Variant report

Variant	rs943991
Chromosome Location	chr14:21540062-21540063
allele	C/T
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	MAZ	chr14:21539313-21540144	GM12878	blood:	n/a	chr14:21539487-21539497 chr14:21539744-21539754
2	MTA3	chr14:21539331-21540089	GM12878	blood:	n/a	n/a
3	MYC	chr14:21539725-21540098	K562	blood:	n/a	chr14:21539744-21539754
4	EGR1	chr14:21539787-21540107	K562	blood:	n/a	chr14:21539913-21539922 chr14:21539940-21539949 chr14:21539936-21539950 chr14:21539940-21539950 chr14:21539912-21539925 chr14:21539939-21539952 chr14:21539909-21539923 chr14:21539939-21539952 chr14:21539938-21539952 chr14:21539993-21540006 chr14:21539940-21539950
5	ZBTB7A	chr14:21537683-21540277	ECC-1	luminal epithelium:	n/a	chr14:21538613-21538621 chr14:21538061-21538068
6	CEBPB	chr14:21539731-21540748	IMR90	lung:	n/a	n/a
7	REST	chr14:21536555-21540236	H1-neurons	neurons:	n/a	chr14:21537270-21537288 chr14:21538446-21538455 chr14:21539665-21539678 chr14:21537275-21537288 chr14:21538419-21538432 chr14:21537085-21537098
8	EGR1	chr14:21539384-21540082	H1-hESC	embryonic stem cell:	n/a	chr14:21539913-21539922 chr14:21539940-21539949 chr14:21539936-21539950 chr14:21539940-21539950 chr14:21539912-21539925 chr14:21539939-21539952 chr14:21539909-21539923 chr14:21539939-21539952 chr14:21539745-21539755 chr14:21539938-21539952 chr14:21539993-21540006 chr14:21539940-21539950
9	EGR1	chr14:21539762-21540212	ECC-1	luminal epithelium:	n/a	chr14:21539913-21539922 chr14:21539940-21539949 chr14:21539936-21539950 chr14:21539940-21539950 chr14:21539912-21539925 chr14:21539939-21539952 chr14:21539909-21539923 chr14:21539939-21539952 chr14:21539938-21539952 chr14:21539993-21540006 chr14:21539940-21539950
10	REST	chr14:21539637-21540079	SK-N-SH	brain:	n/a	chr14:21539665-21539678
11	TCF12	chr14:21539310-21540178	ECC-1	luminal epithelium:	n/a	n/a
12	MAZ	chr14:21539500-21540069	K562	blood:	n/a	chr14:21539744-21539754
13	MAFK	chr14:21538989-21540584	IMR90	lung:	n/a	n/a
14	POLR2A	chr14:21539056-21540673	U87	brain:	n/a	n/a
15	MAX	chr14:21538706-21540096	NB4	blood:	n/a	chr14:21539487-21539497 chr14:21539744-21539754
16	TCF12	chr14:21538626-21540618	SK-N-SH	brain:	n/a	n/a
17	MAX	chr14:21539029-21540077	A549	lung:	n/a	chr14:21539487-21539497 chr14:21539744-21539754
18	POLR2A	chr14:21537537-21540145	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr14:21538957-21540790	HL-60	blood:	n/a	n/a
20	MYC	chr14:21538558-21540063	NB4	blood:	n/a	chr14:21539487-21539497 chr14:21539744-21539754
21	MAX	chr14:21539420-21540071	H1-hESC	embryonic stem cell:	n/a	chr14:21539487-21539497 chr14:21539744-21539754
22	RAD21	chr14:21539561-21540624	IMR90	lung:	n/a	chr14:21539711-21539725
23	POLR2A	chr14:21539201-21540552	U87	brain:	n/a	n/a
24	SMC3	chr14:21536425-21540907	SK-N-SH	brain:	n/a	chr14:21536769-21536783
25	POLR2A	chr14:21539255-21540484	U87	brain:	n/a	n/a
26	TCF12	chr14:21539337-21540248	SK-N-SH	brain:	n/a	n/a
27	MAZ	chr14:21536460-21541162	IMR90	lung:	n/a	chr14:21536927-21536936 chr14:21539487-21539497 chr14:21538216-21538226 chr14:21539744-21539754
28	POLR2A	chr14:21538380-21540387	PFSK-1	brain:	n/a	n/a
29	SIN3A	chr14:21536683-21540315	H1-hESC	embryonic stem cell:	n/a	chr14:21538445-21538453
30	POLR2A	chr14:21537496-21540066	HepG2	liver:	n/a	n/a
31	POLR2A	chr14:21539062-21540673	U87	brain:	n/a	n/a
