Variant report

Variant	rs28520393
Chromosome Location	chr8:130899331-130899332
allele	C/T
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	chr8:130898928-130899425	SK-N-SH	brain:	n/a	n/a
2	JUND	chr8:130899036-130899431	Hela-S3	cervix:	n/a	n/a
3	MYC	chr8:130899032-130899493	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr8:130899149-130899386	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr8:130898941-130899421	Hela-S3	cervix:	n/a	n/a
6	TFAP2C	chr8:130898834-130899900	Hela-S3	cervix:	n/a	n/a
7	E2F4	chr8:130899085-130899449	MCF10A-Er-Src	breast:	n/a	chr8:130899268-130899277
8	CHD2	chr8:130898950-130899415	Hela-S3	cervix:	n/a	n/a
9	FOS	chr8:130899029-130899493	MCF10A-Er-Src	breast:	n/a	n/a
10	TBP	chr8:130899163-130899421	Hela-S3	cervix:	n/a	n/a
11	RCOR1	chr8:130899048-130899441	Hela-S3	cervix:	n/a	n/a
12	TFAP2A	chr8:130898844-130899823	Hela-S3	cervix:	n/a	chr8:130899323-130899338
13	POLR2A	chr8:130899261-130899487	Hela-S3	cervix:	n/a	n/a
14	STAT3	chr8:130898971-130899477	MCF10A-Er-Src	breast:	n/a	n/a
15	MYC	chr8:130899079-130899509	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr8:130899126-130899348	MCF10A-Er-Src	breast:	n/a	n/a
17	MXI1	chr8:130898877-130899434	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr8:130899298-130899334	Hela-S3	cervix:	n/a	n/a
19	TCF7L2	chr8:130898823-130899899	Hela-S3	cervix:	n/a	n/a
20	FOS	chr8:130899029-130899496	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr8:130899295-130899515	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr8:130899053-130899389	MCF10A-Er-Src	breast:	n/a	n/a
23	MAZ	chr8:130899029-130899441	Hela-S3	cervix:	n/a	n/a
24	FOS	chr8:130899047-130899428	MCF10A-Er-Src	breast:	n/a	n/a
25	RFX5	chr8:130898970-130899488	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130899088..130900930-chr8:130904428..130906156,2	K562	blood:
2	chr8:130838576..130840911-chr8:130898985..130901514,2	K562	blood:

