Variant report

Variant	rs2281563
Chromosome Location	chr14:31495346-31495347
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	YY1	chr14:31494479-31495766	H1-hESC	embryonic stem cell:	n/a	chr14:31494865-31494875 chr14:31495401-31495415 chr14:31495040-31495051 chr14:31495461-31495475 chr14:31494857-31494877 chr14:31494858-31494877 chr14:31495552-31495563 chr14:31495559-31495569 chr14:31495017-31495031 chr14:31494864-31494872 chr14:31495627-31495638 chr14:31494853-31494875
2	POLR2A	chr14:31495266-31496418	K562	blood:	n/a	n/a
3	TAF1	chr14:31494492-31496449	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr14:31494459-31496522	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr14:31494592-31495740	K562	blood:	n/a	chr14:31494865-31494875 chr14:31495401-31495415 chr14:31495040-31495051 chr14:31495461-31495475 chr14:31494857-31494877 chr14:31494858-31494877 chr14:31495552-31495563 chr14:31495559-31495569 chr14:31495017-31495031 chr14:31494864-31494872 chr14:31495627-31495638 chr14:31494853-31494875
6	NFIC	chr14:31494396-31495350	GM12878	blood:	n/a	n/a
7	MAZ	chr14:31494044-31496618	IMR90	lung:	n/a	chr14:31494445-31494454 chr14:31494935-31494945 chr14:31494628-31494638
8	TAF7	chr14:31494603-31496183	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr14:31494441-31495765	ECC-1	luminal epithelium:	n/a	chr14:31494865-31494875 chr14:31495401-31495415 chr14:31495040-31495051 chr14:31495461-31495475 chr14:31494857-31494877 chr14:31494858-31494877 chr14:31495552-31495563 chr14:31495559-31495569 chr14:31495017-31495031 chr14:31494864-31494872 chr14:31495627-31495638 chr14:31494853-31494875
10	POLR2A	chr14:31494620-31496396	GM18526	blood:	n/a	n/a
11	HEY1	chr14:31494352-31496292	HepG2	liver:	n/a	chr14:31495474-31495489 chr14:31495405-31495420 chr14:31495402-31495417 chr14:31495460-31495475
12	HCFC1	chr14:31493159-31496748	Hela-S3	cervix:	n/a	n/a
13	TAF1	chr14:31494532-31496376	H1-neurons	neurons:	n/a	n/a
14	TAF1	chr14:31494622-31496367	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr14:31494497-31496456	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr14:31494688-31496428	GM12892	blood:	n/a	n/a
17	GATA3	chr14:31495268-31496614	A549	lung:	n/a	chr14:31496109-31496119
18	CHD1	chr14:31494445-31495542	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr14:31495329-31496422	SK-N-MC	brain:	n/a	n/a
20	BCLAF1	chr14:31495241-31496263	GM12878	blood:	n/a	chr14:31495947-31495955 chr14:31495476-31495485 chr14:31495807-31495816
21	NFIC	chr14:31494154-31496472	HepG2	liver:	n/a	chr14:31496163-31496179 chr14:31496162-31496179 chr14:31496161-31496178
22	RAD21	chr14:31494421-31496495	HepG2	liver:	n/a	chr14:31494871-31494884
23	SRF	chr14:31495204-31496665	HCT-116	colon:	n/a	chr14:31495496-31495506
24	FOXA1	chr14:31494800-31496406	HepG2	liver:	n/a	n/a
25	POLR2A	chr14:31494438-31496369	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr14:31494340-31496644	SK-N-MC	brain:	n/a	n/a
27	RUNX3	chr14:31494434-31496464	GM12878	blood:	n/a	n/a
28	MAX	chr14:31494343-31496372	MCF-7	breast:	n/a	chr14:31494445-31494454 chr14:31494935-31494945 chr14:31494628-31494638
29	MYBL2	chr14:31492781-31497072	HepG2	liver:	n/a	n/a
30	YY1	chr14:31494410-31495824	GM12878	blood:	n/a	chr14:31494865-31494875 chr14:31495401-31495415 chr14:31495040-31495051 chr14:31495461-31495475 chr14:31494857-31494877 chr14:31494858-31494877 chr14:31495552-31495563 chr14:31495559-31495569 chr14:31495017-31495031 chr14:31494864-31494872 chr14:31495627-31495638 chr14:31494853-31494875
31	POLR2A	chr14:31495143-31496307	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr14:31494649-31496206	GM12878	blood:	n/a	n/a
33	TAF1	chr14:31495154-31496190	K562	blood:	n/a	n/a
34	POLR2A	chr14:31494498-31496312	GM12878	blood:	n/a	n/a
35	POLR2A	chr14:31494499-31496359	GM12892	blood:	n/a	n/a
36	POLR2A	chr14:31494491-31496301	GM12878	blood:	n/a	n/a
37	UBTF	chr14:31494433-31496407	K562	blood:	n/a	n/a
38	SIN3A	chr14:31495311-31496111	GM12878	blood:	n/a	chr14:31495945-31495954 chr14:31495471-31495482
39	ZBTB7A	chr14:31494874-31495849	ECC-1	luminal epithelium:	n/a	n/a
40	FOSL2	chr14:31495273-31496443	HepG2	liver:	n/a	chr14:31495443-31495457
41	ZNF143	chr14:31494755-31496355	GM12878	blood:	n/a	chr14:31495682-31495701
42	TAF1	chr14:31495210-31496269	H1-hESC	embryonic stem cell:	n/a	n/a
43	PAX5	chr14:31494734-31495540	GM12892	blood:	n/a	n/a
44	YY1	chr14:31495227-31495940	HCT-116	colon:	n/a	chr14:31495401-31495415 chr14:31495461-31495475 chr14:31495552-31495563 chr14:31495559-31495569 chr14:31495627-31495638
45	SIN3A	chr14:31494222-31496460	H1-hESC	embryonic stem cell:	n/a	chr14:31495945-31495954 chr14:31495471-31495482
46	POLR2A	chr14:31494445-31496495	Hela-S3	cervix:	n/a	n/a
47	REST	chr14:31494384-31496400	HepG2	liver:	n/a	chr14:31495944-31495954 chr14:31495542-31495552
48	YY1	chr14:31494477-31496319	K562	blood:	n/a	chr14:31494865-31494875 chr14:31495401-31495415 chr14:31495040-31495051 chr14:31495461-31495475 chr14:31494857-31494877 chr14:31494858-31494877 chr14:31495552-31495563 chr14:31495559-31495569 chr14:31495017-31495031 chr14:31494864-31494872 chr14:31495627-31495638 chr14:31494853-31494875
49	TCF12	chr14:31494775-31495428	ECC-1	luminal epithelium:	n/a	n/a
50	PBX3	chr14:31495317-31496497	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31480033..31485916-chr14:31491801..31497532,12	MCF-7	breast:
2	chr14:31493685..31496220-chr7:73243843..73246748,2	MCF-7	breast:
3	chr14:31482144..31489136-chr14:31492335..31498565,14	MCF-7	breast:
4	chr14:31494077..31496185-chr14:31924915..31927180,2	K562	blood:
5	chr12:125398908..125399620-chr14:31495071..31496049,2	Hela-S3	cervix:
6	chr12:96793876..96794693-chr14:31494886..31495692,2	Hela-S3	cervix:
7	chr14:31493616..31495498-chr14:31675892..31677511,2	K562	blood:

Variant related genes	Relation type
AP4S1	TF binding region
ENSG00000129480	Chromatin interaction
ENSG00000207952	Chromatin interaction
ENSG00000092148	Chromatin interaction
ENSG00000059758	Chromatin interaction
ENSG00000203546	Chromatin interaction
ENSG00000150991	Chromatin interaction
ENSG00000189143	Chromatin interaction
ENSG00000258968	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10459471	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10483355	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10483356	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10483359	0.81[AMR][1000 genomes]
rs11625390	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11627379	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17097531	0.86[AMR][1000 genomes]
rs17097608	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17097614	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17097617	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1977130	0.80[AMR][1000 genomes]
rs2064823	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2378815	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3784158	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55708493	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55843943	0.80[AMR][1000 genomes]
rs56136496	0.80[AMR][1000 genomes]
rs60862458	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs60990438	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61129484	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6571374	0.80[AMR][1000 genomes]
rs7140551	0.80[AMR][1000 genomes]
rs72668381	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72670303	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8008526	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 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	chr14:31492400-31497200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:31492400-31497400	Active TSS	K562	blood
3	chr14:31492600-31496600	Active TSS	GM12878-XiMat	blood
4	chr14:31492600-31497000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr14:31493000-31496600	Active TSS	Fetal Intestine Large	intestine
6	chr14:31493000-31496800	Active TSS	Fetal Intestine Small	intestine
7	chr14:31493000-31497000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr14:31493000-31497000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:31493000-31497000	Active TSS	Stomach Smooth Muscle	stomach
10	chr14:31493000-31497000	Active TSS	HSMMtube	muscle
11	chr14:31493000-31497200	Active TSS	NHLF	lung
12	chr14:31493200-31496800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:31493200-31496800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:31493200-31496800	Active TSS	Aorta	Aorta
15	chr14:31493200-31496800	Active TSS	Right Ventricle	heart
16	chr14:31493200-31497000	Active TSS	H1 Cell Line	embryonic stem cell
17	chr14:31493200-31497000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:31493200-31497000	Active TSS	Psoas Muscle	Psoas
19	chr14:31493400-31496600	Active TSS	Fetal Muscle Leg	muscle
20	chr14:31493400-31496800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:31493400-31496800	Active TSS	Liver	Liver
22	chr14:31493400-31497000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:31493400-31497000	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr14:31493400-31497000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:31493400-31497200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:31493400-31497200	Active TSS	HMEC	breast
27	chr14:31493400-31497400	Active TSS	NHDF-Ad	bronchial
28	chr14:31493600-31496600	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr14:31493600-31497200	Active TSS	NHEK	skin
30	chr14:31493800-31496200	Active TSS	Primary T cells fromperipheralblood	blood
31	chr14:31493800-31496200	Active TSS	Fetal Thymus	thymus
32	chr14:31493800-31496600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:31493800-31496600	Active TSS	Fetal Muscle Trunk	muscle
34	chr14:31493800-31496800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:31493800-31497000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr14:31493800-31497000	Active TSS	A549	lung
37	chr14:31494000-31496600	Active TSS	Placenta	Placenta
38	chr14:31494000-31496600	Active TSS	Left Ventricle	heart
39	chr14:31494000-31496600	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr14:31494000-31496800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:31494000-31496800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:31494000-31496800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:31494000-31496800	Active TSS	Ovary	ovary
44	chr14:31494000-31496800	Bivalent/Poised TSS	HepG2	liver
45	chr14:31494000-31496800	Active TSS	NH-A	brain
46	chr14:31494000-31497000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:31494000-31497000	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr14:31494000-31497000	Active TSS	Colonic Mucosa	Colon
49	chr14:31494000-31497000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr14:31494000-31497000	Active TSS	Fetal Stomach	stomach

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