32	ZNF263	chr14:21538413-21541547	HEK293-T-REx	kidney:	n/a	chr14:21539767-21539776 chr14:21539753-21539774 chr14:21540466-21540475 chr14:21540463-21540472
33	POLR2A	chr14:21539078-21540112	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr14:21538926-21540082	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr14:21539718-21540064	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr14:21539023-21540157	SK-N-SH	brain:	n/a	chr14:21539487-21539497 chr14:21539744-21539754
37	POLR2A	chr14:21538911-21540101	Gliobla	brain:	n/a	n/a
38	POLR2A	chr14:21536820-21540229	H1-hESC	embryonic stem cell:	n/a	n/a
39	REST	chr14:21539036-21540179	HL-60	blood:	n/a	chr14:21539665-21539678
40	POLR2A	chr14:21537427-21540226	HepG2	liver:	n/a	n/a
41	EP300	chr14:21539171-21540248	SK-N-SH	brain:	n/a	chr14:21539654-21539668 chr14:21540219-21540233 chr14:21539648-21539662 chr14:21540218-21540232 chr14:21540012-21540028
42	TAF1	chr14:21539479-21540082	H1-neurons	neurons:	n/a	n/a
43	MAX	chr14:21539283-21540101	SK-N-SH	brain:	n/a	chr14:21539487-21539497 chr14:21539744-21539754
44	POLR2A	chr14:21538407-21540696	HL-60	blood:	n/a	n/a
45	EGR1	chr14:21539872-21540093	GM12878	blood:	n/a	chr14:21539913-21539922 chr14:21539940-21539949 chr14:21539936-21539950 chr14:21539940-21539950 chr14:21539912-21539925 chr14:21539939-21539952 chr14:21539909-21539923 chr14:21539939-21539952 chr14:21539938-21539952 chr14:21539993-21540006 chr14:21539940-21539950
46	EGR1	chr14:21539745-21540204	ECC-1	luminal epithelium:	n/a	chr14:21539913-21539922 chr14:21539940-21539949 chr14:21539936-21539950 chr14:21539940-21539950 chr14:21539912-21539925 chr14:21539939-21539952 chr14:21539909-21539923 chr14:21539939-21539952 chr14:21539745-21539755 chr14:21539938-21539952 chr14:21539993-21540006 chr14:21539940-21539950
47	SPI1	chr14:21539221-21540080	GM12878	blood:	n/a	chr14:21539653-21539666 chr14:21539652-21539665 chr14:21539655-21539664 chr14:21539652-21539665
48	MAX	chr14:21536535-21540177	HepG2	liver:	n/a	chr14:21536927-21536936 chr14:21539487-21539497 chr14:21538216-21538226 chr14:21539744-21539754
49	ZBTB7A	chr14:21537789-21540132	ECC-1	luminal epithelium:	n/a	chr14:21538613-21538621 chr14:21538061-21538068
50	POLR2A	chr14:21539433-21540110	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:21540022-21540072	A549	lung:	n/a
2	chr14:21540022-21540072	Jurkat	blood:	n/a
3	chr14:21540022-21540072	NHBE	bronchial:	n/a
4	chr14:21540022-21540072	NT2-D1	testis:	n/a
5	chr14:21540022-21540072	GM12878	blood:	n/a
6	chr14:21540022-21540072	NH-A	brain:	n/a
7	chr14:21540022-21540072	NHDF-neo	bronchial:	n/a
8	chr14:21540022-21540072	HAEpiC	amniotic membrane:	n/a
9	chr14:21540022-21540072	MCF-7	breast:	n/a
10	chr14:21540022-21540072	HMEC	breast:	n/a
11	chr14:21540022-21540072	HNPCEpiC	eye:	n/a
12	chr14:21540022-21540072	AoSMC	blood vessel:	n/a
13	chr14:21540022-21540072	SK-N-MC	brain:	n/a
14	chr14:21540022-21540072	ProgFib	skin:	n/a
15	chr14:21540022-21540072	HRCEpiC	kidney:	n/a
16	chr14:21540022-21540072	HPAEpiC	pulmonary alveolar:	n/a
17	chr14:21540022-21540072	Hela-S3	cervix:	n/a
18	chr14:21540022-21540072	SK-N-SH_RA	brain:	n/a
19	chr14:21540022-21540072	BJ	skin:	n/a
20	chr14:21540022-21540072	GM12892	blood:	n/a
21	chr14:21540022-21540072	Hepatocyte	liver:	n/a
22	chr14:21540022-21540072	HCF	heart:	n/a
23	chr14:21540022-21540072	H1-hESC	embryonic stem cell:	embryo
24	chr14:21540022-21540072	LNCaP	prostate:	n/a
