Variant report

Variant	rs7258808
Chromosome Location	chr19:37664038-37664039
allele	A/G
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	EGR1	chr19:37663466-37664060	MCF-7	breast:	n/a	chr19:37663604-37663613 chr19:37663653-37663662
2	MAFK	chr19:37663261-37664070	K562	blood:	n/a	n/a
3	EGR1	chr19:37663502-37664046	HCT-116	colon:	n/a	chr19:37663604-37663613 chr19:37663653-37663662
4	ETS1	chr19:37663283-37664056	A549	lung:	n/a	chr19:37663604-37663613 chr19:37663604-37663613 chr19:37663601-37663617 chr19:37663602-37663613 chr19:37663604-37663613 chr19:37663604-37663613 chr19:37663604-37663613 chr19:37663602-37663612 chr19:37663604-37663613 chr19:37663603-37663616 chr19:37663604-37663613
5	YY1	chr19:37663230-37664188	GM12892	blood:	n/a	chr19:37663788-37663798 chr19:37663786-37663803 chr19:37663740-37663762 chr19:37663788-37663798 chr19:37663791-37663799 chr19:37663788-37663810 chr19:37663787-37663803 chr19:37663752-37663762
6	CREB1	chr19:37663232-37664045	GM12878	blood:	n/a	n/a
7	TCF12	chr19:37663166-37664101	A549	lung:	n/a	n/a
8	YY1	chr19:37663223-37664151	H1-hESC	embryonic stem cell:	n/a	chr19:37663788-37663798 chr19:37663786-37663803 chr19:37663740-37663762 chr19:37663788-37663798 chr19:37663791-37663799 chr19:37663788-37663810 chr19:37663787-37663803 chr19:37663752-37663762
9	YY1	chr19:37663353-37664096	HepG2	liver:	n/a	chr19:37663788-37663798 chr19:37663786-37663803 chr19:37663740-37663762 chr19:37663788-37663798 chr19:37663791-37663799 chr19:37663788-37663810 chr19:37663787-37663803 chr19:37663752-37663762
10	HCFC1	chr19:37662980-37664255	Hela-S3	cervix:	n/a	n/a
11	YY1	chr19:37663102-37664303	A549	lung:	n/a	chr19:37663788-37663798 chr19:37663786-37663803 chr19:37663740-37663762 chr19:37663788-37663798 chr19:37663791-37663799 chr19:37663788-37663810 chr19:37663787-37663803 chr19:37663752-37663762
12	SPI1	chr19:37663421-37664049	HL-60	blood:	n/a	n/a
13	JUND	chr19:37663243-37664384	H1-hESC	embryonic stem cell:	n/a	n/a
14	TCF7L2	chr19:37663369-37664172	HEK293	kidney:	n/a	n/a
15	GTF2F1	chr19:37663359-37664121	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAZ	chr19:37663267-37664101	GM12878	blood:	n/a	chr19:37663781-37663790
17	YY1	chr19:37663237-37664215	GM12878	blood:	n/a	chr19:37663788-37663798 chr19:37663786-37663803 chr19:37663740-37663762 chr19:37663788-37663798 chr19:37663791-37663799 chr19:37663788-37663810 chr19:37663787-37663803 chr19:37663752-37663762
18	SMC3	chr19:37663387-37664123	HepG2	liver:	n/a	n/a
19	YY1	chr19:37663295-37664112	SK-N-SH_RA	brain:	n/a	chr19:37663788-37663798 chr19:37663786-37663803 chr19:37663740-37663762 chr19:37663788-37663798 chr19:37663791-37663799 chr19:37663788-37663810 chr19:37663787-37663803 chr19:37663752-37663762
20	GATA3	chr19:37663151-37664051	A549	lung:	n/a	chr19:37663424-37663433
21	SMC3	chr19:37663404-37664135	Hela-S3	cervix:	n/a	n/a
22	TBL1XR1	chr19:37663361-37664097	GM12878	blood:	n/a	n/a
23	YY1	chr19:37663385-37664054	ECC-1	luminal epithelium:	n/a	chr19:37663788-37663798 chr19:37663786-37663803 chr19:37663740-37663762 chr19:37663788-37663798 chr19:37663791-37663799 chr19:37663788-37663810 chr19:37663787-37663803 chr19:37663752-37663762
24	YY1	chr19:37663248-37664198	SK-N-SH	brain:	n/a	chr19:37663788-37663798 chr19:37663786-37663803 chr19:37663740-37663762 chr19:37663788-37663798 chr19:37663791-37663799 chr19:37663788-37663810 chr19:37663787-37663803 chr19:37663752-37663762
25	SIX5	chr19:37663339-37664045	A549	lung:	n/a	n/a
26	RAD21	chr19:37663521-37664046	HepG2	liver:	n/a	n/a
27	TAF1	chr19:37663179-37664073	H1-hESC	embryonic stem cell:	n/a	n/a
28	GABPA	chr19:37663212-37664043	SK-N-SH	brain:	n/a	n/a
29	REST	chr19:37663202-37664309	H1-neurons	neurons:	n/a	chr19:37663735-37663744
