Variant report

Variant	rs2070251
Chromosome Location	chr19:39423001-39423002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:39422955-39423634	A549	lung:	n/a	n/a
2	POLR2A	chr19:39422960-39423626	GM12878	blood:	n/a	n/a
3	BCL3	chr19:39422868-39423918	A549	lung:	n/a	n/a
4	POLR2A	chr19:39418846-39427915	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr19:39422969-39423512	A549	lung:	n/a	n/a
6	POLR2A	chr19:39422899-39423786	K562	blood:	n/a	n/a
7	FOXA2	chr19:39422970-39423847	A549	lung:	n/a	n/a
8	POLR2A	chr19:39422843-39424605	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr19:39419835-39427960	PANC-1	pancreas:	n/a	n/a
10	BCL3	chr19:39420591-39423942	A549	lung:	n/a	chr19:39421086-39421099 chr19:39421078-39421091

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:39422960-39423010	Hela-S3	cervix:	n/a
2	chr19:39422960-39423010	PANC-1	pancreas:	n/a
3	chr19:39422960-39423010	HepG2	liver:	n/a
4	chr19:39422960-39423010	ProgFib	skin:	n/a
5	chr19:39422960-39423010	GM19239	blood:	n/a
6	chr19:39422960-39423010	RPTEC	kidney:	n/a
7	chr19:39422960-39423010	HEEpiC	esophagus:	n/a
8	chr19:39422960-39423010	PFSK-1	brain:	n/a
9	chr19:39422960-39423010	AG04449	skin:	fetal
10	chr19:39422960-39423010	NH-A	brain:	n/a
11	chr19:39422960-39423010	BJ	skin:	n/a
12	chr19:39422960-39423010	HCM	heart:	n/a
13	chr19:39422960-39423010	AG04450	lung:	fetal
14	chr19:39422960-39423010	HPAEpiC	pulmonary alveolar:	n/a
15	chr19:39422960-39423010	HUVEC	blood vessel:	n/a
16	chr19:39422960-39423010	HRE	kidney:	n/a
17	chr19:39422960-39423010	PrEC	prostate:	n/a
18	chr19:39422960-39423010	NB4	blood:	n/a
19	chr19:39422960-39423010	HEK293	kidney:	embryo
20	chr19:39422960-39423010	A549	lung:	n/a
21	chr19:39422960-39423010	K562	blood:	n/a
22	chr19:39422960-39423010	GM12878	blood:	n/a
23	chr19:39422960-39423010	MCF-7	breast:	n/a
24	chr19:39422960-39423010	HCPEpiC	choroid plexus:	n/a
25	chr19:39422960-39423010	CMK	blood:	n/a
26	chr19:39422960-39423010	Caco-2	colon:	n/a
27	chr19:39422960-39423010	HRPEpiC	eye:	n/a
28	chr19:39422960-39423010	HRCEpiC	kidney:	n/a
29	chr19:39422960-39423010	U87	brain:	n/a
30	chr19:39422960-39423010	NT2-D1	testis:	n/a
31	chr19:39422960-39423010	HL-60	blood:	n/a
32	chr19:39422960-39423010	SK-N-MC	brain:	n/a
33	chr19:39422960-39423010	NHBE	bronchial:	n/a
34	chr19:39422960-39423010	GM06990	blood:	n/a
35	chr19:39422960-39423010	AG09319	gingival:	n/a
36	chr19:39422960-39423010	GM12891	blood:	n/a
37	chr19:39422960-39423010	SKMC	muscle:	n/a
38	chr19:39422960-39423010	AG10803	skin:	n/a
39	chr19:39422960-39423010	AG09309	skin:	n/a
40	chr19:39422960-39423010	HAEpiC	amniotic membrane:	n/a
41	chr19:39422960-39423010	SK-N-SH_RA	brain:	n/a
42	chr19:39422960-39423010	AoSMC	blood vessel:	n/a
43	chr19:39422960-39423010	ECC-1	luminal epithelium:	n/a
44	chr19:39422960-39423010	BE2_C	brain:	n/a
45	chr19:39422960-39423010	SAEC	small airway:	n/a
46	chr19:39422960-39423010	T-47D	breast:	n/a
47	chr19:39422960-39423010	HMEC	breast:	n/a
48	chr19:39422960-39423010	SK-N-SH	brain:	n/a
49	chr19:39422960-39423010	NHDF-neo	bronchial:	n/a
50	chr19:39422960-39423010	LNCaP	prostate:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39420462..39423214-chr19:39898290..39900735,2	K562	blood:
2	chr19:39336974..39342883-chr19:39419267..39423173,13	K562	blood:
3	chr19:39421083..39425618-chr19:39435632..39441753,7	MCF-7	breast:
4	chr19:39386472..39392494-chr19:39418718..39424791,9	K562	blood:
5	chr19:39389410..39392783-chr19:39420988..39423307,4	MCF-7	breast:
6	chr19:39338909..39344654-chr19:39419169..39426961,19	MCF-7	breast:
7	chr19:39326460..39328374-chr19:39422755..39424335,2	MCF-7	breast:
8	chr19:39228667..39230478-chr19:39420914..39423370,2	MCF-7	breast:
9	chr19:39422663..39425389-chr19:39427254..39430222,2	MCF-7	breast:

No data

Variant related genes	Relation type
SARS2	TF binding region
SARS2	CpG island
ENSG00000266559	Chromatin interaction
ENSG00000068903	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000104825	Chromatin interaction
ENSG00000267892	Chromatin interaction
ENSG00000269547	Chromatin interaction
ENSG00000269486	Chromatin interaction
ENSG00000269190	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10411209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10411301	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10423309	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13343573	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16972885	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2070250	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082436	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2116853	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2163811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304115	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304116	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28362605	1.00[ASN][1000 genomes]
rs28808414	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28824318	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28844707	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28860185	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3181068	1.00[ASN][1000 genomes]
rs34264048	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58399999	1.00[ASN][1000 genomes]
rs61194027	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61232096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508826	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6508827	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73537679	1.00[ASN][1000 genomes]
rs73930228	0.84[AMR][1000 genomes]
rs73930229	0.84[AMR][1000 genomes]
rs8113749	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39422200-39423200	Weak transcription	Aorta	Aorta
2	chr19:39422400-39423200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:39422400-39423200	Weak transcription	Primary T cells from cord blood	blood
4	chr19:39422400-39423200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr19:39422400-39423200	Weak transcription	Brain Germinal Matrix	brain
6	chr19:39422400-39423200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:39422400-39423200	Weak transcription	Fetal Brain Male	brain
8	chr19:39422400-39423200	Enhancers	Fetal Heart	heart
9	chr19:39422400-39423600	Genic enhancers	Fetal Muscle Leg	muscle
10	chr19:39422400-39423800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr19:39422400-39424200	Weak transcription	Small Intestine	intestine
12	chr19:39422400-39424400	Strong transcription	Fetal Intestine Small	intestine
13	chr19:39422400-39426600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr19:39422400-39434600	Weak transcription	Fetal Kidney	kidney
15	chr19:39422400-39435000	Weak transcription	Fetal Lung	lung
16	chr19:39422400-39435000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:39422400-39440600	Weak transcription	NHDF-Ad	bronchial
18	chr19:39422600-39423200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:39422600-39423200	Weak transcription	Liver	Liver
20	chr19:39422600-39423200	Weak transcription	Brain Anterior Caudate	brain
21	chr19:39422600-39423200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr19:39422600-39423200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr19:39422600-39423200	Enhancers	HepG2	liver
24	chr19:39422600-39423200	Enhancers	HMEC	breast
25	chr19:39422600-39423200	Genic enhancers	NHLF	lung
26	chr19:39422600-39423400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:39422600-39423400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:39422600-39423600	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr19:39422600-39423600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr19:39422600-39423600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr19:39422600-39423600	Genic enhancers	Brain Inferior Temporal Lobe	brain
32	chr19:39422600-39423600	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr19:39422600-39424400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr19:39422600-39425200	Weak transcription	Primary B cells from cord blood	blood
35	chr19:39422600-39425200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr19:39422600-39425200	Weak transcription	Stomach Mucosa	stomach
37	chr19:39422600-39427000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr19:39422600-39430200	Weak transcription	HUVEC	blood vessel
39	chr19:39422600-39430800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr19:39422600-39435200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:39422600-39435200	Weak transcription	HSMM	muscle
42	chr19:39422600-39440200	Weak transcription	NH-A	brain
43	chr19:39422600-39440600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr19:39422600-39453000	Weak transcription	HSMMtube	muscle
45	chr19:39422800-39423200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:39422800-39423200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:39422800-39423200	Genic enhancers	Adipose Nuclei	Adipose
48	chr19:39422800-39423400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:39422800-39423400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr19:39422800-39423400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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