Variant report

Variant	rs35669843
Chromosome Location	chr14:37051634-37051635
allele	C/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	POLR2A	chr14:37051392-37051790	MCF-7	breast:	n/a	n/a
2	ZBTB7A	chr14:37051248-37051846	ECC-1	luminal epithelium:	n/a	n/a
3	YY1	chr14:37051396-37051735	HCT-116	colon:	n/a	chr14:37051617-37051628
4	TAF1	chr14:37051411-37051918	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr14:37051395-37052111	HCT-116	colon:	n/a	n/a
6	MAX	chr14:37051333-37051831	ECC-1	luminal epithelium:	n/a	chr14:37051387-37051396 chr14:37051687-37051696 chr14:37051611-37051621
7	POLR2A	chr14:37051373-37051740	H1-neurons	neurons:	n/a	n/a
8	MYC	chr14:37051621-37051658	MCF-7	breast:	n/a	n/a
9	POLR2A	chr14:37051417-37051830	ECC-1	luminal epithelium:	n/a	n/a
10	YY1	chr14:37051461-37051704	A549	lung:	n/a	chr14:37051617-37051628
11	MAX	chr14:37051158-37051914	A549	lung:	n/a	chr14:37051387-37051396 chr14:37051687-37051696 chr14:37051611-37051621
12	SUZ12	chr14:37048394-37054757	H1-hESC	embryonic stem cell:	n/a	n/a
13	EGR1	chr14:37051330-37052012	HCT-116	colon:	n/a	chr14:37051605-37051618 chr14:37051610-37051620 chr14:37051611-37051624
14	POLR2A	chr14:37051379-37051845	HCT-116	colon:	n/a	n/a
15	MYC	chr14:37051522-37051705	MCF-7	breast:	n/a	chr14:37051687-37051696 chr14:37051611-37051621
16	YY1	chr14:37051399-37051806	ECC-1	luminal epithelium:	n/a	chr14:37051617-37051628
17	MAX	chr14:37051125-37051878	MCF-7	breast:	n/a	chr14:37051387-37051396 chr14:37051687-37051696 chr14:37051611-37051621
18	MAX	chr14:37051407-37051767	H1-hESC	embryonic stem cell:	n/a	chr14:37051687-37051696 chr14:37051611-37051621
19	TCF12	chr14:37051225-37051828	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr14:37051578-37051690	Gliobla	brain:	n/a	n/a
21	CTCF	chr14:37051520-37051670	HEK293	kidney:	n/a	n/a
22	YY1	chr14:37051339-37051828	ECC-1	luminal epithelium:	n/a	chr14:37051617-37051628
23	YY1	chr14:37051416-37051752	H1-hESC	embryonic stem cell:	n/a	chr14:37051617-37051628
24	ZBTB7A	chr14:37051189-37051792	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:37049506..37051705-chr14:37066092..37068033,2	MCF-7	breast:

Variant related genes	Relation type
RPL29P3	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10047867	0.82[ASN][1000 genomes]
rs10047954	0.82[ASN][1000 genomes]
rs10145174	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10148530	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10483473	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11623436	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11624322	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11624339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624376	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11624740	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11629237	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12878375	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12893651	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17104686	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17104788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1951165	0.82[ASN][1000 genomes]
rs1951166	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2899853	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35770599	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs35855456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4300555	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4903224	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5023326	0.90[AFR][1000 genomes]
rs55787458	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7159131	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv949612	chr14:36996206-37121633	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv32575	chr14:37047629-37052658	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35669843	NKX2-8	cis	Esophagus Mucosa	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37048000-37054800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:37048800-37051800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:37049000-37052400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr14:37049200-37051800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:37049600-37052200	Bivalent Enhancer	Fetal Brain Male	brain
6	chr14:37049800-37051800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
7	chr14:37050000-37051800	Flanking Active TSS	Pancreas	Pancrea
8	chr14:37050000-37051800	Active TSS	A549	lung
9	chr14:37050000-37052200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr14:37050000-37052200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
11	chr14:37050000-37052400	Active TSS	Right Atrium	heart
12	chr14:37050200-37052000	Bivalent/Poised TSS	HSMM	muscle
13	chr14:37050200-37052200	Bivalent/Poised TSS	Psoas Muscle	Psoas
14	chr14:37050400-37051800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:37050400-37052800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr14:37050600-37052200	Active TSS	Brain Substantia Nigra	brain
17	chr14:37050800-37051800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:37050800-37051800	Bivalent Enhancer	Liver	Liver
19	chr14:37050800-37051800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
20	chr14:37050800-37052800	Bivalent Enhancer	Left Ventricle	heart
21	chr14:37050800-37053800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr14:37051000-37051800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:37051000-37051800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr14:37051000-37051800	Flanking Bivalent TSS/Enh	HMEC	breast
25	chr14:37051000-37052000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr14:37051000-37052400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr14:37051200-37051800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:37051200-37051800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:37051200-37051800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:37051200-37051800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
31	chr14:37051200-37051800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
32	chr14:37051200-37051800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
33	chr14:37051200-37051800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
34	chr14:37051200-37051800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
35	chr14:37051200-37051800	Active TSS	Hela-S3	cervix
36	chr14:37051400-37051800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:37051400-37051800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:37051400-37051800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:37051400-37051800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr14:37051400-37051800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:37051400-37051800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:37051400-37051800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:37051400-37051800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
44	chr14:37051400-37051800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
45	chr14:37051400-37051800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:37051400-37051800	Bivalent/Poised TSS	Esophagus	oesophagus
47	chr14:37051400-37051800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
48	chr14:37051400-37051800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
49	chr14:37051400-37052000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
50	chr14:37051400-37052200	Bivalent/Poised TSS	Brain Angular Gyrus	brain

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