Variant report

Variant	rs6859944
Chromosome Location	chr5:178451224-178451225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr5:178450504-178451310	MCF-7	breast:	n/a	n/a
2	TBP	chr5:178450520-178451232	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr5:178450534-178451268	K562	blood:	n/a	chr5:178450797-178450806 chr5:178450879-178450888
4	POLR2A	chr5:178450505-178451277	PANC-1	pancreas:	n/a	n/a
5	MAX	chr5:178450506-178451377	A549	lung:	n/a	n/a
6	POLR2A	chr5:178450472-178451319	PANC-1	pancreas:	n/a	n/a
7	MAX	chr5:178450414-178451358	HepG2	liver:	n/a	n/a
8	KAP1	chr5:178450468-178451268	U2OS	brain:	n/a	n/a
9	MAX	chr5:178450499-178451251	K562	blood:	n/a	n/a
10	POLR2A	chr5:178450292-178451382	HUVEC	blood vessel:	n/a	n/a
11	NRF1	chr5:178450420-178451380	SK-N-SH	brain:	n/a	chr5:178450796-178450810 chr5:178450796-178450805 chr5:178450796-178450807 chr5:178450793-178450807 chr5:178450795-178450806
12	MXI1	chr5:178449978-178451531	SK-N-SH	brain:	n/a	n/a
13	E2F6	chr5:178450437-178451412	H1-hESC	embryonic stem cell:	n/a	chr5:178450797-178450806 chr5:178450879-178450888
14	POLR2A	chr5:178450434-178451304	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr5:178450529-178451257	K562	blood:	n/a	n/a
16	POLR2A	chr5:178450558-178451290	ProgFib	skin:	n/a	n/a
17	SIN3A	chr5:178450513-178451288	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr5:178450408-178451321	MCF-7	breast:	n/a	n/a
19	TAF1	chr5:178450436-178451269	H1-hESC	embryonic stem cell:	n/a	n/a
20	E2F6	chr5:178450568-178451291	A549	lung:	n/a	chr5:178450797-178450806 chr5:178450879-178450888
21	E2F6	chr5:178450433-178451398	A549	lung:	n/a	chr5:178450797-178450806 chr5:178450879-178450888
22	MAX	chr5:178450423-178451416	A549	lung:	n/a	n/a
23	E2F6	chr5:178450552-178451312	H1-hESC	embryonic stem cell:	n/a	chr5:178450797-178450806 chr5:178450879-178450888
24	POLR2A	chr5:178450492-178451277	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr5:178450443-178451309	HepG2	liver:	n/a	n/a
26	MAX	chr5:178450493-178451240	HepG2	liver:	n/a	n/a
27	MXI1	chr5:178450633-178451380	H1-hESC	embryonic stem cell:	n/a	n/a
28	TCF7L2	chr5:178450558-178451299	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr5:178450531-178451226	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAZ	chr5:178450467-178451362	IMR90	lung:	n/a	n/a
31	REST	chr5:178450415-178451346	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr5:178450438-178451270	HUVEC	blood vessel:	n/a	n/a
33	MAX	chr5:178450477-178451297	H1-hESC	embryonic stem cell:	n/a	n/a
34	SETDB1	chr5:178450477-178451484	U2OS	brain:	n/a	chr5:178450722-178450746 chr5:178450797-178450806

