Variant report

Variant	rs12513296
Chromosome Location	chr4:8418148-8418149
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8418132-8418182	GM19239	blood:	n/a
2	chr4:8418132-8418182	HIPEpiC	eye:	n/a
3	chr4:8418132-8418182	AG09309	skin:	n/a
4	chr4:8418132-8418182	NHBE	bronchial:	n/a
5	chr4:8418132-8418182	H1-hESC	embryonic stem cell:	embryo
6	chr4:8418132-8418182	BE2_C	brain:	n/a
7	chr4:8418132-8418182	Caco-2	colon:	n/a
8	chr4:8418132-8418182	PANC-1	pancreas:	n/a
9	chr4:8418132-8418182	K562	blood:	n/a
10	chr4:8418132-8418182	HRE	kidney:	n/a
11	chr4:8418132-8418182	GM06990	blood:	n/a
12	chr4:8418132-8418182	NHDF-neo	bronchial:	n/a
13	chr4:8418132-8418182	SK-N-MC	brain:	n/a
14	chr4:8418132-8418182	SK-N-SH	brain:	n/a
15	chr4:8418132-8418182	MCF10A-Er-Src	breast:	n/a
16	chr4:8418132-8418182	HRPEpiC	eye:	n/a
17	chr4:8418132-8418182	ProgFib	skin:	n/a
18	chr4:8418132-8418182	HepG2	liver:	n/a
19	chr4:8418132-8418182	HMEC	breast:	n/a
20	chr4:8418132-8418182	PFSK-1	brain:	n/a
21	chr4:8418132-8418182	HEK293	kidney:	embryo
22	chr4:8418132-8418182	Hepatocyte	liver:	n/a
23	chr4:8418132-8418182	GM12878	blood:	n/a
24	chr4:8418132-8418182	SKMC	muscle:	n/a
25	chr4:8418132-8418182	ECC-1	luminal epithelium:	n/a
26	chr4:8418132-8418182	AG04449	skin:	fetal
27	chr4:8418132-8418182	CMK	blood:	n/a
28	chr4:8418132-8418182	AG04450	lung:	fetal
29	chr4:8418132-8418182	MCF-7	breast:	n/a
30	chr4:8418132-8418182	HCT-116	colon:	n/a
31	chr4:8418132-8418182	NT2-D1	testis:	n/a
32	chr4:8418132-8418182	Jurkat	blood:	n/a
33	chr4:8418132-8418182	SAEC	small airway:	n/a
34	chr4:8418132-8418182	T-47D	breast:	n/a
35	chr4:8418132-8418182	HCPEpiC	choroid plexus:	n/a
36	chr4:8418132-8418182	AG10803	skin:	n/a
37	chr4:8418132-8418182	RPTEC	kidney:	n/a
38	chr4:8418132-8418182	NB4	blood:	n/a
39	chr4:8418132-8418182	HNPCEpiC	eye:	n/a
40	chr4:8418132-8418182	AoSMC	blood vessel:	n/a
41	chr4:8418132-8418182	U87	brain:	n/a
42	chr4:8418132-8418182	IMR90	lung:	fetal
43	chr4:8418132-8418182	A549	lung:	n/a
44	chr4:8418132-8418182	GM12891	blood:	n/a
45	chr4:8418132-8418182	BJ	skin:	n/a
46	chr4:8418132-8418182	SK-N-SH_RA	brain:	n/a
47	chr4:8418132-8418182	ovcar-3	ovarian:	n/a
48	chr4:8418132-8418182	HL-60	blood:	n/a
49	chr4:8418132-8418182	HAEpiC	amniotic membrane:	n/a
50	chr4:8418132-8418182	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8416707..8419298-chr4:8428396..8430193,3	MCF-7	breast:

