Variant report

Variant	rs35129919
Chromosome Location	chr5:95197339-95197340
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	RUNX3	chr5:95197079-95197975	GM12878	blood:	n/a	chr5:95197394-95197403
2	MAZ	chr5:95197237-95197383	HepG2	liver:	n/a	n/a
3	TFAP2C	chr5:95197051-95198087	Hela-S3	cervix:	n/a	n/a
4	STAT3	chr5:95197092-95198152	MCF10A-Er-Src	breast:	n/a	chr5:95198072-95198084 chr5:95197241-95197249 chr5:95197854-95197861 chr5:95197364-95197372
5	USF1	chr5:95197040-95197353	SK-N-SH_RA	brain:	n/a	n/a
6	MAZ	chr5:95197169-95197365	K562	blood:	n/a	n/a
7	FOS	chr5:95197108-95198094	MCF10A-Er-Src	breast:	n/a	chr5:95197782-95197791
8	CEBPB	chr5:95196874-95197640	HCT-116	colon:	n/a	chr5:95197239-95197250 chr5:95197241-95197252 chr5:95197239-95197252
9	USF1	chr5:95197024-95197471	ECC-1	luminal epithelium:	n/a	n/a
10	YY1	chr5:95197212-95197569	GM12891	blood:	n/a	chr5:95197417-95197426
11	USF1	chr5:95197003-95197441	A549	lung:	n/a	n/a
12	CEBPB	chr5:95197010-95197578	HCT-116	colon:	n/a	chr5:95197239-95197250 chr5:95197241-95197252 chr5:95197239-95197252
13	CEBPB	chr5:95197068-95197467	ECC-1	luminal epithelium:	n/a	chr5:95197239-95197250 chr5:95197241-95197252 chr5:95197239-95197252
14	BRCA1	chr5:95197190-95197379	HepG2	liver:	n/a	n/a
15	TEAD4	chr5:95196973-95197810	HepG2	liver:	n/a	n/a
16	MAX	chr5:95196878-95198691	Hela-S3	cervix:	n/a	chr5:95198034-95198045
17	FOSL2	chr5:95197115-95197482	A549	lung:	n/a	n/a
18	MAX	chr5:95196913-95197565	A549	lung:	n/a	n/a
19	ARID3A	chr5:95197064-95197898	HepG2	liver:	n/a	n/a
20	FOS	chr5:95197113-95198020	MCF10A-Er-Src	breast:	n/a	chr5:95197782-95197791
21	USF1	chr5:95197015-95197552	A549	lung:	n/a	n/a
22	RCOR1	chr5:95196984-95198737	Hela-S3	cervix:	n/a	n/a
23	MAFK	chr5:95197167-95197451	HepG2	liver:	n/a	n/a
24	POLR2A	chr5:95197072-95197620	SK-N-SH	brain:	n/a	n/a
25	MBD4	chr5:95196919-95197586	HepG2	liver:	n/a	n/a
26	STAT3	chr5:95197109-95197423	MCF10A-Er-Src	breast:	n/a	chr5:95197241-95197249 chr5:95197364-95197372
27	NFIC	chr5:95196978-95197740	HepG2	liver:	n/a	n/a
28	GATA3	chr5:95196982-95198097	A549	lung:	n/a	chr5:95197783-95197792
29	CEBPB	chr5:95197048-95197551	HepG2	liver:	n/a	chr5:95197239-95197250 chr5:95197241-95197252 chr5:95197239-95197252
30	YY1	chr5:95197213-95197589	SK-N-SH_RA	brain:	n/a	chr5:95197417-95197426
31	TBP	chr5:95197097-95197828	HepG2	liver:	n/a	n/a
32	REST	chr5:95197075-95197362	Hela-S3	cervix:	n/a	n/a
33	JUN	chr5:95197189-95197973	HepG2	liver:	n/a	chr5:95197782-95197791
34	HDAC2	chr5:95197030-95197696	HepG2	liver:	n/a	n/a
35	POLR2A	chr5:95196808-95199477	HepG2	liver:	n/a	n/a
36	MAX	chr5:95196984-95197587	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr5:95196678-95199527	Hela-S3	cervix:	n/a	n/a
38	EP300	chr5:95197070-95197361	SK-N-SH_RA	brain:	n/a	n/a
39	FOXA2	chr5:95197091-95197597	HepG2	liver:	n/a	n/a
40	MYC	chr5:95197043-95197346	K562	blood:	n/a	n/a
41	POLR2A	chr5:95196899-95197997	HUVEC	blood vessel:	n/a	n/a
42	REST	chr5:95197060-95197428	HepG2	liver:	n/a	n/a
43	BHLHE40	chr5:95197016-95197418	HepG2	liver:	n/a	n/a
44	CEBPB	chr5:95196911-95197945	IMR90	lung:	n/a	chr5:95197239-95197250 chr5:95197241-95197252 chr5:95197239-95197252
45	CEBPB	chr5:95197203-95197350	H1-hESC	embryonic stem cell:	n/a	chr5:95197239-95197250 chr5:95197241-95197252 chr5:95197239-95197252
46	SP1	chr5:95196934-95197544	A549	lung:	n/a	n/a
47	MAFK	chr5:95197023-95198205	Hela-S3	cervix:	n/a	n/a
48	RAD21	chr5:95196856-95197979	Hela-S3	cervix:	n/a	n/a
49	SMC3	chr5:95196978-95198215	Hela-S3	cervix:	n/a	n/a
50	MYC	chr5:95197028-95197505	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95195786..95198605-chr5:95296132..95297926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250362	TF binding region
ENSG00000251314	Chromatin interaction
ENSG00000118985	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11135439	1.00[ASN][1000 genomes]
