Variant report

Variant	rs61990288
Chromosome Location	chr14:42074726-42074727
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	CTCF	chr14:42074680-42074830	NHDF-neo	bronchial:	n/a	n/a
2	SP1	chr14:42073940-42074909	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr14:42074273-42074890	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr14:42074394-42075538	H1-hESC	embryonic stem cell:	n/a	chr14:42075117-42075127 chr14:42075116-42075129 chr14:42075117-42075126 chr14:42075116-42075131 chr14:42075118-42075127 chr14:42075117-42075128 chr14:42075118-42075128 chr14:42075118-42075127 chr14:42075117-42075127 chr14:42075119-42075126 chr14:42075117-42075128 chr14:42074668-42074676
5	MXI1	chr14:42074259-42076033	H1-hESC	embryonic stem cell:	n/a	n/a
6	TBP	chr14:42074433-42074796	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:42074053-42074928	PANC-1	pancreas:	n/a	n/a
8	TEAD4	chr14:42074415-42074804	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr14:42073980-42074805	H1-hESC	embryonic stem cell:	n/a	n/a
10	TCF12	chr14:42074396-42074754	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr14:42073356-42076621	SK-N-MC	brain:	n/a	n/a
12	JUND	chr14:42074385-42074783	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3A	chr14:42073598-42077869	H1-hESC	embryonic stem cell:	n/a	chr14:42077621-42077630 chr14:42076170-42076179 chr14:42075971-42075982
14	CTBP2	chr14:42074050-42077848	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr14:42074322-42074821	H1-hESC	embryonic stem cell:	n/a	n/a
16	TAF1	chr14:42074421-42074760	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZNF143	chr14:42074019-42075530	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUND	chr14:42074457-42074744	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr14:42074437-42075475	H1-hESC	embryonic stem cell:	n/a	n/a
20	SP1	chr14:42073961-42074880	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr14:42074035-42075443	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr14:42073393-42074802	SK-N-MC	brain:	n/a	n/a
23	TCF7L2	chr14:42073667-42074801	PANC-1	pancreas:	n/a	chr14:42074037-42074051 chr14:42074040-42074050 chr14:42074036-42074052
24	RAD21	chr14:42074053-42074804	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr14:42074348-42074748	H1-hESC	embryonic stem cell:	n/a	n/a
26	RFX5	chr14:42074264-42074767	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr14:42074376-42074856	H1-hESC	embryonic stem cell:	n/a	chr14:42074668-42074676
28	MAX	chr14:42074297-42075453	H1-hESC	embryonic stem cell:	n/a	chr14:42075117-42075127 chr14:42075116-42075129 chr14:42075117-42075126 chr14:42075116-42075131 chr14:42075118-42075127 chr14:42075117-42075128 chr14:42075118-42075128 chr14:42075118-42075127 chr14:42075117-42075127 chr14:42075119-42075126 chr14:42075117-42075128 chr14:42074668-42074676
29	EGR1	chr14:42074365-42074826	H1-hESC	embryonic stem cell:	n/a	n/a
30	EP300	chr14:42073970-42074762	H1-hESC	embryonic stem cell:	n/a	n/a
31	E2F6	chr14:42074294-42075502	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr14:42073965-42075640	PANC-1	pancreas:	n/a	n/a
33	TAF1	chr14:42074101-42074830	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr14:42073984-42074838	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr14:42074349-42074757	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr14:42074058-42074918	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000258636	TF binding region
LRFN5	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10131184	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10149052	0.81[AMR][1000 genomes]
rs10483526	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1103437	0.82[ASN][1000 genomes]
rs1111037	0.82[ASN][1000 genomes]
rs1111177	0.97[EUR][1000 genomes]
rs1111179	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11157240	0.84[EUR][1000 genomes]
rs11157241	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1137567	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12431444	0.98[EUR][1000 genomes]
rs12437380	0.82[ASN][1000 genomes]
rs12589043	0.82[EUR][1000 genomes]
rs1609735	0.97[EUR][1000 genomes]
rs17781288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950831	0.91[EUR][1000 genomes]
rs1950834	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1950835	0.97[EUR][1000 genomes]
rs1950836	0.86[EUR][1000 genomes]
rs1950838	0.92[EUR][1000 genomes]
rs1956445	0.91[ASN][1000 genomes]
rs1956450	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121708	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4356390	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55897228	0.91[ASN][1000 genomes]
rs61990271	0.82[ASN][1000 genomes]
rs61990273	0.82[ASN][1000 genomes]
rs61990274	0.82[ASN][1000 genomes]
rs61990275	0.82[ASN][1000 genomes]
rs61990286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990287	1.00[ASN][1000 genomes]
rs61990289	0.97[EUR][1000 genomes]
rs6572099	0.91[EUR][1000 genomes]
rs7148091	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72684563	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8003822	0.91[EUR][1000 genomes]
rs8007172	0.90[EUR][1000 genomes]
rs8013655	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047300	chr14:41671653-42361098	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831164	chr14:41673017-42103168	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv533968	chr14:41882101-42327882	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1042078	chr14:41993985-42120143	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2758353	chr14:42045873-42259511	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2759983	chr14:42045873-42259511	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42070200-42076800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:42070800-42077000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:42071000-42076200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:42071400-42076200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr14:42071400-42079800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr14:42071800-42074800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:42072000-42078000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr14:42072200-42076400	Active TSS	Fetal Lung	lung
9	chr14:42072800-42077000	Active TSS	Fetal Kidney	kidney
10	chr14:42073000-42076200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr14:42073000-42076600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:42073000-42077200	Active TSS	Ovary	ovary
13	chr14:42073000-42079600	Active TSS	Right Atrium	heart
14	chr14:42073200-42074800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:42073200-42076400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr14:42073200-42076800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:42073400-42074800	Active TSS	Placenta Amnion	Placenta Amnion
18	chr14:42073400-42074800	Active TSS	Right Ventricle	heart
19	chr14:42073400-42076200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:42073400-42076400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:42073400-42076400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:42073400-42076400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
23	chr14:42073400-42076400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
24	chr14:42073400-42076800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr14:42073600-42074800	Bivalent Enhancer	Liver	Liver
26	chr14:42073600-42074800	Active TSS	Colon Smooth Muscle	Colon
27	chr14:42073600-42074800	Bivalent/Poised TSS	HUVEC	blood vessel
28	chr14:42073600-42075000	Bivalent Enhancer	Spleen	Spleen
29	chr14:42073600-42075200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
30	chr14:42073600-42075600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:42073600-42075600	Bivalent/Poised TSS	NHDF-Ad	bronchial
32	chr14:42073600-42078400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
33	chr14:42073600-42079800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
34	chr14:42073800-42074800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:42073800-42074800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
36	chr14:42073800-42074800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
37	chr14:42073800-42074800	Active TSS	Esophagus	oesophagus
38	chr14:42073800-42075600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:42073800-42075800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:42073800-42076800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:42073800-42076800	Bivalent/Poised TSS	Osteobl	bone
42	chr14:42073800-42077600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
43	chr14:42073800-42077800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr14:42073800-42077800	Bivalent/Poised TSS	Left Ventricle	heart
45	chr14:42074000-42074800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:42074000-42074800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr14:42074000-42074800	Flanking Bivalent TSS/Enh	HepG2	liver
48	chr14:42074000-42075000	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr14:42074000-42075600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
50	chr14:42074000-42077400	Bivalent/Poised TSS	Fetal Thymus	thymus

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