30	WRNIP1	chr19:37663234-37664231	GM12878	blood:	n/a	n/a
31	ETS1	chr19:37663178-37664203	A549	lung:	n/a	chr19:37663604-37663613 chr19:37663604-37663613 chr19:37663601-37663617 chr19:37663602-37663613 chr19:37663604-37663613 chr19:37663604-37663613 chr19:37663604-37663613 chr19:37663602-37663612 chr19:37663604-37663613 chr19:37663603-37663616 chr19:37663604-37663613
32	YY1	chr19:37663278-37664213	SK-N-SH_RA	brain:	n/a	chr19:37663788-37663798 chr19:37663786-37663803 chr19:37663740-37663762 chr19:37663788-37663798 chr19:37663791-37663799 chr19:37663788-37663810 chr19:37663787-37663803 chr19:37663752-37663762
33	CREB1	chr19:37663315-37664039	HepG2	liver:	n/a	n/a
34	KAP1	chr19:37663283-37664175	U2OS	brain:	n/a	n/a
35	GABPA	chr19:37663166-37664152	SK-N-SH	brain:	n/a	n/a
36	ELF1	chr19:37663201-37664119	MCF-7	breast:	n/a	chr19:37663603-37663616
37	EGR1	chr19:37663440-37664050	ECC-1	luminal epithelium:	n/a	chr19:37663604-37663613 chr19:37663653-37663662
38	YY1	chr19:37663533-37664208	GM12878	blood:	n/a	chr19:37663788-37663798 chr19:37663786-37663803 chr19:37663740-37663762 chr19:37663788-37663798 chr19:37663791-37663799 chr19:37663788-37663810 chr19:37663787-37663803 chr19:37663752-37663762
39	YY1	chr19:37663491-37664315	GM12892	blood:	n/a	chr19:37663788-37663798 chr19:37663786-37663803 chr19:37663740-37663762 chr19:37663788-37663798 chr19:37663791-37663799 chr19:37663788-37663810 chr19:37663787-37663803 chr19:37663752-37663762
40	MYC	chr19:37663236-37664090	K562	blood:	n/a	chr19:37663781-37663790
41	MAX	chr19:37663141-37664117	A549	lung:	n/a	chr19:37663781-37663790
42	HCFC1	chr19:37663357-37664059	K562	blood:	n/a	n/a
43	TBP	chr19:37663533-37664059	HepG2	liver:	n/a	n/a
44	NRF1	chr19:37662971-37664184	SK-N-SH	brain:	n/a	n/a
45	YY1	chr19:37663193-37664302	SK-N-SH	brain:	n/a	chr19:37663788-37663798 chr19:37663786-37663803 chr19:37663740-37663762 chr19:37663788-37663798 chr19:37663791-37663799 chr19:37663788-37663810 chr19:37663787-37663803 chr19:37663752-37663762
46	YY1	chr19:37663407-37664070	ECC-1	luminal epithelium:	n/a	chr19:37663788-37663798 chr19:37663786-37663803 chr19:37663740-37663762 chr19:37663788-37663798 chr19:37663791-37663799 chr19:37663788-37663810 chr19:37663787-37663803 chr19:37663752-37663762
47	KAP1	chr19:37663292-37664078	HEK293	kidney:	n/a	n/a
48	YY1	chr19:37663484-37664238	HepG2	liver:	n/a	chr19:37663788-37663798 chr19:37663786-37663803 chr19:37663740-37663762 chr19:37663788-37663798 chr19:37663791-37663799 chr19:37663788-37663810 chr19:37663787-37663803 chr19:37663752-37663762
49	SIX5	chr19:37663068-37664170	A549	lung:	n/a	n/a
50	YY1	chr19:37663311-37664265	A549	lung:	n/a	chr19:37663788-37663798 chr19:37663786-37663803 chr19:37663740-37663762 chr19:37663788-37663798 chr19:37663791-37663799 chr19:37663788-37663810 chr19:37663787-37663803 chr19:37663752-37663762

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37662285..37665074-chr19:37707652..37711059,3	K562	blood:
2	chr19:37662710..37665074-chr19:37707652..37710063,2	K562	blood:

Variant related genes	Relation type
ZNF585A	TF binding region
ENSG00000188283	Chromatin interaction
ENSG00000245680	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1234254	0.81[EUR][1000 genomes]
rs58192768	1.00[EUR][1000 genomes]
rs58960386	1.00[EUR][1000 genomes]
rs59947091	1.00[EUR][1000 genomes]
rs60479919	1.00[EUR][1000 genomes]
rs61607111	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7252518	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs8113719	1.00[EUR][1000 genomes]
rs9676461	1.00[EUR][1000 genomes]
rs9676697	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers 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	61 gene(s)	inside rSNPs	diseases