25	chr14:21540022-21540072	ECC-1	luminal epithelium:	n/a
26	chr14:21540022-21540072	AG09319	gingival:	n/a
27	chr14:21540022-21540072	HepG2	liver:	n/a
28	chr14:21540022-21540072	HUVEC	blood vessel:	n/a
29	chr14:21540022-21540072	AG10803	skin:	n/a
30	chr14:21540022-21540072	HCM	heart:	n/a
31	chr14:21540022-21540072	CMK	blood:	n/a
32	chr14:21540022-21540072	IMR90	lung:	fetal
33	chr14:21540022-21540072	K562	blood:	n/a
34	chr14:21540022-21540072	U87	brain:	n/a
35	chr14:21540022-21540072	SKMC	muscle:	n/a
36	chr14:21540022-21540072	MCF10A-Er-Src	breast:	n/a
37	chr14:21540022-21540072	ovcar-3	ovarian:	n/a
38	chr14:21540022-21540072	AG04449	skin:	fetal
39	chr14:21540022-21540072	GM12891	blood:	n/a
40	chr14:21540022-21540072	HEK293	kidney:	embryo
41	chr14:21540022-21540072	PFSK-1	brain:	n/a
42	chr14:21540022-21540072	HIPEpiC	eye:	n/a
43	chr14:21540022-21540072	SAEC	small airway:	n/a
44	chr14:21540022-21540072	PrEC	prostate:	n/a
45	chr14:21540022-21540072	BE2_C	brain:	n/a
46	chr14:21540022-21540072	HL-60	blood:	n/a
47	chr14:21540022-21540072	AG09309	skin:	n/a
48	chr14:21540022-21540072	HEEpiC	esophagus:	n/a
49	chr14:21540022-21540072	HCT-116	colon:	n/a
50	chr14:21540022-21540072	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21535250..21540469-chr14:21570413..21576715,8	K562	blood:
2	chr14:21537028..21541987-chr14:21553672..21557659,5	MCF-7	breast:
3	chr14:21539183..21541334-chr14:21547839..21549455,2	K562	blood:
4	chr14:21535299..21541334-chr14:21568487..21576770,16	MCF-7	breast:
5	chr14:21535130..21541812-chr14:21564802..21576767,22	MCF-7	breast:
6	chr14:21538435..21540879-chr14:21565246..21568452,4	K562	blood:
7	chr14:21535951..21540860-chr14:21573309..21578466,6	K562	blood:
8	chr14:21539634..21541782-chr14:21548249..21551082,2	MCF-7	breast:
9	chr14:21507927..21508724-chr14:21539605..21540435,2	K562	blood:
10	chr14:21539411..21540293-chr9:130213350..130214291,2	NB4	blood:
11	chr14:21534879..21542621-chr14:21563384..21568050,9	MCF-7	breast:

Variant related genes	Relation type
ARHGEF40	TF binding region
NDRG2	TF binding region
NDRG2	CpG island
ARHGEF40	CpG island
ENSG00000148356	Chromatin interaction
ENSG00000232070	Chromatin interaction
ENSG00000165804	Chromatin interaction
ENSG00000178107	Chromatin interaction
ENSG00000197958	Chromatin interaction
ENSG00000165801	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11629332	0.80[ASN][1000 genomes]
rs1952151	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1958395	0.82[ASN][1000 genomes]
rs3827911	0.87[CHB][hapmap];0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs3827913	0.84[CEU][hapmap];0.95[CHB][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4982404	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4982406	0.83[CHB][hapmap];0.90[CHD][hapmap];0.80[ASN][1000 genomes]
rs7140850	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7143633	0.82[CHB][hapmap]
rs7149011	0.82[CHB][hapmap];0.90[CHD][hapmap];0.80[ASN][1000 genomes]
rs8019890	0.95[GIH][hapmap];0.84[LWK][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.96[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
2	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs943991	ANG	cis	cerebellum	SCAN
rs943991	OR4K14	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21536800-21540200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:21536800-21540200	Active TSS	Aorta	Aorta
