Variant report

Variant	rs73928355
Chromosome Location	chr19:36389579-36389580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr19:36389396-36392037	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr19:36389439-36389730	GM12891	blood:	n/a	n/a
3	POLR2A	chr19:36389078-36391783	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:36389500-36391774	GM15510	blood:	n/a	n/a
5	POLR2A	chr19:36383824-36391793	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:36388326-36390442	HL-60	blood:	n/a	n/a
7	POLR2A	chr19:36386218-36391884	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:36389440-36391870	GM12892	blood:	n/a	n/a
9	EBF1	chr19:36389477-36389993	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:36389547-36391766	GM19193	blood:	n/a	n/a
11	POLR2A	chr19:36389416-36391776	GM18505	blood:	n/a	n/a
12	ZBTB7A	chr19:36389543-36390360	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr19:36389465-36390045	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:36389481-36390054	GM12878	blood:	n/a	n/a
15	MAZ	chr19:36389420-36391838	IMR90	lung:	n/a	chr19:36389974-36389984
16	POLR2A	chr19:36389565-36390140	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:36388474-36391831	GM12891	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36389575-36389625	HepG2	liver:	n/a
2	chr19:36389575-36389625	HMEC	breast:	n/a
3	chr19:36389575-36389625	CMK	blood:	n/a
4	chr19:36389575-36389625	GM12878	blood:	n/a
5	chr19:36389575-36389625	U87	brain:	n/a
6	chr19:36389575-36389625	MCF10A-Er-Src	breast:	n/a
7	chr19:36389575-36389625	PFSK-1	brain:	n/a
8	chr19:36389575-36389625	Hepatocyte	liver:	n/a
9	chr19:36389575-36389625	GM12892	blood:	n/a
10	chr19:36389575-36389625	NH-A	brain:	n/a
11	chr19:36389575-36389625	H1-hESC	embryonic stem cell:	embryo
12	chr19:36389575-36389625	HCPEpiC	choroid plexus:	n/a
13	chr19:36389575-36389625	Hela-S3	cervix:	n/a
14	chr19:36389575-36389625	HRCEpiC	kidney:	n/a
15	chr19:36389575-36389625	HUVEC	blood vessel:	n/a
16	chr19:36389575-36389625	SK-N-MC	brain:	n/a
17	chr19:36389575-36389625	LNCaP	prostate:	n/a
18	chr19:36389575-36389625	HL-60	blood:	n/a
19	chr19:36389575-36389625	GM06990	blood:	n/a
20	chr19:36389575-36389625	NHBE	bronchial:	n/a
21	chr19:36389575-36389625	GM12891	blood:	n/a
22	chr19:36389575-36389625	GM19239	blood:	n/a
23	chr19:36389575-36389625	AoSMC	blood vessel:	n/a
24	chr19:36389575-36389625	NT2-D1	testis:	n/a
25	chr19:36389575-36389625	Caco-2	colon:	n/a
26	chr19:36389575-36389625	NB4	blood:	n/a
27	chr19:36389575-36389625	AG09309	skin:	n/a
28	chr19:36389575-36389625	RPTEC	kidney:	n/a
29	chr19:36389575-36389625	PrEC	prostate:	n/a
30	chr19:36389575-36389625	BE2_C	brain:	n/a
31	chr19:36389575-36389625	BJ	skin:	n/a
32	chr19:36389575-36389625	SKMC	muscle:	n/a
33	chr19:36389575-36389625	HCF	heart:	n/a
34	chr19:36389575-36389625	AG09319	gingival:	n/a
35	chr19:36389575-36389625	AG10803	skin:	n/a
36	chr19:36389575-36389625	HRPEpiC	eye:	n/a
37	chr19:36389575-36389625	T-47D	breast:	n/a
38	chr19:36389575-36389625	HEEpiC	esophagus:	n/a
39	chr19:36389575-36389625	MCF-7	breast:	n/a
40	chr19:36389575-36389625	HCM	heart:	n/a
41	chr19:36389575-36389625	A549	lung:	n/a
42	chr19:36389575-36389625	PANC-1	pancreas:	n/a
43	chr19:36389575-36389625	HAEpiC	amniotic membrane:	n/a
44	chr19:36389575-36389625	HNPCEpiC	eye:	n/a
45	chr19:36389575-36389625	HPAEpiC	pulmonary alveolar:	n/a
46	chr19:36389575-36389625	AG04450	lung:	fetal
47	chr19:36389575-36389625	HCT-116	colon:	n/a
48	chr19:36389575-36389625	K562	blood:	n/a
49	chr19:36389575-36389625	IMR90	lung:	fetal
50	chr19:36389575-36389625	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:36388870..36390539-chr19:36431114..36433630,2	MCF-7	breast:
2	chr19:36334818..36337477-chr19:36389378..36392350,2	MCF-7	breast:
3	chr19:36377925..36382197-chr19:36388677..36391097,3	MCF-7	breast:
4	chr19:36388094..36390635-chr19:36498099..36499853,2	K562	blood:
5	chr19:36379784..36382461-chr19:36387954..36392218,4	MCF-7	breast:
6	chr19:36359272..36362126-chr19:36389056..36392231,3	MCF-7	breast:

