-chr8:104426420..104428349,3	MCF-7	breast:
11	chr8:104309966..104312210-chr8:104383451..104386900,3	MCF-7	breast:
12	chr3:101567790..101569895-chr8:104310812..104313002,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247081	TF binding region
FZD6	TF binding region
ENSG00000236939	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000090432	Chromatin interaction
ENSG00000143294	Chromatin interaction
ENSG00000164932	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000164929	Chromatin interaction
ENSG00000143321	Chromatin interaction
ENSG00000162413	Chromatin interaction
ENSG00000198931	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000144802	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1004468	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10505042	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1053917	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10808383	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1095714	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11781252	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11987172	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12164188	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12546491	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12550097	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1370008	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1370009	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1522708	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1522710	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1522711	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1522712	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16870346	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1851483	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2010308	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2388532	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2642363	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2642364	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2642366	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2642368	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28392906	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35019987	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35935697	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3736047	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3808553	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3808554	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3808556	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3808559	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4115670	0.83[EUR][1000 genomes]
rs4734698	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62525498	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62525511	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7008838	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7012843	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs827530	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs827535	0.81[ASN][1000 genomes]
rs827536	0.81[ASN][1000 genomes]
rs827579	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs827582	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs827584	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs827585	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs865461	0.81[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:122 , 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	chr8:104310000-104311800	Active TSS	Rectal Smooth Muscle	rectum
4	chr8:104310000-104312000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr8:104310000-104313400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:104310000-104313800	Active TSS	Aorta	Aorta
7	chr8:104310200-104311400	Active TSS	Colonic Mucosa	Colon
8	chr8:104310200-104311800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:104310200-104311800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr8:104310200-104312000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:104310200-104312000	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr8:104310200-104312600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr8:104310200-104312800	Active TSS	Stomach Smooth Muscle	stomach
14	chr8:104310400-104311400	Active TSS	Muscle Satellite Cultured Cells	--
15	chr8:104310400-104311600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:104310400-104311600	Active TSS	Brain Substantia Nigra	brain
17	chr8:104310400-104311800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr8:104310400-104311800	Active TSS	Colon Smooth Muscle	Colon
19	chr8:104310400-104311800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
20	chr8:104310400-104311800	Active TSS	Pancreas	Pancrea
21	chr8:104310400-104311800	Active TSS	GM12878-XiMat	blood
22	chr8:104310400-104311800	Active TSS	HSMM	muscle
23	chr8:104310400-104311800	Active TSS	HSMMtube	muscle
24	chr8:104310400-104311800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
25	chr8:104310400-104311800	Active TSS	NHDF-Ad	bronchial
26	chr8:104310400-104312000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:104310400-104312000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr8:104310400-104312000	Active TSS	Duodenum Mucosa	Duodenum
29	chr8:104310400-104312000	Active TSS	Placenta Amnion	Placenta Amnion
30	chr8:104310400-104312000	Active TSS	Thymus	Thymus
31	chr8:104310400-104312000	Active TSS	A549	lung
32	chr8:104310400-104312200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr8:104310400-104312200	Active TSS	Brain Anterior Caudate	brain
34	chr8:104310400-104312200	Active TSS	Brain Hippocampus Middle	brain
35	chr8:104310400-104312400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:104310400-104312400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:104310400-104312400	Active TSS	Right Ventricle	heart
38	chr8:104310400-104313000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:104310400-104313400	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr8:104310600-104311400	Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr8:104310600-104311400	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr8:104310600-104311600	Active TSS	Liver	Liver
43	chr8:104310600-104311600	Active TSS	Dnd41	blood
44	chr8:104310600-104311800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:104310600-104311800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:104310600-104311800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:104310600-104311800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:104310600-104311800	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:104310600-104311800	Bivalent/Poised TSS	Fetal Brain Female	brain
50	chr8:104310600-104311800	Active TSS	Placenta	Placenta

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