Variant report

Variant	rs73788817
Chromosome Location	chr6:147528571-147528572
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr6:147528297-147529128	K562	blood:	n/a	chr6:147528805-147528819 chr6:147528795-147528806 chr6:147528805-147528816 chr6:147528794-147528804 chr6:147528914-147528928
2	POLR2A	chr6:147528550-147528887	K562	blood:	n/a	n/a
3	BCLAF1	chr6:147528369-147529033	K562	blood:	n/a	chr6:147528794-147528803
4	ZNF143	chr6:147528533-147528887	K562	blood:	n/a	n/a
5	CCNT2	chr6:147528484-147528732	K562	blood:	n/a	n/a
6	ARID3A	chr6:147528435-147528992	K562	blood:	n/a	n/a
7	UBTF	chr6:147528538-147528793	K562	blood:	n/a	n/a
8	ELK1	chr6:147528469-147528669	K562	blood:	n/a	n/a
9	RCOR1	chr6:147528490-147528895	K562	blood:	n/a	n/a
10	POLR2A	chr6:147528155-147528803	MCF10A-Er-Src	breast:	n/a	n/a
11	JUND	chr6:147528522-147528822	K562	blood:	n/a	n/a
12	POLR2A	chr6:147528432-147528632	MCF10A-Er-Src	breast:	n/a	n/a
13	UBTF	chr6:147528529-147529118	K562	blood:	n/a	n/a
14	TBL1XR1	chr6:147528554-147530093	K562	blood:	n/a	n/a
15	POLR2A	chr6:147528037-147532233	K562	blood:	n/a	n/a
16	ZC3H11A	chr6:147528555-147528842	K562	blood:	n/a	n/a
17	MAFF	chr6:147528401-147528809	K562	blood:	n/a	n/a
18	FOS	chr6:147528150-147528611	MCF10A-Er-Src	breast:	n/a	n/a
19	BACH1	chr6:147528491-147528686	K562	blood:	n/a	n/a
20	MAFK	chr6:147528498-147528813	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:147528521-147528571	PANC-1	pancreas:	n/a
2	chr6:147528521-147528571	NB4	blood:	n/a
3	chr6:147528521-147528571	HCPEpiC	choroid plexus:	n/a
4	chr6:147528521-147528571	ovcar-3	ovarian:	n/a
5	chr6:147528521-147528571	BE2_C	brain:	n/a
6	chr6:147528521-147528571	SKMC	muscle:	n/a
7	chr6:147528521-147528571	NHBE	bronchial:	n/a
8	chr6:147528521-147528571	GM12878	blood:	n/a
9	chr6:147528521-147528571	T-47D	breast:	n/a
10	chr6:147528521-147528571	Hela-S3	cervix:	n/a
11	chr6:147528521-147528571	SK-N-SH	brain:	n/a
12	chr6:147528521-147528571	HL-60	blood:	n/a
13	chr6:147528521-147528571	GM06990	blood:	n/a
14	chr6:147528521-147528571	AG10803	skin:	n/a
15	chr6:147528521-147528571	K562	blood:	n/a
16	chr6:147528521-147528571	HNPCEpiC	eye:	n/a
17	chr6:147528521-147528571	GM19239	blood:	n/a
18	chr6:147528521-147528571	AG09319	gingival:	n/a
19	chr6:147528521-147528571	HCM	heart:	n/a
20	chr6:147528521-147528571	AG04449	skin:	fetal
21	chr6:147528521-147528571	U87	brain:	n/a
22	chr6:147528521-147528571	SK-N-SH_RA	brain:	n/a
23	chr6:147528521-147528571	A549	lung:	n/a
24	chr6:147528521-147528571	CMK	blood:	n/a
25	chr6:147528521-147528571	HUVEC	blood vessel:	n/a
26	chr6:147528521-147528571	AG09309	skin:	n/a
27	chr6:147528521-147528571	Caco-2	colon:	n/a
28	chr6:147528521-147528571	AG04450	lung:	fetal
29	chr6:147528521-147528571	PFSK-1	brain:	n/a
30	chr6:147528521-147528571	HEK293	kidney:	embryo
31	chr6:147528521-147528571	HMEC	breast:	n/a
32	chr6:147528521-147528571	NT2-D1	testis:	n/a
33	chr6:147528521-147528571	HRE	kidney:	n/a
34	chr6:147528521-147528571	MCF10A-Er-Src	breast:	n/a
35	chr6:147528521-147528571	LNCaP	prostate:	n/a
36	chr6:147528521-147528571	MCF-7	breast:	n/a
37	chr6:147528521-147528571	H1-hESC	embryonic stem cell:	embryo
38	chr6:147528521-147528571	HAEpiC	amniotic membrane:	n/a
39	chr6:147528521-147528571	HEEpiC	esophagus:	n/a
40	chr6:147528521-147528571	BJ	skin:	n/a
41	chr6:147528521-147528571	HCT-116	colon:	n/a
42	chr6:147528521-147528571	HCF	heart:	n/a
43	chr6:147528521-147528571	HRPEpiC	eye:	n/a
44	chr6:147528521-147528571	NHDF-neo	bronchial:	n/a
45	chr6:147528521-147528571	GM12892	blood:	n/a
46	chr6:147528521-147528571	SK-N-MC	brain:	n/a
47	chr6:147528521-147528571	PrEC	prostate:	n/a
48	chr6:147528521-147528571	RPTEC	kidney:	n/a
49	chr6:147528521-147528571	HepG2	liver:	n/a
50	chr6:147528521-147528571	HPAEpiC	pulmonary alveolar:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:147217369..147219463-chr6:147527173..147529417,2	K562	blood:
2	chr6:147229677..147239083-chr6:147521152..147530893,22	K562	blood:
3	chr6:147223063..147225142-chr6:147528018..147531876,3	K562	blood:
4	chr6:147177011..147178784-chr6:147528174..147531299,3	K562	blood:
5	chr6:147477631..147490692-chr6:147521132..147530003,24	K562	blood:
6	chr6:147245797..147247698-chr6:147527227..147529725,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STXBP5-4	chr6:147528560-147528688	NONHSAT115448