No data

Variant related genes	Relation type
NFKBID	TF binding region
HCST	TF binding region
NFKBID	CpG island
HCST	CpG island
ENSG00000181392	Chromatin interaction
ENSG00000105290	Chromatin interaction
ENSG00000161270	Chromatin interaction
ENSG00000167604	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56132631	1.00[EUR][1000 genomes]
rs57740310	1.00[EUR][1000 genomes]
rs57785375	1.00[EUR][1000 genomes]
rs60697711	1.00[EUR][1000 genomes]
rs61288857	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7249567	1.00[EUR][1000 genomes]
rs7252053	1.00[EUR][1000 genomes]
rs7254298	1.00[EUR][1000 genomes]
rs7254905	1.00[EUR][1000 genomes]
rs7254994	1.00[EUR][1000 genomes]
rs7259892	1.00[EUR][1000 genomes]
rs73928350	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73928352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73928368	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 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	chr19:36373400-36389600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:36380800-36389600	Weak transcription	Fetal Kidney	kidney
3	chr19:36381200-36390000	Weak transcription	K562	blood
4	chr19:36382000-36389600	Weak transcription	Fetal Lung	lung
5	chr19:36382200-36389600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:36385200-36390000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
7	chr19:36386800-36390000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:36386800-36391600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:36387200-36390000	Transcr. at gene 5' and 3'	Thymus	Thymus
10	chr19:36388000-36389600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:36388400-36389600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
12	chr19:36388600-36389600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:36388600-36392000	Active TSS	Rectal Smooth Muscle	rectum
14	chr19:36388800-36389600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:36388800-36389600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:36388800-36389600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:36388800-36389600	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr19:36388800-36389600	Weak transcription	A549	lung
19	chr19:36388800-36389800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:36388800-36389800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
21	chr19:36388800-36389800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr19:36388800-36389800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr19:36388800-36389800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:36388800-36389800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:36388800-36389800	Weak transcription	HepG2	liver
26	chr19:36388800-36390000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:36388800-36391600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:36389000-36389600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr19:36389000-36389600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr19:36389000-36389600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr19:36389000-36389600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr19:36389000-36389800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr19:36389000-36389800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr19:36389000-36389800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr19:36389000-36389800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:36389000-36390000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:36389000-36390000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr19:36389000-36390200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:36389000-36390400	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr19:36389000-36391600	Active TSS	Gastric	stomach
41	chr19:36389000-36391800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:36389000-36391800	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr19:36389000-36391800	Active TSS	NHDF-Ad	bronchial
44	chr19:36389000-36392000	Active TSS	Brain Angular Gyrus	brain
45	chr19:36389000-36392000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:36389000-36392000	Active TSS	NHLF	lung
47	chr19:36389200-36389600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:36389200-36389600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr19:36389200-36389600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:36389200-36389600	Flanking Active TSS	Colon Smooth Muscle	Colon

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