Variant report

Variant	rs150216759
Chromosome Location	chr8:103874675-103874676
allele	A/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	POLR2A	chr8:103874545-103875750	HCT-116	colon:	n/a	n/a
2	TEAD4	chr8:103874310-103875697	K562	blood:	n/a	n/a
3	TBP	chr8:103874663-103877597	K562	blood:	n/a	n/a
4	MTA3	chr8:103874671-103875666	GM12878	blood:	n/a	n/a
5	TCF7L2	chr8:103874532-103875569	PANC-1	pancreas:	n/a	chr8:103874845-103874859 chr8:103874868-103874882
6	GATA1	chr8:103874356-103875744	PBDE	blood:	n/a	n/a
7	CTCF	chr8:103874160-103875863	A549	lung:	n/a	chr8:103875705-103875723 chr8:103875428-103875437
8	ATF2	chr8:103874486-103875814	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:103874368-103875732	HepG2	liver:	n/a	n/a
10	POLR2A	chr8:103874620-103875833	GM12892	blood:	n/a	n/a
11	MAX	chr8:103874636-103877375	MCF-7	breast:	n/a	chr8:103876711-103876721 chr8:103876030-103876039 chr8:103877043-103877052
12	MAZ	chr8:103874644-103877775	IMR90	lung:	n/a	chr8:103876711-103876721 chr8:103876030-103876039 chr8:103877043-103877052
13	RCOR1	chr8:103874589-103874761	K562	blood:	n/a	n/a
14	MYC	chr8:103874592-103875808	A549	lung:	n/a	n/a
15	SIN3AK20	chr8:103874449-103878043	MCF-7	breast:	n/a	n/a
16	TCF7L2	chr8:103874497-103875408	HEK293	kidney:	n/a	chr8:103874845-103874859 chr8:103874868-103874882
17	RFX5	chr8:103874657-103874677	GM12878	blood:	n/a	n/a
18	SRF	chr8:103874647-103875753	MCF-7	breast:	n/a	chr8:103875627-103875637 chr8:103875647-103875657
19	POLR2A	chr8:103874668-103874681	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr8:103874637-103875553	A549	lung:	n/a	n/a
21	RFX5	chr8:103874126-103875813	SK-N-SH	brain:	n/a	chr8:103875205-103875220 chr8:103875237-103875252
22	POLR2A	chr8:103874500-103875742	MCF10A-Er-Src	breast:	n/a	n/a
23	MXI1	chr8:103874237-103878385	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr8:103874565-103875729	PBDE	blood:	n/a	n/a
25	MXI1	chr8:103874629-103877786	IMR90	lung:	n/a	n/a
26	POLR2A	chr8:103874202-103874685	GM12891	blood:	n/a	n/a
27	POLR2A	chr8:103874281-103875783	HepG2	liver:	n/a	n/a
28	REST	chr8:103874631-103877446	H1-neurons	neurons:	n/a	chr8:103876625-103876635 chr8:103876887-103876900 chr8:103876453-103876466 chr8:103875919-103875929 chr8:103876795-103876804
29	JUND	chr8:103874624-103875604	K562	blood:	n/a	chr8:103874688-103874697 chr8:103875562-103875571 chr8:103875245-103875256 chr8:103875558-103875567
30	POLR2A	chr8:103874293-103875747	K562	blood:	n/a	n/a
31	POLR2A	chr8:103873647-103878981	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr8:103874394-103877480	IMR90	lung:	n/a	n/a
33	JUN	chr8:103874174-103875784	K562	blood:	n/a	chr8:103874688-103874697 chr8:103875562-103875571 chr8:103875558-103875567
34	HCFC1	chr8:103874564-103875827	Hela-S3	cervix:	n/a	n/a
35	HEY1	chr8:103874104-103875840	K562	blood:	n/a	chr8:103875558-103875573 chr8:103875313-103875328
36	POLR2A	chr8:103873366-103877265	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr8:103874636-103877048	GM12878	blood:	n/a	chr8:103875769-103875779 chr8:103876251-103876258 chr8:103875447-103875457
38	POLR2A	chr8:103873769-103875825	GM12878	blood:	n/a	n/a
39	TAL1	chr8:103874646-103875486	K562	blood:	n/a	n/a
40	SIN3AK20	chr8:103874657-103877598	HCT-116	colon:	n/a	n/a
41	SIN3A	chr8:103874250-103877166	H1-hESC	embryonic stem cell:	n/a	chr8:103875966-103875977 chr8:103877043-103877052 chr8:103875981-103875994
42	CCNT2	chr8:103874630-103877044	K562	blood:	n/a	chr8:103875687-103875696 chr8:103876551-103876560 chr8:103875626-103875635
43	GATA3	chr8:103874619-103874734	SH-SY5Y	brain:	n/a	n/a
44	CHD1	chr8:103874218-103877850	IMR90	lung:	n/a	chr8:103875769-103875779 chr8:103876251-103876258 chr8:103875447-103875457
45	POLR2A	chr8:103873882-103877285	GM12878	blood:	n/a	n/a
46	POLR2A	chr8:103874635-103875883	GM12878	blood:	n/a	n/a
47	MAX	chr8:103874670-103877448	HCT-116	colon:	n/a	chr8:103876711-103876721 chr8:103876030-103876039 chr8:103877043-103877052
48	CHD1	chr8:103874255-103877941	H1-hESC	embryonic stem cell:	n/a	chr8:103875769-103875779 chr8:103876251-103876258 chr8:103875447-103875457