3	chr14:21536800-21540200	Active TSS	Fetal Kidney	kidney
4	chr14:21536800-21540400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:21536800-21540400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:21536800-21540600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:21537000-21540200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr14:21537200-21540200	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr14:21537200-21540200	Active TSS	Ovary	ovary
10	chr14:21537400-21540200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr14:21537400-21540200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr14:21537600-21540200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr14:21537800-21540200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:21537800-21540200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:21537800-21540200	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr14:21538000-21540200	Active TSS	Fetal Lung	lung
17	chr14:21538000-21540200	Active TSS	Rectal Smooth Muscle	rectum
18	chr14:21538000-21540200	Flanking Active TSS	HMEC	breast
19	chr14:21538000-21540600	Active TSS	Colon Smooth Muscle	Colon
20	chr14:21538200-21540200	Active TSS	Pancreas	Pancrea
21	chr14:21538200-21540200	Active TSS	Right Ventricle	heart
22	chr14:21538200-21540200	Active TSS	HSMM	muscle
23	chr14:21538400-21540200	Flanking Bivalent TSS/Enh	Dnd41	blood
24	chr14:21538600-21540400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr14:21538600-21540600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:21538600-21540600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:21538600-21540600	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr14:21538600-21540800	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr14:21538800-21540200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:21538800-21540400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr14:21538800-21540400	Active TSS	Right Atrium	heart
32	chr14:21538800-21540800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:21538800-21541000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr14:21539000-21540400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr14:21539000-21540400	Flanking Active TSS	NHEK	skin
36	chr14:21539000-21541200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:21539200-21540200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:21539200-21540400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:21539400-21540200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:21539400-21540400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
41	chr14:21539400-21540400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:21539600-21540200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:21539600-21540200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
44	chr14:21539600-21540200	Active TSS	Colonic Mucosa	Colon
45	chr14:21539600-21540200	Flanking Active TSS	Placenta	Placenta
46	chr14:21539600-21540400	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr14:21539600-21540400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:21539600-21540400	Enhancers	Fetal Brain Male	brain
49	chr14:21539600-21540600	Flanking Active TSS	Fetal Brain Female	brain
50	chr14:21539600-21541000	Enhancers	Spleen	Spleen

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