No data

Variant related genes	Relation type
ACOX3	CpG island
ENSG00000087008	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10003554	1.00[ASN][1000 genomes]
rs10516192	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933361	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938744	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12108233	0.89[EUR][1000 genomes]
rs12108264	0.89[EUR][1000 genomes]
rs12108299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498220	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12498652	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12498856	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12499366	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12499931	1.00[AMR][1000 genomes]
rs12500106	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500186	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500188	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501889	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12503080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504157	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12504328	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504709	1.00[ASN][1000 genomes]
rs12504813	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12506272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506429	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506703	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509044	1.00[ASN][1000 genomes]
rs12509545	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511417	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511591	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512044	1.00[ASN][1000 genomes]
rs12513048	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16842284	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842305	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842315	1.00[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842316	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2386224	1.00[ASN][1000 genomes]
rs2386225	1.00[ASN][1000 genomes]
rs34873641	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41264711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55856487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57229672	1.00[ASN][1000 genomes]
rs59670959	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59872851	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62286004	1.00[ASN][1000 genomes]
rs6447869	1.00[ASN][1000 genomes]
rs66675498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66794792	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67332046	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67496006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67901119	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813671	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814866	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6849528	1.00[ASN][1000 genomes]
rs73209462	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73209465	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73209470	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73209473	1.00[ASN][1000 genomes]
rs73209478	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73209480	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73209481	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73209482	1.00[AMR][1000 genomes]
rs73209488	1.00[ASN][1000 genomes]
rs73209489	1.00[ASN][1000 genomes]
rs73209502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73211306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73211309	1.00[ASN][1000 genomes]
rs73211315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211334	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73211338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211351	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73211354	0.89[EUR][1000 genomes]
rs73211357	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211359	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211365	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211368	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211373	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211375	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211378	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211388	1.00[EUR][1000 genomes]
rs73211394	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211401	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213404	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213405	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213406	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213408	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213409	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213410	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213414	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213420	1.00[EUR][1000 genomes]
rs73213426	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223242	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223246	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223250	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223256	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223257	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223259	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223264	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223266	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223271	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223275	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686550	1.00[ASN][1000 genomes]
rs9761200	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv470014	chr4:8390646-8429817	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv593639	chr4:8394376-8424108	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8383800-8419000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:8384800-8418600	Strong transcription	Primary T cells from cord blood	blood
3	chr4:8396600-8419400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:8397600-8420400	Weak transcription	NHDF-Ad	bronchial
5	chr4:8399600-8429400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:8403200-8419400	Strong transcription	Fetal Intestine Small	intestine
7	chr4:8404600-8429400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:8404800-8420600	Weak transcription	Psoas Muscle	Psoas
9	chr4:8405400-8418400	Strong transcription	Brain Hippocampus Middle	brain
10	chr4:8405600-8418600	Strong transcription	Liver	Liver
11	chr4:8405600-8418800	Strong transcription	Aorta	Aorta
12	chr4:8406600-8418800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:8407800-8419200	Weak transcription	Fetal Thymus	thymus
14	chr4:8408800-8422400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:8409400-8418400	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:8410400-8418600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:8411000-8419000	Strong transcription	Pancreas	Pancrea
18	chr4:8411800-8418800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:8412200-8418200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:8412400-8418200	Strong transcription	Duodenum Mucosa	Duodenum
21	chr4:8412400-8418400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:8412400-8418800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:8412400-8421000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr4:8412600-8418200	Strong transcription	Adipose Nuclei	Adipose
25	chr4:8412800-8418200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:8412800-8418200	Strong transcription	Ovary	ovary
27	chr4:8412800-8418600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:8412800-8418600	Strong transcription	Brain Germinal Matrix	brain
29	chr4:8412800-8418600	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:8412800-8418800	Strong transcription	Stomach Smooth Muscle	stomach
31	chr4:8412800-8418800	Strong transcription	Spleen	Spleen
32	chr4:8412800-8420600	Weak transcription	K562	blood
33	chr4:8412800-8425600	Weak transcription	Fetal Heart	heart
34	chr4:8413000-8418200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:8413000-8418200	Strong transcription	Right Ventricle	heart
36	chr4:8413000-8418600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:8413000-8418600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:8413000-8418800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:8413000-8419000	Strong transcription	Fetal Brain Female	brain
40	chr4:8413000-8419200	Strong transcription	Fetal Intestine Large	intestine
41	chr4:8413000-8419400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:8413000-8419400	Strong transcription	Fetal Stomach	stomach
43	chr4:8413000-8423400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:8413400-8418200	Strong transcription	Thymus	Thymus
45	chr4:8413400-8418600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:8413400-8418800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr4:8413600-8418200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr4:8413600-8418800	Strong transcription	Brain Cingulate Gyrus	brain
49	chr4:8413600-8418800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr4:8414000-8418200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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