Variant report

Variant	rs4801175
Chromosome Location	chr19:57078219-57078220
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr19:57078013-57079833	IMR90	lung:	n/a	chr19:57078881-57078896
2	MAZ	chr19:57078097-57079602	IMR90	lung:	n/a	n/a
3	MAX	chr19:57078168-57079577	A549	lung:	n/a	n/a
4	POLR2A	chr19:57078136-57079264	H1-neurons	neurons:	n/a	n/a
5	RFX5	chr19:57077911-57079575	SK-N-SH	brain:	n/a	n/a
6	ELF1	chr19:57078218-57079535	GM12878	blood:	n/a	chr19:57078836-57078847 chr19:57079127-57079136
7	SETDB1	chr19:57077859-57078291	U2OS	brain:	n/a	n/a
8	REST	chr19:57078102-57079415	H1-neurons	neurons:	n/a	chr19:57079336-57079356
9	MXI1	chr19:57077594-57079782	SK-N-SH	brain:	n/a	chr19:57078881-57078896

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:57078173-57078223	HepG2	liver:	n/a
2	chr19:57078173-57078223	AoSMC	blood vessel:	n/a
3	chr19:57078173-57078223	HIPEpiC	eye:	n/a
4	chr19:57078173-57078223	HPAEpiC	pulmonary alveolar:	n/a
5	chr19:57078173-57078223	Jurkat	blood:	n/a
6	chr19:57078173-57078223	HRE	kidney:	n/a
7	chr19:57078173-57078223	NH-A	brain:	n/a
8	chr19:57078173-57078223	GM06990	blood:	n/a
9	chr19:57078173-57078223	NT2-D1	testis:	n/a
10	chr19:57078173-57078223	BJ	skin:	n/a
11	chr19:57078173-57078223	HNPCEpiC	eye:	n/a
12	chr19:57078173-57078223	SK-N-SH_RA	brain:	n/a
13	chr19:57078173-57078223	K562	blood:	n/a
14	chr19:57078173-57078223	GM12892	blood:	n/a
15	chr19:57078173-57078223	Hela-S3	cervix:	n/a
16	chr19:57078173-57078223	SKMC	muscle:	n/a
17	chr19:57078173-57078223	HCF	heart:	n/a
18	chr19:57078173-57078223	LNCaP	prostate:	n/a
19	chr19:57078173-57078223	MCF-7	breast:	n/a
20	chr19:57078173-57078223	H1-hESC	embryonic stem cell:	embryo
21	chr19:57078173-57078223	GM19239	blood:	n/a
22	chr19:57078173-57078223	SAEC	small airway:	n/a
23	chr19:57078173-57078223	SK-N-MC	brain:	n/a
24	chr19:57078173-57078223	PANC-1	pancreas:	n/a
25	chr19:57078173-57078223	AG09309	skin:	n/a
26	chr19:57078173-57078223	GM12891	blood:	n/a
27	chr19:57078173-57078223	AG04449	skin:	fetal
28	chr19:57078173-57078223	ECC-1	luminal epithelium:	n/a
29	chr19:57078173-57078223	BE2_C	brain:	n/a
30	chr19:57078173-57078223	PFSK-1	brain:	n/a
31	chr19:57078173-57078223	AG04450	lung:	fetal
32	chr19:57078173-57078223	HRPEpiC	eye:	n/a
33	chr19:57078173-57078223	HCPEpiC	choroid plexus:	n/a
34	chr19:57078173-57078223	HMEC	breast:	n/a
35	chr19:57078173-57078223	MCF10A-Er-Src	breast:	n/a
36	chr19:57078173-57078223	HCM	heart:	n/a
37	chr19:57078173-57078223	HCT-116	colon:	n/a
38	chr19:57078173-57078223	NHBE	bronchial:	n/a
39	chr19:57078173-57078223	ProgFib	skin:	n/a
40	chr19:57078173-57078223	HEEpiC	esophagus:	n/a
41	chr19:57078173-57078223	NB4	blood:	n/a
42	chr19:57078173-57078223	SK-N-SH	brain:	n/a
43	chr19:57078173-57078223	HRCEpiC	kidney:	n/a
44	chr19:57078173-57078223	HEK293	kidney:	embryo
45	chr19:57078173-57078223	NHDF-neo	bronchial:	n/a
46	chr19:57078173-57078223	PrEC	prostate:	n/a
47	chr19:57078173-57078223	A549	lung:	n/a
48	chr19:57078173-57078223	HUVEC	blood vessel:	n/a
49	chr19:57078173-57078223	HL-60	blood:	n/a
50	chr19:57078173-57078223	CMK	blood:	n/a

No data

Variant related genes	Relation type
ZNF470	TF binding region
ZNF470	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10405563	0.85[ASN][1000 genomes]
rs10413682	0.86[CHB][hapmap]
rs3752179	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.87[ASN][1000 genomes]
rs4801338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108667	0.81[CHB][hapmap]
rs9916991	0.85[ASN][1000 genomes]
rs9917082	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.91[MEX][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv1057240	chr19:56919831-57153659	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv544097	chr19:56919831-57153659	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1055357	chr19:56933632-57190007	ZNF genes & repeats Strong transcription Active TSS Enhancers Weak transcription Flanking 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 lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv912518	chr19:56995737-57109821	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv1062806	chr19:57050734-57191914	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:57076800-57078400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr19:57077400-57078600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr19:57077400-57079000	Active TSS	Primary T cells from cord blood	blood
4	chr19:57077400-57079200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr19:57077400-57079400	Active TSS	Brain Anterior Caudate	brain
6	chr19:57077400-57079400	Active TSS	Brain Hippocampus Middle	brain
7	chr19:57077400-57080000	ZNF genes & repeats	GM12878-XiMat	blood
8	chr19:57077600-57078400	ZNF genes & repeats	A549	lung
9	chr19:57077600-57079200	Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr19:57077600-57079600	Active TSS	Aorta	Aorta
11	chr19:57077600-57079800	Active TSS	Rectal Smooth Muscle	rectum
12	chr19:57077600-57082600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:57077800-57078400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:57077800-57078400	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr19:57077800-57078400	Flanking Active TSS	Liver	Liver
16	chr19:57077800-57078400	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr19:57077800-57078400	Flanking Active TSS	Dnd41	blood
18	chr19:57077800-57078600	ZNF genes & repeats	Colonic Mucosa	Colon
19	chr19:57077800-57079200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:57077800-57079200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:57077800-57079200	Active TSS	Left Ventricle	heart
22	chr19:57077800-57079200	Active TSS	Stomach Mucosa	stomach
23	chr19:57077800-57079200	Active TSS	Stomach Smooth Muscle	stomach
24	chr19:57077800-57079400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr19:57077800-57079400	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr19:57077800-57079400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:57077800-57079400	Active TSS	Right Atrium	heart
28	chr19:57077800-57079400	Active TSS	Osteobl	bone
29	chr19:57077800-57079800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr19:57077800-57079800	Active TSS	Psoas Muscle	Psoas
31	chr19:57077800-57080000	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr19:57078000-57078400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
33	chr19:57078000-57078400	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr19:57078000-57078400	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr19:57078000-57078400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr19:57078000-57078400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr19:57078000-57078400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:57078000-57078400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:57078000-57078400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr19:57078000-57078400	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr19:57078000-57078400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr19:57078000-57078400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr19:57078000-57078600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr19:57078000-57078600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr19:57078000-57078600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr19:57078000-57078600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:57078000-57078600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:57078000-57078600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:57078000-57078800	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr19:57078000-57079000	Active TSS	Fetal Brain Male	brain

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