Variant report

Variant	rs74092053
Chromosome Location	chr1:79111333-79111334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:79107167-79118433	GM12891	blood:	n/a	n/a
2	POLR2A	chr1:79108863-79114544	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:79111258-79113668	GM18951	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:79111320-79111370	PFSK-1	brain:	n/a
2	chr1:79111320-79111370	SKMC	muscle:	n/a
3	chr1:79111320-79111370	BJ	skin:	n/a
4	chr1:79111320-79111370	AG09309	skin:	n/a
5	chr1:79111320-79111370	AoSMC	blood vessel:	n/a
6	chr1:79111320-79111370	NHDF-neo	bronchial:	n/a
7	chr1:79111320-79111370	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:79111320-79111370	GM12891	blood:	n/a
9	chr1:79111320-79111370	GM12892	blood:	n/a
10	chr1:79111320-79111370	ovcar-3	ovarian:	n/a
11	chr1:79111320-79111370	Hepatocyte	liver:	n/a
12	chr1:79111320-79111370	HCT-116	colon:	n/a
13	chr1:79111320-79111370	AG10803	skin:	n/a
14	chr1:79111320-79111370	SAEC	small airway:	n/a
15	chr1:79111320-79111370	HCM	heart:	n/a
16	chr1:79111320-79111370	HEK293	kidney:	embryo
17	chr1:79111320-79111370	NT2-D1	testis:	n/a
18	chr1:79111320-79111370	IMR90	lung:	fetal
19	chr1:79111320-79111370	H1-hESC	embryonic stem cell:	embryo
20	chr1:79111320-79111370	AG04449	skin:	fetal
21	chr1:79111320-79111370	HAEpiC	amniotic membrane:	n/a
22	chr1:79111320-79111370	Jurkat	blood:	n/a
23	chr1:79111320-79111370	AG09319	gingival:	n/a
24	chr1:79111320-79111370	Caco-2	colon:	n/a
25	chr1:79111320-79111370	HRE	kidney:	n/a
26	chr1:79111320-79111370	NHBE	bronchial:	n/a
27	chr1:79111320-79111370	SK-N-SH	brain:	n/a
28	chr1:79111320-79111370	HEEpiC	esophagus:	n/a
29	chr1:79111320-79111370	HCPEpiC	choroid plexus:	n/a
30	chr1:79111320-79111370	GM12878	blood:	n/a
31	chr1:79111320-79111370	HIPEpiC	eye:	n/a
32	chr1:79111320-79111370	HMEC	breast:	n/a
33	chr1:79111320-79111370	MCF10A-Er-Src	breast:	n/a
34	chr1:79111320-79111370	SK-N-SH_RA	brain:	n/a
35	chr1:79111320-79111370	PrEC	prostate:	n/a
36	chr1:79111320-79111370	U87	brain:	n/a
37	chr1:79111320-79111370	RPTEC	kidney:	n/a
38	chr1:79111320-79111370	HCF	heart:	n/a
39	chr1:79111320-79111370	HepG2	liver:	n/a
40	chr1:79111320-79111370	HL-60	blood:	n/a
41	chr1:79111320-79111370	HRPEpiC	eye:	n/a
42	chr1:79111320-79111370	GM19239	blood:	n/a
43	chr1:79111320-79111370	CMK	blood:	n/a
44	chr1:79111320-79111370	K562	blood:	n/a
45	chr1:79111320-79111370	T-47D	breast:	n/a
46	chr1:79111320-79111370	NB4	blood:	n/a
47	chr1:79111320-79111370	NH-A	brain:	n/a
48	chr1:79111320-79111370	AG04450	lung:	fetal
49	chr1:79111320-79111370	LNCaP	prostate:	n/a
50	chr1:79111320-79111370	HNPCEpiC	eye:	n/a

No data

Variant related genes	Relation type
IFI44	TF binding region
IFI44	CpG island

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17102120	1.00[AMR][1000 genomes]
rs55641087	1.00[AMR][1000 genomes]
rs55927436	1.00[AMR][1000 genomes]
rs56122816	1.00[AMR][1000 genomes]
rs56199072	1.00[AMR][1000 genomes]
rs56294778	1.00[AMR][1000 genomes]
rs57435109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57501000	1.00[AMR][1000 genomes]
rs58128375	1.00[AMR][1000 genomes]
rs58160764	1.00[AMR][1000 genomes]
rs59367539	1.00[AMR][1000 genomes]
rs72941639	1.00[AMR][1000 genomes]
rs74091960	1.00[AMR][1000 genomes]
rs74091967	1.00[AMR][1000 genomes]
rs74092055	1.00[AMR][1000 genomes]
rs74092056	1.00[AMR][1000 genomes]
rs74092060	1.00[AMR][1000 genomes]
rs74092069	1.00[AMR][1000 genomes]
rs74092086	1.00[AMR][1000 genomes]
rs74094707	1.00[AMR][1000 genomes]
rs74094729	1.00[AMR][1000 genomes]
rs74094736	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv830315	chr1:79008443-79200591	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv871140	chr1:79095581-79155134	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79089800-79115000	Weak transcription	Small Intestine	intestine
2	chr1:79094600-79115200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:79099200-79112800	Weak transcription	Lung	lung
4	chr1:79101400-79115400	Weak transcription	Left Ventricle	heart
5	chr1:79102200-79114800	Weak transcription	Adipose Nuclei	Adipose
6	chr1:79103000-79111600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:79103000-79112800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:79103400-79113000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:79105000-79115400	Weak transcription	Psoas Muscle	Psoas
10	chr1:79105600-79115400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:79107200-79111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:79107400-79112800	Weak transcription	Right Atrium	heart
13	chr1:79107600-79115600	Weak transcription	Aorta	Aorta
14	chr1:79107800-79115400	Weak transcription	Ovary	ovary
15	chr1:79108200-79115000	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:79108400-79112800	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:79108600-79113400	ZNF genes & repeats	GM12878-XiMat	blood
18	chr1:79109200-79113200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:79109800-79111400	Enhancers	Primary T cells from cord blood	blood
20	chr1:79110000-79111400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:79110000-79112400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr1:79110000-79113400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:79110200-79112400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr1:79110200-79112800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:79110400-79111800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:79110400-79112600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr1:79110400-79113000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr1:79110600-79111800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:79110600-79111800	Enhancers	Fetal Thymus	thymus
30	chr1:79110600-79112600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr1:79110600-79112600	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr1:79110600-79112600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr1:79110600-79113000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:79111000-79112400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:79111000-79112600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr1:79111000-79115000	Weak transcription	Osteobl	bone
37	chr1:79111200-79111400	Enhancers	Duodenum Mucosa	Duodenum
38	chr1:79111200-79111400	Flanking Active TSS	Dnd41	blood
39	chr1:79111200-79111800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:79111200-79111800	Enhancers	Thymus	Thymus
41	chr1:79111200-79111800	Enhancers	HUVEC	blood vessel
42	chr1:79111200-79112200	Enhancers	Primary hematopoietic stem cells	blood
43	chr1:79111200-79112400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr1:79111200-79112600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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