Variant report

Variant	rs538083763
Chromosome Location	chr15:34394634-34394635
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	POLR2A	chr15:34393721-34394740	GM12878	blood:	n/a	n/a
2	TAF1	chr15:34393457-34394712	A549	lung:	n/a	n/a
3	SIN3AK20	chr15:34393436-34394804	MCF-7	breast:	n/a	n/a
4	ARID3A	chr15:34393681-34394773	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:34393641-34394676	GM12892	blood:	n/a	n/a
6	POLR2A	chr15:34393423-34394674	HUVEC	blood vessel:	n/a	n/a
7	BCL3	chr15:34393590-34394781	A549	lung:	n/a	chr15:34394101-34394110 chr15:34394101-34394114
8	GATA2	chr15:34393616-34395473	SH-SY5Y	brain:	n/a	n/a
9	MAX	chr15:34393913-34394712	MCF-7	breast:	n/a	n/a
10	GABPA	chr15:34393604-34394771	A549	lung:	n/a	n/a
11	USF1	chr15:34394063-34394668	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCLAF1	chr15:34393725-34394641	GM12878	blood:	n/a	chr15:34394101-34394110 chr15:34394101-34394114
13	POLR2A	chr15:34393618-34394658	U87	brain:	n/a	n/a
14	GABPA	chr15:34393765-34394718	A549	lung:	n/a	n/a
15	MEF2C	chr15:34393852-34394743	GM12878	blood:	n/a	n/a
16	NFIC	chr15:34393874-34394637	HepG2	liver:	n/a	n/a
17	ELK4	chr15:34393847-34394650	Hela-S3	cervix:	n/a	chr15:34394204-34394215 chr15:34394215-34394226
18	MAX	chr15:34393670-34394773	HCT-116	colon:	n/a	n/a
19	TBP	chr15:34393677-34394705	K562	blood:	n/a	n/a
20	POLR2A	chr15:34393712-34395344	GM12891	blood:	n/a	n/a
21	MAX	chr15:34393434-34394849	A549	lung:	n/a	n/a
22	POLR2A	chr15:34393704-34394643	GM12892	blood:	n/a	n/a
23	MTA3	chr15:34393479-34394673	GM12878	blood:	n/a	n/a
24	POLR2A	chr15:34393733-34394664	MCF-7	breast:	n/a	n/a
25	RCOR1	chr15:34393689-34394646	HepG2	liver:	n/a	n/a
26	CUX1	chr15:34394010-34394687	K562	blood:	n/a	n/a
27	ELF1	chr15:34393768-34394668	A549	lung:	n/a	chr15:34394204-34394213 chr15:34394092-34394104 chr15:34394215-34394224
28	YY1	chr15:34393330-34394689	SK-N-SH	brain:	n/a	chr15:34394099-34394110 chr15:34394094-34394108 chr15:34393596-34393616 chr15:34394103-34394117
29	MXI1	chr15:34393580-34394649	GM12878	blood:	n/a	n/a
30	TCF7L2	chr15:34393862-34394662	Hela-S3	cervix:	n/a	chr15:34394451-34394460 chr15:34394449-34394463
31	POLR2A	chr15:34393615-34394735	HUVEC	blood vessel:	n/a	n/a
32	USF1	chr15:34393980-34394741	A549	lung:	n/a	n/a
33	MYC	chr15:34393836-34394718	K562	blood:	n/a	n/a
34	PML	chr15:34393644-34394778	GM12878	blood:	n/a	n/a
35	POLR2A	chr15:34393333-34395061	IMR90	lung:	n/a	n/a
36	FOXM1	chr15:34393846-34394676	GM12878	blood:	n/a	n/a
37	ATF2	chr15:34393805-34394669	GM12878	blood:	n/a	n/a
38	ELF1	chr15:34393645-34394724	HCT-116	colon:	n/a	chr15:34394204-34394213 chr15:34394092-34394104 chr15:34394215-34394224
39	MAX	chr15:34393737-34394683	SK-N-SH	brain:	n/a	n/a
40	MAX	chr15:34393704-34394724	HepG2	liver:	n/a	n/a
41	MAX	chr15:34393961-34394643	K562	blood:	n/a	n/a
42	CREB1	chr15:34393597-34394654	K562	blood:	n/a	n/a
43	CREB1	chr15:34393634-34394708	A549	lung:	n/a	n/a
44	REST	chr15:34393371-34394709	H1-neurons	neurons:	n/a	n/a
45	RELA	chr15:34393880-34394738	GM19099	blood:	n/a	n/a
46	USF1	chr15:34393799-34394888	SK-N-SH	brain:	n/a	n/a
47	GATA1	chr15:34393819-34395039	PBDE	blood:	n/a	n/a
48	POLR2A	chr15:34393598-34394659	HL-60	blood:	n/a	n/a
49	POLR2A	chr15:34393488-34394749	GM12878	blood:	n/a	n/a
50	USF1	chr15:34393996-34394750	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:34391885..34395742-chr15:34500701..34502399,4	K562	blood:
2	chr14:35342985..35344751-chr15:34393746..34395266,2	MCF-7	breast:
3	chr15:34391770..34396248-chr15:34515474..34518631,5	K562	blood:
4	chr15:34393027..34397233-chr15:34658612..34660877,5	K562	blood:
5	chr15:34392784..34394847-chr15:34629052..34631553,2	K562	blood:
6	chr15:34393027..34394938-chr15:34659377..34661190,2	K562	blood:
7	chr15:34394473..34397367-chr15:34405065..34407483,2	K562	blood:
8	chr15:34391225..34395745-chr15:34498845..34504196,8	K562	blood:
9	chr15:34392855..34396101-chr15:34515904..34518783,5	MCF-7	breast:
10	chr15:34393239..34395470-chr15:34515986..34518807,4	MCF-7	breast:
11	chr15:34394445..34396841-chr15:34644524..34647284,2	K562	blood:

