Variant report

Variant	rs7161415
Chromosome Location	chr14:71220623-71220624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr14:71220183-71220748	HepG2	liver:	n/a	n/a
2	NR2F2	chr14:71220053-71220691	HepG2	liver:	n/a	chr14:71220299-71220314
3	MXI1	chr14:71220337-71220653	HepG2	liver:	n/a	n/a
4	RAD21	chr14:71220272-71220711	HepG2	liver:	n/a	n/a
5	REST	chr14:71220393-71220759	ECC-1	luminal epithelium:	n/a	chr14:71220584-71220593
6	TEAD4	chr14:71220265-71220929	HepG2	liver:	n/a	chr14:71220773-71220782
7	FOXA2	chr14:71220126-71220664	HepG2	liver:	n/a	n/a
8	FOXA1	chr14:71220065-71220786	HepG2	liver:	n/a	n/a
9	FOXA1	chr14:71220034-71220692	HepG2	liver:	n/a	n/a
10	NR3C1	chr14:71220118-71220690	A549	lung:	n/a	n/a
11	SP1	chr14:71220042-71220821	A549	lung:	n/a	n/a
12	FOXA2	chr14:71220080-71220756	A549	lung:	n/a	n/a
13	MYBL2	chr14:71220063-71220770	HepG2	liver:	n/a	n/a
14	EP300	chr14:71220092-71220721	HepG2	liver:	n/a	n/a
15	FOXA1	chr14:71220028-71220727	HepG2	liver:	n/a	n/a
16	MYBL2	chr14:71220170-71220821	HepG2	liver:	n/a	n/a
17	EP300	chr14:71220034-71220887	A549	lung:	n/a	n/a
18	GATA3	chr14:71220151-71220808	A549	lung:	n/a	n/a
19	EP300	chr14:71220042-71220903	A549	lung:	n/a	n/a
20	ARID3A	chr14:71220371-71220825	HepG2	liver:	n/a	n/a
21	REST	chr14:71220177-71220881	A549	lung:	n/a	chr14:71220584-71220593
22	RAD21	chr14:71220249-71220707	A549	lung:	n/a	n/a
23	NFIC	chr14:71220196-71220710	HepG2	liver:	n/a	n/a
24	REST	chr14:71220456-71220717	A549	lung:	n/a	chr14:71220584-71220593
25	FOXA1	chr14:71220057-71220682	HepG2	liver:	n/a	n/a
26	EP300	chr14:71220269-71220744	HepG2	liver:	n/a	n/a
27	SP1	chr14:71220127-71220791	A549	lung:	n/a	n/a
28	SP1	chr14:71220066-71220753	HepG2	liver:	n/a	n/a
29	NR3C1	chr14:71220162-71220642	A549	lung:	n/a	n/a
30	EP300	chr14:71220161-71220812	HepG2	liver:	n/a	n/a
31	NR2F2	chr14:71219972-71220827	HepG2	liver:	n/a	chr14:71220299-71220314
32	FOXA2	chr14:71220082-71220766	A549	lung:	n/a	n/a
33	TCF12	chr14:71219807-71220745	A549	lung:	n/a	n/a
34	MAX	chr14:71220113-71220876	A549	lung:	n/a	n/a
35	MAX	chr14:71220158-71220784	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71218602..71225147-chr14:71276029..71280278,8	MCF-7	breast:
2	chr14:71189314..71191908-chr14:71220289..71222021,3	MCF-7	breast:

No data

Variant related genes	Relation type
MAP3K9	TF binding region
ENSG00000006432	Chromatin interaction
ENSG00000259153	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10873240	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11620710	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11621269	0.86[ASN][1000 genomes]
rs11622867	0.86[ASN][1000 genomes]
rs11622989	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11626707	0.86[ASN][1000 genomes]
rs11852001	0.85[ASN][1000 genomes]
rs12433469	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12437037	0.86[ASN][1000 genomes]
rs12437256	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12883087	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12883244	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12895576	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1548585	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17108510	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2158528	0.81[ASN][1000 genomes]
rs2332457	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34307438	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35438375	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs36025596	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4899371	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4902847	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902848	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902855	0.86[ASN][1000 genomes]
rs61359483	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6573979	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7147731	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7151405	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7154907	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7160912	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72721934	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8005459	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8014356	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8014624	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8022269	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8022410	0.82[ASN][1000 genomes]
rs8022803	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71186000-71221600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:71186000-71221600	Weak transcription	Hela-S3	cervix
3	chr14:71192600-71221800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:71194000-71222000	Weak transcription	HSMMtube	muscle
5	chr14:71194400-71221600	Weak transcription	Left Ventricle	heart
6	chr14:71194600-71221600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:71197000-71228800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:71198400-71223400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:71200600-71224200	Weak transcription	Spleen	Spleen
10	chr14:71201200-71228000	Weak transcription	Colonic Mucosa	Colon
11	chr14:71204800-71229400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:71206800-71221000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:71206800-71231600	Weak transcription	Brain Anterior Caudate	brain
14	chr14:71207000-71221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:71207000-71221800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:71209200-71229400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr14:71209400-71221600	Weak transcription	Esophagus	oesophagus
18	chr14:71209400-71238200	Weak transcription	Fetal Stomach	stomach
19	chr14:71209400-71238400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:71209400-71238400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:71209600-71229000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr14:71212000-71238200	Weak transcription	Fetal Intestine Small	intestine
23	chr14:71214400-71222000	Weak transcription	Psoas Muscle	Psoas
24	chr14:71215600-71221800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:71215600-71227000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:71215600-71227400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:71215800-71222000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:71215800-71227000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:71215800-71232200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:71216200-71226800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:71216400-71221800	Weak transcription	Fetal Brain Female	brain
32	chr14:71216400-71238200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:71216600-71222200	Weak transcription	Primary T cells from cord blood	blood
34	chr14:71216600-71224600	Weak transcription	Placenta	Placenta
35	chr14:71216600-71245800	Weak transcription	Brain Germinal Matrix	brain
36	chr14:71216800-71220800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:71216800-71222000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:71216800-71225600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr14:71216800-71226400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:71216800-71238400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:71217000-71222000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:71217200-71221800	Weak transcription	Primary B cells from cord blood	blood
43	chr14:71218600-71220800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:71219000-71220800	Enhancers	Fetal Lung	lung
45	chr14:71219000-71221000	Enhancers	Pancreas	Pancrea
46	chr14:71219000-71223600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:71219200-71222400	Enhancers	Stomach Mucosa	stomach
48	chr14:71219600-71220800	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr14:71219600-71221400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr14:71219800-71221600	Weak transcription	H1 Cell Line	embryonic stem cell

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