Variant report

Variant	rs73930207
Chromosome Location	chr19:39322456-39322457
allele	C/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	SMC3	chr19:39321812-39322800	GM12878	blood:	n/a	n/a
2	MXI1	chr19:39322187-39322634	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF1	chr19:39321869-39322839	ECC-1	luminal epithelium:	n/a	n/a
4	ZNF217	chr19:39321760-39322839	MCF-7	breast:	n/a	n/a
5	YY1	chr19:39321751-39322975	SK-N-SH	brain:	n/a	chr19:39322483-39322505 chr19:39322461-39322475 chr19:39322413-39322422 chr19:39322482-39322494 chr19:39322542-39322564 chr19:39322486-39322494 chr19:39322543-39322551 chr19:39322540-39322559 chr19:39322819-39322829 chr19:39322542-39322552 chr19:39322545-39322553 chr19:39322483-39322493
6	RCOR1	chr19:39322303-39322716	Hela-S3	cervix:	n/a	n/a
7	FOSL1	chr19:39322170-39322625	K562	blood:	n/a	chr19:39322350-39322361 chr19:39322351-39322360
8	MAX	chr19:39321765-39322757	HepG2	liver:	n/a	chr19:39322464-39322474
9	MBD4	chr19:39321764-39322901	HepG2	liver:	n/a	n/a
10	ZBTB7A	chr19:39322173-39322690	K562	blood:	n/a	n/a
11	POLR2A	chr19:39322156-39322834	GM18526	blood:	n/a	n/a
12	MXI1	chr19:39321816-39322744	GM12878	blood:	n/a	n/a
13	SIN3AK20	chr19:39321587-39323048	A549	lung:	n/a	n/a
14	TAF1	chr19:39322159-39322725	HepG2	liver:	n/a	n/a
15	POLR2A	chr19:39322233-39322641	A549	lung:	n/a	n/a
16	TAF1	chr19:39322203-39322651	PFSK-1	brain:	n/a	n/a
17	GABPA	chr19:39321817-39323087	A549	lung:	n/a	n/a
18	MAX	chr19:39321675-39322905	ECC-1	luminal epithelium:	n/a	chr19:39322464-39322474
19	POLR2A	chr19:39321916-39322916	GM12892	blood:	n/a	n/a
20	TAF1	chr19:39322246-39322661	GM12892	blood:	n/a	n/a
21	POLR2A	chr19:39321611-39322751	HepG2	liver:	n/a	n/a
22	POLR2A	chr19:39321802-39322738	GM12878	blood:	n/a	n/a
23	ELK4	chr19:39322105-39322968	HEK293	kidney:	n/a	chr19:39322567-39322576 chr19:39322568-39322576 chr19:39322565-39322576
24	EP300	chr19:39322293-39322877	HepG2	liver:	n/a	chr19:39322776-39322786
25	USF1	chr19:39322320-39322623	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr19:39321561-39322816	GM12891	blood:	n/a	n/a
27	YY1	chr19:39321811-39322989	ECC-1	luminal epithelium:	n/a	chr19:39322483-39322505 chr19:39322461-39322475 chr19:39322413-39322422 chr19:39322482-39322494 chr19:39322542-39322564 chr19:39322486-39322494 chr19:39322543-39322551 chr19:39322540-39322559 chr19:39322819-39322829 chr19:39322542-39322552 chr19:39322545-39322553 chr19:39322483-39322493
28	POLR2A	chr19:39322201-39322807	H1-hESC	embryonic stem cell:	n/a	n/a
29	BCLAF1	chr19:39321931-39322895	GM12878	blood:	n/a	chr19:39322784-39322792
30	SRF	chr19:39322310-39322719	GM12878	blood:	n/a	chr19:39322464-39322474
31	ARID3A	chr19:39322019-39322821	K562	blood:	n/a	n/a
32	EBF1	chr19:39322376-39322645	GM12878	blood:	n/a	n/a
33	POLR2A	chr19:39321909-39322838	K562	blood:	n/a	n/a
34	SRF	chr19:39322355-39322713	HepG2	liver:	n/a	chr19:39322464-39322474
35	EP300	chr19:39321944-39322877	HepG2	liver:	n/a	chr19:39322776-39322786
36	EGR1	chr19:39322176-39322635	K562	blood:	n/a	chr19:39322463-39322473 chr19:39322460-39322475 chr19:39322461-39322474
37	TEAD4	chr19:39322230-39322802	K562	blood:	n/a	n/a
38	USF1	chr19:39322262-39322739	A549	lung:	n/a	n/a
39	KAP1	chr19:39322079-39323033	U2OS	brain:	n/a	n/a
40	NFIC	chr19:39322342-39322858	HepG2	liver:	n/a	n/a
41	POLR2A	chr19:39321934-39322892	K562	blood:	n/a	n/a
42	SIX5	chr19:39322282-39322683	GM12878	blood:	n/a	n/a
43	MAFK	chr19:39321815-39322719	IMR90	lung:	n/a	n/a
44	RFX5	chr19:39321893-39322820	GM12878	blood:	n/a	chr19:39322709-39322724
45	USF1	chr19:39322215-39322738	H1-hESC	embryonic stem cell:	n/a	n/a
46	MXI1	chr19:39322331-39322697	K562	blood:	n/a	n/a
47	POLR2A	chr19:39322195-39322866	HepG2	liver:	n/a	n/a
48	BHLHE40	chr19:39321707-39323235	HepG2	liver:	n/a	n/a
49	POLR2A	chr19:39321374-39323387	HepG2	liver:	n/a	n/a
50	SIX5	chr19:39322322-39322721	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39221972..39229243-chr19:39319630..39326763,11	K562	blood:
2	chr19:39225035..39229236-chr19:39320225..39324035,5	K562	blood:
3	chr19:39305126..39308258-chr19:39321941..39324366,4	K562	blood:
4	chr19:39322241..39322812-chr19:39342605..39343121,2	MCF-7	breast:
5	chr19:39138022..39142840-chr19:39322070..39325450,5	MCF-7	breast:
6	chr19:39224613..39228237-chr19:39319464..39324480,6	MCF-7	breast:
7	chr19:39137520..39139996-chr19:39320132..39324117,5	MCF-7	breast:
8	chr19:39320984..39323718-chr19:39390338..39392657,3	K562	blood:
9	chr19:39322011..39322549-chr7:45150885..45151612,2	Hela-S3	cervix:
10	chr19:10362582..10363540-chr19:39322006..39323005,2	NB4	blood:
11	chr19:39321462..39323411-chr19:39359373..39361824,2	MCF-7	breast:
12	chr19:39322407..39324148-chr19:39419876..39421918,2	K562	blood:
13	chr15:100106039..100106558-chr19:39322403..39322903,2	NB4	blood:

Variant related genes	Relation type
ECH1	TF binding region
ENSG00000104824	Chromatin interaction
ENSG00000136270	Chromatin interaction
ENSG00000182472	Chromatin interaction
ENSG00000104825	Chromatin interaction
ENSG00000104835	Chromatin interaction
ENSG00000269050	Chromatin interaction
ENSG00000068305	Chromatin interaction
ENSG00000128626	Chromatin interaction
ENSG00000104823	Chromatin interaction
ENSG00000068903	Chromatin interaction
ENSG00000105364	Chromatin interaction
ENSG00000267892	Chromatin interaction
ENSG00000187994	Chromatin interaction
ENSG00000130402	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57195546	0.84[AFR][1000 genomes]
rs59089213	1.00[AFR][1000 genomes]
rs60637521	0.89[AFR][1000 genomes]
rs73930204	0.89[AFR][1000 genomes]
rs73930206	0.84[AFR][1000 genomes]
rs73930213	0.84[AFR][1000 genomes]
rs73933063	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 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	chr19:39321400-39322800	Active TSS	Brain Anterior Caudate	brain
2	chr19:39321400-39323000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr19:39321400-39323000	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr19:39321400-39323000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr19:39321600-39322600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr19:39321600-39322600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr19:39321600-39322600	Active TSS	Gastric	stomach
8	chr19:39321600-39322800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr19:39321600-39322800	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr19:39321600-39322800	Active TSS	Fetal Kidney	kidney
11	chr19:39321600-39322800	Flanking Active TSS	HMEC	breast
12	chr19:39321600-39323000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr19:39321600-39323000	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr19:39321600-39323000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:39321600-39323000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr19:39321600-39323000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr19:39321600-39323000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:39321600-39323000	Active TSS	Aorta	Aorta
19	chr19:39321600-39323000	Active TSS	Lung	lung
20	chr19:39321600-39323000	Active TSS	Ovary	ovary
21	chr19:39321600-39323000	Active TSS	Right Ventricle	heart
22	chr19:39321600-39323000	Flanking Active TSS	NHEK	skin
23	chr19:39321600-39323200	Flanking Active TSS	Osteobl	bone
24	chr19:39321800-39322600	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr19:39321800-39322600	Active TSS	Esophagus	oesophagus
26	chr19:39321800-39322600	Active TSS	Placenta Amnion	Placenta Amnion
27	chr19:39321800-39322600	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr19:39321800-39322600	Active TSS	Small Intestine	intestine
29	chr19:39321800-39322800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:39321800-39322800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr19:39321800-39322800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:39321800-39322800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:39321800-39322800	Active TSS	Brain Substantia Nigra	brain
34	chr19:39321800-39322800	Active TSS	Colon Smooth Muscle	Colon
35	chr19:39321800-39322800	Active TSS	Stomach Mucosa	stomach
36	chr19:39321800-39322800	Active TSS	A549	lung
37	chr19:39321800-39322800	Active TSS	HSMMtube	muscle
38	chr19:39321800-39323000	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr19:39321800-39323000	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr19:39321800-39323000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr19:39321800-39323000	Active TSS	Left Ventricle	heart
42	chr19:39321800-39323000	Active TSS	Right Atrium	heart
43	chr19:39322000-39322600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:39322000-39322600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:39322000-39322600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:39322000-39322600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:39322000-39322600	Active TSS	Pancreas	Pancrea
48	chr19:39322000-39322600	Active TSS	Spleen	Spleen
49	chr19:39322000-39322800	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr19:39322000-39322800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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