No data

Variant related genes	Relation type
STXBP5-AS1	TF binding region
STXBP5-AS1	CpG island
ENSG00000233452	Chromatin interaction
ENSG00000196634	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10499247	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17076671	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17076689	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17174965	1.00[ASN][1000 genomes]
rs41285881	0.85[EUR][1000 genomes]
rs58371914	0.85[EUR][1000 genomes]
rs58638359	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61120449	0.91[EUR][1000 genomes]
rs6921496	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73788833	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73788845	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7743335	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9485155	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9485159	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9497729	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9497740	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9497747	0.91[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	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1820434	chr6:147518489-147543262	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147522800-147528600	Active TSS	Duodenum Mucosa	Duodenum
2	chr6:147522800-147529000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:147523000-147528600	Active TSS	Brain Cingulate Gyrus	brain
4	chr6:147523000-147528800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:147523000-147528800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:147523000-147528800	Active TSS	Brain Anterior Caudate	brain
7	chr6:147523000-147528800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr6:147523000-147529000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:147523000-147529200	Active TSS	NHLF	lung
10	chr6:147523000-147529600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr6:147523000-147529600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:147523000-147529800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr6:147523200-147528800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:147523400-147528600	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr6:147523400-147528600	Active TSS	NHDF-Ad	bronchial
16	chr6:147523400-147528800	Active TSS	Brain Angular Gyrus	brain
17	chr6:147523400-147529000	Active TSS	NHEK	skin
18	chr6:147523400-147529400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:147524400-147529000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:147524600-147529800	Active TSS	HMEC	breast
21	chr6:147525800-147529600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:147526000-147543400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:147526000-147543400	Weak transcription	Pancreas	Pancrea
24	chr6:147526000-147572200	Weak transcription	Lung	lung
25	chr6:147526200-147533800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:147526400-147530000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:147526400-147530200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:147526400-147539600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:147526400-147543200	Weak transcription	Stomach Mucosa	stomach
30	chr6:147526400-147543400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:147526400-147543400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:147526600-147529200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:147526600-147529800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:147526800-147529600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr6:147527000-147529200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr6:147527200-147528600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr6:147527200-147529800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr6:147527200-147531200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:147527200-147531200	Weak transcription	Fetal Lung	lung
40	chr6:147527200-147531600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:147527200-147534400	Weak transcription	Psoas Muscle	Psoas
42	chr6:147527200-147539600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr6:147527200-147539600	Weak transcription	Thymus	Thymus
44	chr6:147527200-147543400	Weak transcription	Fetal Thymus	thymus
45	chr6:147527200-147543600	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:147527200-147544400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr6:147527200-147547400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:147527200-147548400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr6:147527200-147549000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:147527200-147557800	Weak transcription	Fetal Stomach	stomach

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