Variant report

Variant	rs144744950
Chromosome Location	chr8:103875154-103875155
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	TCF12	chr8:103874891-103875709	A549	lung:	n/a	n/a
2	STAT1	chr8:103875024-103875579	GM12878	blood:	n/a	chr8:103875470-103875477
3	MYBL2	chr8:103875071-103875558	HepG2	liver:	n/a	n/a
4	SIN3AK20	chr8:103875118-103875646	PANC-1	pancreas:	n/a	n/a
5	ATF2	chr8:103874859-103875685	GM12878	blood:	n/a	n/a
6	FOS	chr8:103875093-103875469	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr8:103875145-103875420	MCF10A-Er-Src	breast:	n/a	n/a
8	EBF1	chr8:103875028-103875551	GM12878	blood:	n/a	n/a
9	MXI1	chr8:103875043-103875650	Hela-S3	cervix:	n/a	n/a
10	EBF1	chr8:103875132-103875592	GM12878	blood:	n/a	n/a
11	MYC	chr8:103875012-103875539	MCF10A-Er-Src	breast:	n/a	n/a
12	CTCF	chr8:103875113-103875784	K562	blood:	n/a	chr8:103875705-103875723 chr8:103875428-103875437
13	POLR2A	chr8:103874545-103875750	HCT-116	colon:	n/a	n/a
14	POLR2A	chr8:103874744-103875851	H1-hESC	embryonic stem cell:	n/a	n/a
15	ETS1	chr8:103875139-103875714	GM12878	blood:	n/a	chr8:103875590-103875601 chr8:103875471-103875478 chr8:103875557-103875568 chr8:103875439-103875452 chr8:103875392-103875403
16	REST	chr8:103875005-103875612	PFSK-1	brain:	n/a	n/a
17	JUND	chr8:103875101-103875511	HepG2	liver:	n/a	chr8:103875245-103875256
18	YY1	chr8:103875022-103875615	ECC-1	luminal epithelium:	n/a	chr8:103875592-103875601 chr8:103875549-103875563 chr8:103875313-103875324 chr8:103875392-103875401 chr8:103875595-103875609
19	POLR2A	chr8:103875053-103878061	K562	blood:	n/a	n/a
20	JUND	chr8:103874897-103875840	MCF-7	breast:	n/a	chr8:103875562-103875571 chr8:103875245-103875256 chr8:103875558-103875567
21	TEAD4	chr8:103874310-103875697	K562	blood:	n/a	n/a
22	REST	chr8:103874998-103875674	PFSK-1	brain:	n/a	n/a
23	TAF1	chr8:103874894-103875593	PFSK-1	brain:	n/a	n/a
24	YY1	chr8:103875096-103875656	GM12891	blood:	n/a	chr8:103875592-103875601 chr8:103875549-103875563 chr8:103875313-103875324 chr8:103875392-103875401 chr8:103875595-103875609
25	ELF1	chr8:103875033-103875525	A549	lung:	n/a	n/a
26	TBP	chr8:103874985-103875714	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr8:103874818-103875623	HepG2	liver:	n/a	n/a
28	MTA3	chr8:103874856-103875579	GM12878	blood:	n/a	n/a
29	YY1	chr8:103874979-103876109	SK-N-SH_RA	brain:	n/a	chr8:103875894-103875916 chr8:103875915-103875924 chr8:103875592-103875601 chr8:103875945-103875954 chr8:103875549-103875563 chr8:103875894-103875904 chr8:103875966-103875977 chr8:103875890-103875899 chr8:103875313-103875324 chr8:103875392-103875401 chr8:103875892-103875911 chr8:103875595-103875609
30	SIN3AK20	chr8:103874967-103875732	H1-hESC	embryonic stem cell:	n/a	n/a
31	RELA	chr8:103874902-103875745	GM12891	blood:	n/a	n/a
32	SP2	chr8:103875122-103875467	K562	blood:	n/a	chr8:103875282-103875305
33	POLR2A	chr8:103874998-103877226	ProgFib	skin:	n/a	n/a
34	GATA3	chr8:103874996-103875628	T-47D	breast:	n/a	n/a
35	TBP	chr8:103874663-103877597	K562	blood:	n/a	n/a
36	NFIC	chr8:103875008-103875694	GM12878	blood:	n/a	n/a
37	MTA3	chr8:103874671-103875666	GM12878	blood:	n/a	n/a
38	TCF7L2	chr8:103874532-103875569	PANC-1	pancreas:	n/a	chr8:103874845-103874859 chr8:103874868-103874882
39	HDAC2	chr8:103875061-103875616	HepG2	liver:	n/a	n/a
40	MYC	chr8:103875122-103875575	H1-hESC	embryonic stem cell:	n/a	n/a
41	ATF3	chr8:103875038-103875607	K562	blood:	n/a	chr8:103875449-103875458
42	MAFF	chr8:103874699-103875368	K562	blood:	n/a	n/a
43	FOSL1	chr8:103875132-103875405	K562	blood:	n/a	chr8:103875245-103875256
44	GATA1	chr8:103874356-103875744	PBDE	blood:	n/a	n/a
45	RAD21	chr8:103875049-103875575	MCF-7	breast:	n/a	n/a
46	SP2	chr8:103875067-103875515	HepG2	liver:	n/a	chr8:103875282-103875305
47	GABPA	chr8:103875059-103875515	A549	lung:	n/a	chr8:103875451-103875460 chr8:103875449-103875458
48	CTCF	chr8:103874160-103875863	A549	lung:	n/a	chr8:103875705-103875723 chr8:103875428-103875437
49	RELA	chr8:103875123-103875546	GM19099	blood:	n/a	n/a
50	ATF2	chr8:103874865-103875574	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
2	chr8:103613879..103615577-chr8:103873601..103875436,2	MCF-7	breast:
3	chr8:103249660..103252444-chr8:103873911..103876787,3	K562	blood:
4	chr8:103422749..103426860-chr8:103874401..103878662,6	MCF-7	breast:
5	chr8:103874946..103878144-chr8:103904857..103910279,6	MCF-7	breast:
6	chr8:103818013..103820619-chr8:103873753..103877719,3	K562	blood:
7	chr8:103874816..103877664-chr8:103936329..103938732,4	MCF-7	breast:
8	chr8:103845693..103863418-chr8:103873617..103879329,26	MCF-7	breast:
9	chr8:103864345..103865888-chr8:103874121..103876056,2	MCF-7	breast:
10	chr8:103874072..103879942-chr8:103913926..103921009,16	MCF-7	breast:
11	chr8:103873594..103879966-chr8:104029090..104036191,28	MCF-7	breast:
12	chr8:103838838..103843529-chr8:103874630..103876913,6	K562	blood:
13	chr8:103875054..103878103-chr8:104425943..104429059,5	K562	blood:
14	chr8:103422495..103425381-chr8:103875147..103876814,2	MCF-7	breast:
15	chr8:103875112..103879316-chr8:103972204..103974673,4	MCF-7	breast:
16	chr8:103664543..103668719-chr8:103874742..103878936,8	MCF-7	breast:
17	chr8:103873381..103878542-chr8:103897806..103904719,11	MCF-7	breast:
18	chr8:103874643..103878099-chr8:104031324..104040310,20	MCF-7	breast:
19	chr8:103845834..103848261-chr8:103873749..103875544,2	MCF-7	breast:
20	chr8:103875112..103878223-chr8:103936319..103939684,4	K562	blood:
21	chr8:103666126..103668691-chr8:103874120..103876148,4	MCF-7	breast:
22	chr8:103873731..103878652-chr8:103915000..103924941,17	MCF-7	breast:
23	chr8:103874799..103876980-chr8:104425955..104427549,2	MCF-7	breast:
24	chr8:103839572..103843466-chr8:103874674..103877109,4	K562	blood:
25	chr8:103874529..103876453-chr8:103970493..103973590,3	K562	blood:
26	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
27	chr8:103845726..103848177-chr8:103872999..103876884,3	K562	blood:
28	chr8:103873561..103877987-chr8:104030387..104035295,15	K562	blood:
29	chr8:103874632..103878836-chr8:104074842..104078968,5	MCF-7	breast:
30	chr8:103421430..103426226-chr8:103872960..103876390,5	K562	blood:
31	chr8:103666551..103669632-chr8:103873253..103876487,4	K562	blood:

