Variant report

Variant	rs34583117
Chromosome Location	chr3:138312667-138312668
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:138312502-138313785	K562	blood:	n/a	n/a
2	POLR2A	chr3:138312667-138313812	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr3:138312486-138313545	H1-hESC	embryonic stem cell:	n/a	n/a
4	HEY1	chr3:138312445-138313774	K562	blood:	n/a	n/a
5	TAF7	chr3:138312510-138313465	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr3:138312537-138313936	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr3:138312553-138313837	GM18951	blood:	n/a	n/a
8	REST	chr3:138312370-138314124	H1-neurons	neurons:	n/a	n/a
9	MAZ	chr3:138312377-138314041	IMR90	lung:	n/a	chr3:138313244-138313254
10	FOXM1	chr3:138312613-138314067	ECC-1	luminal epithelium:	n/a	n/a
11	ZNF384	chr3:138312656-138313194	GM12878	blood:	n/a	n/a
12	TBP	chr3:138312599-138313959	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr3:138312363-138314205	SK-N-SH	brain:	n/a	chr3:138313247-138313260 chr3:138312568-138312581
14	ATF2	chr3:138312575-138313137	H1-hESC	embryonic stem cell:	n/a	chr3:138313097-138313108
15	POLR2A	chr3:138312655-138313596	U87	brain:	n/a	n/a
16	POLR2A	chr3:138312548-138314030	HepG2	liver:	n/a	n/a
17	FOXA1	chr3:138312560-138313442	T-47D	breast:	n/a	n/a
18	HA-E2F1	chr3:138312452-138313727	MCF-7	breast:	n/a	chr3:138313271-138313280 chr3:138313109-138313118 chr3:138313146-138313155
19	CHD2	chr3:138312612-138313897	GM12878	blood:	n/a	n/a
20	NRF1	chr3:138312636-138312714	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:138312539-138313775	HCT-116	colon:	n/a	n/a
22	SMC3	chr3:138312350-138314131	SK-N-SH	brain:	n/a	chr3:138312568-138312582 chr3:138313442-138313449
23	POLR2A	chr3:138312580-138313918	PANC-1	pancreas:	n/a	n/a
24	TCF12	chr3:138312603-138313598	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr3:138312366-138313823	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr3:138312529-138313873	GM12878	blood:	n/a	n/a
27	FOXA1	chr3:138312509-138312950	T-47D	breast:	n/a	n/a
28	MXI1	chr3:138312464-138314167	IMR90	lung:	n/a	n/a
29	TCF7L2	chr3:138312641-138313803	HCT-116	colon:	n/a	n/a
30	POLR2A	chr3:138312661-138313596	U87	brain:	n/a	n/a
31	SIN3AK20	chr3:138312264-138313873	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr3:138312442-138312720	K562	blood:	n/a	n/a
33	RCOR1	chr3:138312541-138313948	K562	blood:	n/a	n/a
34	POLR2A	chr3:138312623-138313849	MCF-7	breast:	n/a	n/a
35	MXI1	chr3:138312586-138313834	H1-hESC	embryonic stem cell:	n/a	n/a
36	SIN3A	chr3:138312376-138313893	H1-hESC	embryonic stem cell:	n/a	n/a
37	UBTF	chr3:138312636-138313805	K562	blood:	n/a	n/a
38	EP300	chr3:138312537-138313363	T-47D	breast:	n/a	n/a
39	RAD21	chr3:138312510-138314153	HCT-116	colon:	n/a	n/a
40	MAX	chr3:138312533-138314156	HCT-116	colon:	n/a	chr3:138313687-138313697 chr3:138313244-138313254
41	NR2F2	chr3:138312295-138313849	K562	blood:	n/a	n/a
42	RAD21	chr3:138312335-138314109	SK-N-SH	brain:	n/a	n/a
43	MYC	chr3:138312559-138312871	MCF10A-Er-Src	breast:	n/a	n/a
44	ZNF143	chr3:138312665-138313892	K562	blood:	n/a	chr3:138313129-138313139
45	KAP1	chr3:138312578-138314095	HEK293	kidney:	n/a	n/a
46	TAF1	chr3:138312389-138313778	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr3:138312662-138313862	IMR90	lung:	n/a	n/a
48	POLR2A	chr3:138312597-138313719	K562	blood:	n/a	n/a
49	ARID3A	chr3:138312595-138313897	HepG2	liver:	n/a	n/a
50	POLR2A	chr3:138312603-138313552	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:138312634-138312684	T-47D	breast:	n/a
2	chr3:138312634-138312684	SK-N-SH_RA	brain:	n/a
3	chr3:138312634-138312684	HMEC	breast:	n/a
4	chr3:138312634-138312684	SAEC	small airway:	n/a
5	chr3:138312634-138312684	BJ	skin:	n/a
6	chr3:138312634-138312684	HPAEpiC	pulmonary alveolar:	n/a
7	chr3:138312634-138312684	NHBE	bronchial:	n/a
8	chr3:138312634-138312684	HAEpiC	amniotic membrane:	n/a
9	chr3:138312634-138312684	AG04450	lung:	fetal
10	chr3:138312634-138312684	HEK293	kidney:	embryo
11	chr3:138312634-138312684	SK-N-MC	brain:	n/a
12	chr3:138312634-138312684	HRE	kidney:	n/a
13	chr3:138312634-138312684	NH-A	brain:	n/a
14	chr3:138312634-138312684	U87	brain:	n/a
15	chr3:138312634-138312684	MCF10A-Er-Src	breast:	n/a
16	chr3:138312634-138312684	AoSMC	blood vessel:	n/a
17	chr3:138312634-138312684	ovcar-3	ovarian:	n/a
18	chr3:138312634-138312684	Hepatocyte	liver:	n/a