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	chr8:103848297..103849915-chr8:103872924..103874718,2	K562	blood:
6	chr8:103818013..103820619-chr8:103873753..103877719,3	K562	blood:
7	chr8:103845693..103863418-chr8:103873617..103879329,26	MCF-7	breast:
8	chr8:103864345..103865888-chr8:103874121..103876056,2	MCF-7	breast:
9	chr8:103874072..103879942-chr8:103913926..103921009,16	MCF-7	breast:
10	chr8:103873594..103879966-chr8:104029090..104036191,28	MCF-7	breast:
11	chr8:103838838..103843529-chr8:103874630..103876913,6	K562	blood:
12	chr8:103873381..103878542-chr8:103897806..103904719,11	MCF-7	breast:
13	chr8:103874643..103878099-chr8:104031324..104040310,20	MCF-7	breast:
14	chr8:103845834..103848261-chr8:103873749..103875544,2	MCF-7	breast:
15	chr8:103666126..103668691-chr8:103874120..103876148,4	MCF-7	breast:
16	chr8:103873731..103878652-chr8:103915000..103924941,17	MCF-7	breast:
17	chr8:103839572..103843466-chr8:103874674..103877109,4	K562	blood:
18	chr8:103874529..103876453-chr8:103970493..103973590,3	K562	blood:
19	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
20	chr8:103845726..103848177-chr8:103872999..103876884,3	K562	blood:
21	chr8:103873561..103877987-chr8:104030387..104035295,15	K562	blood:
22	chr8:103874632..103878836-chr8:104074842..104078968,5	MCF-7	breast:
23	chr8:103421430..103426226-chr8:103872960..103876390,5	K562	blood:
24	chr8:103666551..103669632-chr8:103873253..103876487,4	K562	blood:

Variant related genes	Relation type
ENSG00000253320	TF binding region
AZIN1	TF binding region
ENSG00000254236	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000253263	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000265898	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000155096	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	chr8:103862400-103874800	Weak transcription	Aorta	Aorta
2	chr8:103862400-103874800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:103866800-103874800	Weak transcription	Lung	lung
4	chr8:103871600-103874800	Weak transcription	Stomach Mucosa	stomach
5	chr8:103872000-103874800	Weak transcription	Gastric	stomach
6	chr8:103872200-103874800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:103872200-103874800	Weak transcription	Esophagus	oesophagus
8	chr8:103872200-103874800	Weak transcription	Ovary	ovary
9	chr8:103872200-103874800	Active TSS	Right Atrium	heart
10	chr8:103872400-103877200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr8:103872800-103874800	Enhancers	Primary B cells from peripheral blood	blood
12	chr8:103872800-103878000	Active TSS	H1 Cell Line	embryonic stem cell
13	chr8:103873000-103876800	Active TSS	Placenta	Placenta
14	chr8:103873000-103877600	Active TSS	GM12878-XiMat	blood
15	chr8:103873000-103877800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr8:103873200-103877400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:103873200-103877400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:103873200-103877400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr8:103873400-103874800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:103873400-103874800	Enhancers	Left Ventricle	heart
21	chr8:103873400-103874800	Enhancers	Small Intestine	intestine
22	chr8:103873400-103877200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:103873400-103877200	Active TSS	Pancreas	Pancrea
24	chr8:103873400-103877400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr8:103873400-103877400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr8:103873400-103877600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:103873600-103874800	Active TSS	NHLF	lung
28	chr8:103873600-103875000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr8:103873600-103876200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:103873600-103877800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:103873800-103875200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
32	chr8:103873800-103875400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:103873800-103877000	Active TSS	HMEC	breast
34	chr8:103873800-103877400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:103873800-103877600	Active TSS	HSMM	muscle
36	chr8:103873800-103877800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr8:103874000-103874800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:103874000-103875000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:103874000-103875000	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr8:103874000-103875600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:103874000-103877600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:103874200-103874800	Flanking Active TSS	Dnd41	blood
43	chr8:103874200-103874800	Flanking Active TSS	NH-A	brain
44	chr8:103874200-103874800	Flanking Active TSS	NHEK	skin
45	chr8:103874200-103875000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:103874200-103875000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:103874200-103875000	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr8:103874200-103875000	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr8:103874200-103875000	Enhancers	Spleen	Spleen
50	chr8:103874200-103875000	Flanking Active TSS	Hela-S3	cervix

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