Variant related genes	Relation type
AZIN1	TF binding region
ENSG00000253320	TF binding region
ENSG00000246263	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000254236	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000244052	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000253263	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000265898	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv3445834	chr8:103874576-103877824	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103872400-103877200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr8:103872800-103878000	Active TSS	H1 Cell Line	embryonic stem cell
3	chr8:103873000-103876800	Active TSS	Placenta	Placenta
4	chr8:103873000-103877600	Active TSS	GM12878-XiMat	blood
5	chr8:103873000-103877800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr8:103873200-103877400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:103873200-103877400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:103873200-103877400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr8:103873400-103877200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:103873400-103877200	Active TSS	Pancreas	Pancrea
11	chr8:103873400-103877400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr8:103873400-103877400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr8:103873400-103877600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:103873600-103876200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:103873600-103877800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:103873800-103875200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
17	chr8:103873800-103875400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:103873800-103877000	Active TSS	HMEC	breast
19	chr8:103873800-103877400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:103873800-103877600	Active TSS	HSMM	muscle
21	chr8:103873800-103877800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr8:103874000-103875600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:103874000-103877600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:103874200-103875200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:103874200-103875200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr8:103874200-103875200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr8:103874200-103875200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:103874200-103875200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr8:103874200-103875200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:103874200-103875200	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr8:103874200-103875200	Flanking Active TSS	HUVEC	blood vessel
32	chr8:103874200-103875200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr8:103874200-103876800	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr8:103874200-103877400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:103874200-103877400	Active TSS	Right Ventricle	heart
36	chr8:103874200-103877400	Active TSS	NHDF-Ad	bronchial
37	chr8:103874200-103877800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr8:103874200-103877800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:103874400-103875200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:103874400-103875200	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr8:103874400-103875200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:103874400-103875200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr8:103874400-103875200	Flanking Active TSS	Fetal Brain Male	brain
44	chr8:103874400-103875200	Flanking Active TSS	Fetal Heart	heart
45	chr8:103874400-103875200	Flanking Active TSS	Fetal Lung	lung
46	chr8:103874400-103875200	Flanking Active TSS	Fetal Thymus	thymus
47	chr8:103874400-103875200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr8:103874400-103875200	Transcr. at gene 5' and 3'	K562	blood
49	chr8:103874400-103875400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:103874400-103876800	Active TSS	Primary T cells fromperipheralblood	blood

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