Variant related genes	Relation type
EMC7	TF binding region
ENSG00000134152	Chromatin interaction
ENSG00000258738	Chromatin interaction
ENSG00000140199	Chromatin interaction
ENSG00000198604	Chromatin interaction
ENSG00000128463	Chromatin interaction
ENSG00000176454	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1035579	chr15:34363159-34501115	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv903986	chr15:34394273-34421951	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34391800-34394800	Active TSS	GM12878-XiMat	blood
2	chr15:34392400-34394800	Active TSS	K562	blood
3	chr15:34392400-34394800	Active TSS	NHLF	lung
4	chr15:34392400-34395400	Active TSS	Psoas Muscle	Psoas
5	chr15:34392600-34395000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:34392600-34395000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr15:34392600-34395000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:34392600-34395200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:34392800-34394800	Active TSS	Fetal Intestine Small	intestine
10	chr15:34392800-34394800	Active TSS	Fetal Muscle Leg	muscle
11	chr15:34392800-34394800	Active TSS	Right Atrium	heart
12	chr15:34392800-34394800	Active TSS	HSMMtube	muscle
13	chr15:34392800-34395200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr15:34392800-34395200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:34392800-34395400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr15:34392800-34395600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr15:34393000-34394800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr15:34393000-34394800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:34393000-34394800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:34393000-34394800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:34393000-34394800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:34393000-34394800	Active TSS	Fetal Stomach	stomach
23	chr15:34393000-34394800	Active TSS	Fetal Thymus	thymus
24	chr15:34393000-34394800	Active TSS	Left Ventricle	heart
25	chr15:34393000-34394800	Active TSS	NHDF-Ad	bronchial
26	chr15:34393000-34394800	Active TSS	NHEK	skin
27	chr15:34393000-34395000	Active TSS	H9 Cell Line	embryonic stem cell
28	chr15:34393000-34395000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:34393000-34395000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:34393000-34395000	Active TSS	Aorta	Aorta
31	chr15:34393000-34395000	Active TSS	Fetal Muscle Trunk	muscle
32	chr15:34393000-34395000	Active TSS	Ovary	ovary
33	chr15:34393000-34395000	Active TSS	Right Ventricle	heart
34	chr15:34393000-34395000	Active TSS	Stomach Mucosa	stomach
35	chr15:34393200-34394800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr15:34393200-34394800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr15:34393200-34394800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr15:34393200-34394800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr15:34393200-34394800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr15:34393200-34394800	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr15:34393200-34394800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:34393200-34394800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:34393200-34394800	Active TSS	Brain Anterior Caudate	brain
44	chr15:34393200-34394800	Active TSS	Brain Cingulate Gyrus	brain
45	chr15:34393200-34394800	Active TSS	Colon Smooth Muscle	Colon
46	chr15:34393200-34394800	Active TSS	Thymus	Thymus
47	chr15:34393200-34394800	Active TSS	A549	lung
48	chr15:34393200-34394800	Active TSS	Dnd41	blood
49	chr15:34393200-34394800	Active TSS	HMEC	breast
50	chr15:34393200-34394800	Active TSS	HSMM	muscle

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