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178451176-178451226	HEK293	kidney:	embryo
2	chr5:178451176-178451226	HUVEC	blood vessel:	n/a
3	chr5:178451176-178451226	HCPEpiC	choroid plexus:	n/a
4	chr5:178451176-178451226	PANC-1	pancreas:	n/a
5	chr5:178451176-178451226	MCF-7	breast:	n/a
6	chr5:178451176-178451226	HAEpiC	amniotic membrane:	n/a
7	chr5:178451176-178451226	HRPEpiC	eye:	n/a
8	chr5:178451176-178451226	SK-N-MC	brain:	n/a
9	chr5:178451176-178451226	IMR90	lung:	fetal
10	chr5:178451176-178451226	A549	lung:	n/a
11	chr5:178451176-178451226	AoSMC	blood vessel:	n/a
12	chr5:178451176-178451226	ovcar-3	ovarian:	n/a
13	chr5:178451176-178451226	PrEC	prostate:	n/a
14	chr5:178451176-178451226	NHBE	bronchial:	n/a
15	chr5:178451176-178451226	Hepatocyte	liver:	n/a
16	chr5:178451176-178451226	AG04450	lung:	fetal
17	chr5:178451176-178451226	HIPEpiC	eye:	n/a
18	chr5:178451176-178451226	SAEC	small airway:	n/a
19	chr5:178451176-178451226	GM12891	blood:	n/a
20	chr5:178451176-178451226	GM19239	blood:	n/a
21	chr5:178451176-178451226	NB4	blood:	n/a
22	chr5:178451176-178451226	AG09319	gingival:	n/a
23	chr5:178451176-178451226	HRE	kidney:	n/a
24	chr5:178451176-178451226	CMK	blood:	n/a
25	chr5:178451176-178451226	SK-N-SH_RA	brain:	n/a
26	chr5:178451176-178451226	GM06990	blood:	n/a
27	chr5:178451176-178451226	HepG2	liver:	n/a
28	chr5:178451176-178451226	MCF10A-Er-Src	breast:	n/a
29	chr5:178451176-178451226	BE2_C	brain:	n/a
30	chr5:178451176-178451226	BJ	skin:	n/a
31	chr5:178451176-178451226	HL-60	blood:	n/a
32	chr5:178451176-178451226	T-47D	breast:	n/a
33	chr5:178451176-178451226	HCM	heart:	n/a
34	chr5:178451176-178451226	U87	brain:	n/a
35	chr5:178451176-178451226	HCF	heart:	n/a
36	chr5:178451176-178451226	RPTEC	kidney:	n/a
37	chr5:178451176-178451226	LNCaP	prostate:	n/a
38	chr5:178451176-178451226	AG10803	skin:	n/a
39	chr5:178451176-178451226	AG09309	skin:	n/a
40	chr5:178451176-178451226	H1-hESC	embryonic stem cell:	embryo
41	chr5:178451176-178451226	SKMC	muscle:	n/a
42	chr5:178451176-178451226	Hela-S3	cervix:	n/a
43	chr5:178451176-178451226	ECC-1	luminal epithelium:	n/a
44	chr5:178451176-178451226	GM12878	blood:	n/a
45	chr5:178451176-178451226	Jurkat	blood:	n/a
46	chr5:178451176-178451226	HRCEpiC	kidney:	n/a
47	chr5:178451176-178451226	HCT-116	colon:	n/a
48	chr5:178451176-178451226	NT2-D1	testis:	n/a
49	chr5:178451176-178451226	NHDF-neo	bronchial:	n/a
50	chr5:178451176-178451226	Caco-2	colon:	n/a

No data

Variant related genes	Relation type
ZNF879	TF binding region
ZNF879	CpG island

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10058386	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10479437	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3932173	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4105175	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4701026	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62393079	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6601006	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7712903	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7717952	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883219	chr5:178390237-178454118	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv883220	chr5:178394717-178454118	ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv883221	chr5:178410538-178454118	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1024560	chr5:178415364-178917595	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv537975	chr5:178415364-178917595	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv1033597	chr5:178423101-178752095	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1018650	chr5:178428743-178515196	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv1024994	chr5:178429975-178505167	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1025616	chr5:178429975-178515196	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv1026351	chr5:178429975-178535309	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv1031829	chr5:178442633-178658706	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178449600-178451600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:178449800-178451400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:178449800-178451400	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr5:178449800-178451600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:178449800-178451600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr5:178449800-178451600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:178449800-178451600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr5:178449800-178451800	Active TSS	HMEC	breast
9	chr5:178449800-178452000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:178449800-178452000	Active TSS	Psoas Muscle	Psoas
11	chr5:178450000-178451400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:178450000-178451600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:178450000-178451600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr5:178450000-178451600	Active TSS	Fetal Stomach	stomach
15	chr5:178450000-178451600	Active TSS	Right Atrium	heart
16	chr5:178450000-178451800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr5:178450000-178452200	Active TSS	Duodenum Mucosa	Duodenum
18	chr5:178450000-178452200	Active TSS	Fetal Kidney	kidney
19	chr5:178450200-178451400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:178450200-178451400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:178450200-178451400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:178450200-178451400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:178450200-178451400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:178450200-178451400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr5:178450200-178451400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr5:178450200-178451400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:178450200-178451400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:178450200-178451400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:178450200-178451400	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr5:178450200-178451400	Active TSS	Brain Angular Gyrus	brain
31	chr5:178450200-178451400	Active TSS	Brain Hippocampus Middle	brain
32	chr5:178450200-178451400	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr5:178450200-178451400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:178450200-178451400	Active TSS	Colon Smooth Muscle	Colon
35	chr5:178450200-178451400	Active TSS	Fetal Brain Male	brain
36	chr5:178450200-178451400	Active TSS	Fetal Intestine Small	intestine
37	chr5:178450200-178451400	Active TSS	Fetal Lung	lung
38	chr5:178450200-178451400	Active TSS	Placenta	Placenta
39	chr5:178450200-178451400	Active TSS	Left Ventricle	heart
40	chr5:178450200-178451400	Active TSS	Pancreas	Pancrea
41	chr5:178450200-178451400	Active TSS	Rectal Smooth Muscle	rectum
42	chr5:178450200-178451400	Active TSS	Stomach Smooth Muscle	stomach
43	chr5:178450200-178451600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:178450200-178451600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:178450200-178451600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:178450200-178451600	Active TSS	Muscle Satellite Cultured Cells	--
47	chr5:178450200-178451600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:178450200-178451600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:178450200-178451600	Active TSS	Aorta	Aorta
50	chr5:178450200-178451600	Active TSS	Brain Cingulate Gyrus	brain

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