Variant related genes	Relation type
ENSG00000254263	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10087750	1.00[EUR][1000 genomes]
rs10090126	1.00[EUR][1000 genomes]
rs10091204	1.00[EUR][1000 genomes]
rs10091754	1.00[EUR][1000 genomes]
rs10093443	1.00[EUR][1000 genomes]
rs10095752	1.00[EUR][1000 genomes]
rs10097321	1.00[EUR][1000 genomes]
rs10098794	1.00[EUR][1000 genomes]
rs10101179	1.00[EUR][1000 genomes]
rs10102037	1.00[EUR][1000 genomes]
rs10108374	1.00[EUR][1000 genomes]
rs10283332	1.00[EUR][1000 genomes]
rs11984716	1.00[EUR][1000 genomes]
rs12334601	1.00[EUR][1000 genomes]
rs1349847	1.00[ASN][1000 genomes]
rs16904151	1.00[EUR][1000 genomes]
rs1871943	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28380012	1.00[EUR][1000 genomes]
rs28417973	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28472437	1.00[EUR][1000 genomes]
rs28533697	1.00[EUR][1000 genomes]
rs28550585	1.00[EUR][1000 genomes]
rs28578248	1.00[EUR][1000 genomes]
rs28593681	1.00[EUR][1000 genomes]
rs28633939	1.00[EUR][1000 genomes]
rs28656330	1.00[EUR][1000 genomes]
rs28682337	1.00[EUR][1000 genomes]
rs28685780	1.00[EUR][1000 genomes]
rs28795370	1.00[EUR][1000 genomes]
rs55662234	1.00[EUR][1000 genomes]
rs55755123	1.00[EUR][1000 genomes]
rs55864361	1.00[EUR][1000 genomes]
rs55878330	1.00[ASN][1000 genomes]
rs56770303	1.00[EUR][1000 genomes]
rs58136260	1.00[EUR][1000 genomes]
rs59372581	1.00[EUR][1000 genomes]
rs59501802	1.00[EUR][1000 genomes]
rs59799475	1.00[EUR][1000 genomes]
rs60229064	1.00[EUR][1000 genomes]
rs60282920	1.00[EUR][1000 genomes]
rs60366798	1.00[EUR][1000 genomes]
rs60403203	1.00[EUR][1000 genomes]
rs61417675	1.00[EUR][1000 genomes]
rs66523355	1.00[ASN][1000 genomes]
rs6999729	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6999887	1.00[EUR][1000 genomes]
rs7011549	1.00[EUR][1000 genomes]
rs7013939	1.00[EUR][1000 genomes]
rs7016402	1.00[ASN][1000 genomes]
rs72720325	1.00[ASN][1000 genomes]
rs72720337	1.00[ASN][1000 genomes]
rs72720345	1.00[ASN][1000 genomes]
rs72720346	1.00[ASN][1000 genomes]
rs72720350	1.00[ASN][1000 genomes]
rs72720351	1.00[ASN][1000 genomes]
rs72720353	1.00[ASN][1000 genomes]
rs72720360	1.00[ASN][1000 genomes]
rs72720361	1.00[ASN][1000 genomes]
rs72720362	1.00[ASN][1000 genomes]
rs72720365	1.00[ASN][1000 genomes]
rs73712950	1.00[EUR][1000 genomes]
rs73712955	1.00[EUR][1000 genomes]
rs73712957	1.00[EUR][1000 genomes]
rs73712989	1.00[EUR][1000 genomes]
rs7812685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812863	1.00[EUR][1000 genomes]
rs7814585	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7825122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7831443	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9693205	1.00[EUR][1000 genomes]
rs9886600	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130864400-130903600	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:130865600-130907600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:130875800-130899400	Weak transcription	Fetal Intestine Large	intestine
4	chr8:130883400-130899400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:130883400-130900400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:130885200-130900200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:130885200-130912200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:130888600-130899400	Weak transcription	Fetal Stomach	stomach
9	chr8:130888800-130910600	Weak transcription	Aorta	Aorta
10	chr8:130893800-130899800	Enhancers	Hela-S3	cervix
11	chr8:130894400-130901000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:130894600-130899800	Enhancers	HSMM	muscle
13	chr8:130894600-130900000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:130894600-130901000	Enhancers	HUVEC	blood vessel
15	chr8:130894800-130901000	Enhancers	HMEC	breast
16	chr8:130895000-130900200	Enhancers	HSMMtube	muscle
17	chr8:130895200-130901000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:130895600-130900800	Enhancers	Fetal Heart	heart
19	chr8:130895800-130899400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:130895800-130899600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:130895800-130899600	Enhancers	Osteobl	bone
22	chr8:130895800-130900800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:130896000-130899400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:130896400-130899600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr8:130896400-130902000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:130896400-130906600	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:130896600-130899600	Enhancers	A549	lung
28	chr8:130897000-130899400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr8:130897000-130899600	Enhancers	Primary T cells from cord blood	blood
30	chr8:130897000-130900000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr8:130897000-130901200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr8:130897200-130899600	Enhancers	NH-A	brain
33	chr8:130897200-130900000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr8:130897200-130902000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:130897400-130899400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:130897400-130899600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:130897400-130899600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr8:130897400-130899600	Enhancers	Thymus	Thymus
39	chr8:130897400-130900000	Enhancers	K562	blood
40	chr8:130897400-130900400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:130897400-130900600	Enhancers	Right Atrium	heart
42	chr8:130897400-130901400	Enhancers	Fetal Thymus	thymus
43	chr8:130897400-130902400	Genic enhancers	Primary B cells from cord blood	blood
44	chr8:130897600-130899400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:130897600-130899600	Enhancers	Brain Substantia Nigra	brain
46	chr8:130897600-130899800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:130897600-130899800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr8:130897600-130900000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:130897600-130900000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:130897600-130900000	Enhancers	Brain Angular Gyrus	brain

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