Variant report

Variant	rs10071939
Chromosome Location	chr5:128300737-128300738
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr5:128300684-128301324	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYC	chr5:128300599-128301350	NB4	blood:	n/a	n/a
3	UBTF	chr5:128300737-128301125	K562	blood:	n/a	n/a
4	TAF1	chr5:128300583-128301090	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr5:128300681-128300999	K562	blood:	n/a	chr5:128300707-128300716 chr5:128300899-128300908
6	TCF12	chr5:128300691-128301266	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr5:128300557-128301260	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr5:128300610-128301246	ECC-1	luminal epithelium:	n/a	n/a
9	ZBTB7A	chr5:128300667-128300801	K562	blood:	n/a	chr5:128300700-128300708
10	POLR2A	chr5:128300674-128301092	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr5:128300631-128301392	MCF-7	breast:	n/a	n/a
12	RCOR1	chr5:128300692-128301671	K562	blood:	n/a	n/a
13	MYC	chr5:128300690-128301070	K562	blood:	n/a	n/a
14	CTBP2	chr5:128300701-128302462	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr5:128300713-128301222	NB4	blood:	n/a	n/a
16	SIN3A	chr5:128300675-128301610	H1-hESC	embryonic stem cell:	n/a	chr5:128300893-128300906
17	MXI1	chr5:128300150-128301590	SK-N-SH	brain:	n/a	n/a
18	UBTF	chr5:128300737-128301025	K562	blood:	n/a	n/a
19	KAP1	chr5:128300733-128301462	HEK293	kidney:	n/a	n/a
20	MAX	chr5:128300512-128301266	ECC-1	luminal epithelium:	n/a	n/a
21	ZBTB7A	chr5:128300693-128301438	ECC-1	luminal epithelium:	n/a	chr5:128300700-128300708
22	CTCF	chr5:128300700-128300850	BE2_C	brain:	n/a	n/a
23	TEAD4	chr5:128300642-128301024	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr5:128300662-128301361	HCT-116	colon:	n/a	n/a
25	HMGN3	chr5:128300683-128300998	K562	blood:	n/a	n/a
26	POLR2A	chr5:128300632-128301382	HCT-116	colon:	n/a	n/a
27	BACH1	chr5:128300727-128301390	H1-hESC	embryonic stem cell:	n/a	n/a
28	ZNF263	chr5:128300640-128302203	HEK293-T-REx	kidney:	n/a	chr5:128300888-128300897 chr5:128300824-128300833
29	MAX	chr5:128300683-128301174	K562	blood:	n/a	n/a
30	MYC	chr5:128300645-128301105	K562	blood:	n/a	n/a
31	HA-E2F1	chr5:128300602-128301573	MCF-7	breast:	n/a	chr5:128301323-128301335 chr5:128301327-128301334 chr5:128300707-128300716 chr5:128300899-128300908 chr5:128301327-128301334 chr5:128301327-128301334
32	MAX	chr5:128300700-128301108	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:128300696-128300746	HCT-116	colon:	n/a
2	chr5:128300708-128300758	HAEpiC	amniotic membrane:	n/a
3	chr5:128300696-128300746	GM06990	blood:	n/a
4	chr5:128300708-128300758	GM12891	blood:	n/a
5	chr5:128300696-128300746	HepG2	liver:	n/a
6	chr5:128300708-128300758	HUVEC	blood vessel:	n/a
7	chr5:128300696-128300746	HCF	heart:	n/a
8	chr5:128300708-128300758	NHDF-neo	bronchial:	n/a
9	chr5:128300708-128300758	K562	blood:	n/a
10	chr5:128300696-128300746	HCM	heart:	n/a
11	chr5:128300696-128300746	AG10803	skin:	n/a
12	chr5:128300696-128300746	NHBE	bronchial:	n/a
13	chr5:128300696-128300746	K562	blood:	n/a
14	chr5:128300696-128300746	NHDF-neo	bronchial:	n/a
15	chr5:128300696-128300746	MCF10A-Er-Src	breast:	n/a
16	chr5:128300708-128300758	ProgFib	skin:	n/a
17	chr5:128300696-128300746	Hepatocyte	liver:	n/a
18	chr5:128300708-128300758	AG09319	gingival:	n/a
19	chr5:128300696-128300746	SKMC	muscle:	n/a
20	chr5:128300708-128300758	HepG2	liver:	n/a
21	chr5:128300708-128300758	PANC-1	pancreas:	n/a
22	chr5:128300696-128300746	IMR90	lung:	fetal
23	chr5:128300708-128300758	Caco-2	colon:	n/a
24	chr5:128300696-128300746	NT2-D1	testis:	n/a
25	chr5:128300708-128300758	GM06990	blood:	n/a
26	chr5:128300696-128300746	NB4	blood:	n/a
27	chr5:128300696-128300746	ECC-1	luminal epithelium:	n/a
28	chr5:128300708-128300758	MCF10A-Er-Src	breast:	n/a
29	chr5:128300708-128300758	SKMC	muscle:	n/a
30	chr5:128300696-128300746	HEK293	kidney:	embryo
31	chr5:128300696-128300746	AG09309	skin:	n/a
32	chr5:128300696-128300746	NH-A	brain:	n/a
33	chr5:128300696-128300746	HRCEpiC	kidney:	n/a
34	chr5:128300696-128300746	HPAEpiC	pulmonary alveolar:	n/a
35	chr5:128300708-128300758	H1-hESC	embryonic stem cell:	embryo
36	chr5:128300708-128300758	HEEpiC	esophagus:	n/a
37	chr5:128300708-128300758	T-47D	breast:	n/a
38	chr5:128300696-128300746	Jurkat	blood:	n/a
39	chr5:128300696-128300746	GM12878	blood:	n/a
40	chr5:128300696-128300746	HUVEC	blood vessel:	n/a
41	chr5:128300708-128300758	BE2_C	brain:	n/a
42	chr5:128300708-128300758	SK-N-SH	brain:	n/a
43	chr5:128300708-128300758	SK-N-MC	brain:	n/a
44	chr5:128300696-128300746	HL-60	blood:	n/a
45	chr5:128300708-128300758	ovcar-3	ovarian:	n/a
46	chr5:128300696-128300746	SK-N-SH	brain:	n/a
47	chr5:128300708-128300758	Hela-S3	cervix:	n/a
48	chr5:128300708-128300758	SK-N-SH_RA	brain:	n/a
49	chr5:128300696-128300746	A549	lung:	n/a
50	chr5:128300708-128300758	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:128299750..128303179-chr5:128428591..128431385,3	MCF-7	breast:

No data

Variant related genes	Relation type
SLC27A6	TF binding region
SLC27A6	CpG island
ENSG00000066583	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10036270	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10038006	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10040181	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10052566	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10072638	0.81[AMR][1000 genomes]
rs10477690	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478827	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740497	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11742560	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11743701	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11749027	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13156417	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13359335	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13436689	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1421889	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17163702	1.00[JPT][hapmap]
rs17617241	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17617329	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17679250	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28548714	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35791995	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3851463	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3886286	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3886288	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6595867	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6859805	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6863819	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6867677	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873224	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873372	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6877556	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6880855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6889473	1.00[JPT][hapmap]
rs71587995	0.81[AMR][1000 genomes]
rs7725037	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7730969	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7735034	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9285913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327500	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327503	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9686953	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][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	nsv882839	chr5:128205828-128390167	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv882840	chr5:128205828-128428962	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128300400-128300800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr5:128300400-128300800	Flanking Active TSS	Fetal Heart	heart
3	chr5:128300400-128301200	Active TSS	Primary hematopoietic stem cells	blood
4	chr5:128300400-128301400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:128300400-128301600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:128300400-128301600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr5:128300400-128301600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:128300400-128301800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:128300400-128301800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:128300400-128301800	Active TSS	Brain Substantia Nigra	brain
11	chr5:128300400-128301800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr5:128300400-128302000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr5:128300400-128302000	Active TSS	K562	blood
14	chr5:128300400-128302200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr5:128300400-128302200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr5:128300400-128302200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr5:128300400-128302200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr5:128300600-128300800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:128300600-128300800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:128300600-128300800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:128300600-128300800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr5:128300600-128300800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
23	chr5:128300600-128300800	Flanking Bivalent TSS/Enh	NHEK	skin
24	chr5:128300600-128301000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr5:128300600-128301000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:128300600-128301000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:128300600-128301000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:128300600-128301000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
29	chr5:128300600-128301000	Flanking Active TSS	Esophagus	oesophagus
30	chr5:128300600-128301000	Flanking Active TSS	Placenta	Placenta
31	chr5:128300600-128301000	Flanking Active TSS	HMEC	breast
32	chr5:128300600-128301000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
33	chr5:128300600-128301200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr5:128300600-128301200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:128300600-128301200	Active TSS	H9 Cell Line	embryonic stem cell
36	chr5:128300600-128301200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:128300600-128301200	Active TSS	Adipose Nuclei	Adipose
38	chr5:128300600-128301200	Active TSS	Brain Anterior Caudate	brain
39	chr5:128300600-128301200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
40	chr5:128300600-128301200	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr5:128300600-128301200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
42	chr5:128300600-128301400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:128300600-128301400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:128300600-128301400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
45	chr5:128300600-128301400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
46	chr5:128300600-128301400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:128300600-128301400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:128300600-128301400	Active TSS	Brain Angular Gyrus	brain
49	chr5:128300600-128301400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr5:128300600-128301400	Bivalent Enhancer	Fetal Brain Male	brain

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