4	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers 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	73 gene(s)	inside rSNPs	diseases
5	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	esv3433517	chr19:37643755-37675928	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37662400-37664200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:37662600-37664200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr19:37662600-37664200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:37662600-37664200	Active TSS	Duodenum Mucosa	Duodenum
5	chr19:37662600-37664200	Active TSS	Right Atrium	heart
6	chr19:37662600-37664400	Active TSS	Colonic Mucosa	Colon
7	chr19:37662800-37664200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr19:37662800-37664200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:37662800-37664200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr19:37662800-37664200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr19:37662800-37664200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr19:37662800-37664200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr19:37662800-37664200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:37662800-37664200	Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr19:37662800-37664200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:37662800-37664200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:37662800-37664200	Active TSS	Muscle Satellite Cultured Cells	--
18	chr19:37662800-37664200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:37662800-37664200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr19:37662800-37664200	Active TSS	Fetal Lung	lung
21	chr19:37662800-37664200	Active TSS	K562	blood
22	chr19:37662800-37664200	Active TSS	NHDF-Ad	bronchial
23	chr19:37662800-37665000	ZNF genes & repeats	A549	lung
24	chr19:37663000-37664200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:37663000-37664200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr19:37663000-37664200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:37663000-37664200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:37663000-37664200	Active TSS	Brain Angular Gyrus	brain
29	chr19:37663000-37664200	Active TSS	Brain Anterior Caudate	brain
30	chr19:37663000-37664200	Active TSS	Brain Germinal Matrix	brain
31	chr19:37663000-37664200	Active TSS	Brain Hippocampus Middle	brain
32	chr19:37663000-37664200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr19:37663000-37664200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:37663000-37664200	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr19:37663000-37664200	Active TSS	Stomach Smooth Muscle	stomach
36	chr19:37663000-37664200	Active TSS	HSMMtube	muscle
37	chr19:37663000-37664200	Active TSS	NHEK	skin
38	chr19:37663000-37664200	Active TSS	Osteobl	bone
39	chr19:37663200-37664200	Active TSS	Primary B cells from cord blood	blood
40	chr19:37663200-37664200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr19:37663200-37664200	Active TSS	Aorta	Aorta
42	chr19:37663200-37664200	Active TSS	Fetal Heart	heart
43	chr19:37663200-37664200	Active TSS	Rectal Smooth Muscle	rectum
44	chr19:37663200-37664200	ZNF genes & repeats	HSMM	muscle
45	chr19:37663200-37664800	Active TSS	Colon Smooth Muscle	Colon
46	chr19:37663400-37664200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:37663400-37664400	Active TSS	Adipose Nuclei	Adipose
48	chr19:37663600-37673200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr19:37663800-37664200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:37663800-37664200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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