rs17085164	1.00[ASN][1000 genomes]
rs17463444	1.00[ASN][1000 genomes]
rs17463911	1.00[ASN][1000 genomes]
rs17464446	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257683	1.00[ASN][1000 genomes]
rs28926194	1.00[ASN][1000 genomes]
rs60575087	1.00[ASN][1000 genomes]
rs6556889	1.00[ASN][1000 genomes]
rs6888777	1.00[ASN][1000 genomes]
rs6891719	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95179000-95206000	Weak transcription	Spleen	Spleen
2	chr5:95192000-95201400	Enhancers	Placenta	Placenta
3	chr5:95192200-95199400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:95192400-95199200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr5:95194000-95200800	Weak transcription	Gastric	stomach
6	chr5:95194200-95199000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:95194200-95203000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr5:95194800-95199400	Enhancers	Liver	Liver
9	chr5:95195000-95197400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:95195000-95197600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:95195000-95198400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:95195000-95198400	Weak transcription	Colonic Mucosa	Colon
13	chr5:95195000-95199000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:95195000-95200200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:95195000-95200600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr5:95195000-95206400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:95195000-95208400	Weak transcription	Ovary	ovary
18	chr5:95195200-95197600	Weak transcription	Brain Angular Gyrus	brain
19	chr5:95195200-95198800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:95195200-95199000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:95195200-95200600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:95195200-95217400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:95195400-95199200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr5:95195400-95199200	Enhancers	NHEK	skin
25	chr5:95195400-95201600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:95195600-95198800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:95195600-95198800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr5:95195600-95199000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:95195600-95199000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:95195600-95206200	Weak transcription	Brain Anterior Caudate	brain
31	chr5:95195800-95197800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:95195800-95198000	Weak transcription	Aorta	Aorta
33	chr5:95195800-95198400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:95195800-95199000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:95195800-95199000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:95195800-95199600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:95195800-95201000	Weak transcription	Brain Substantia Nigra	brain
38	chr5:95195800-95201200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr5:95195800-95201200	Enhancers	NHLF	lung
40	chr5:95196000-95197400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:95196000-95198800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:95196000-95198800	Weak transcription	Esophagus	oesophagus
43	chr5:95196000-95199000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr5:95196200-95197400	Enhancers	NH-A	brain
45	chr5:95196200-95197600	Weak transcription	HMEC	breast
46	chr5:95196200-95198600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:95196400-95197400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:95196400-95197400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:95196600-95197800	Enhancers	Primary hematopoietic stem cells	blood
50	chr5:95196600-95197800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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