19	chr3:138312634-138312684	Caco-2	colon:	n/a
20	chr3:138312634-138312684	HCPEpiC	choroid plexus:	n/a
21	chr3:138312634-138312684	NHDF-neo	bronchial:	n/a
22	chr3:138312634-138312684	HIPEpiC	eye:	n/a
23	chr3:138312634-138312684	HEEpiC	esophagus:	n/a
24	chr3:138312634-138312684	GM12892	blood:	n/a
25	chr3:138312634-138312684	CMK	blood:	n/a
26	chr3:138312634-138312684	GM06990	blood:	n/a
27	chr3:138312634-138312684	HCF	heart:	n/a
28	chr3:138312634-138312684	AG10803	skin:	n/a
29	chr3:138312634-138312684	GM19239	blood:	n/a
30	chr3:138312634-138312684	BE2_C	brain:	n/a
31	chr3:138312634-138312684	NT2-D1	testis:	n/a
32	chr3:138312634-138312684	HCM	heart:	n/a
33	chr3:138312634-138312684	AG04449	skin:	fetal
34	chr3:138312634-138312684	PANC-1	pancreas:	n/a
35	chr3:138312634-138312684	H1-hESC	embryonic stem cell:	embryo
36	chr3:138312634-138312684	HepG2	liver:	n/a
37	chr3:138312634-138312684	HL-60	blood:	n/a
38	chr3:138312634-138312684	Jurkat	blood:	n/a
39	chr3:138312634-138312684	HNPCEpiC	eye:	n/a
40	chr3:138312634-138312684	IMR90	lung:	fetal
41	chr3:138312634-138312684	AG09309	skin:	n/a
42	chr3:138312634-138312684	K562	blood:	n/a
43	chr3:138312634-138312684	HRPEpiC	eye:	n/a
44	chr3:138312634-138312684	RPTEC	kidney:	n/a
45	chr3:138312634-138312684	NB4	blood:	n/a
46	chr3:138312634-138312684	SKMC	muscle:	n/a
47	chr3:138312634-138312684	PFSK-1	brain:	n/a
48	chr3:138312634-138312684	SK-N-SH	brain:	n/a
49	chr3:138312634-138312684	HCT-116	colon:	n/a
50	chr3:138312634-138312684	LNCaP	prostate:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:138309173..138314814-chr3:138323140..138328328,8	K562	blood:
2	chr3:138311550..138315468-chr3:138324471..138329332,12	MCF-7	breast:
3	chr3:138308688..138311077-chr3:138311353..138314105,2	MCF-7	breast:
4	chr3:138310855..138313031-chr3:138326538..138329064,2	K562	blood:

No data

Variant related genes	Relation type
CEP70	TF binding region
CEP70	CpG island
ENSG00000158234	Chromatin interaction
ENSG00000114107	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11916525	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12630144	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12632793	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12632794	0.96[ASN][1000 genomes]
rs12635354	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12635904	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12636936	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12637638	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13059817	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13062423	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13067095	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13067864	0.96[ASN][1000 genomes]
rs13069355	0.96[ASN][1000 genomes]
rs13072751	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13073978	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13077766	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13084780	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13093668	0.96[ASN][1000 genomes]
rs13095122	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13095125	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1563615	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1672928	0.83[ASN][1000 genomes]
rs1672931	0.85[ASN][1000 genomes]
rs1672936	0.84[ASN][1000 genomes]
rs2085446	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2085447	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2280596	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34011134	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34153951	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34284415	0.96[ASN][1000 genomes]
rs34316974	0.96[ASN][1000 genomes]
rs34377792	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34416776	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34482601	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34607531	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34640717	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34652182	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34878008	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35034861	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35269190	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35340237	0.88[ASN][1000 genomes]
rs35489558	0.95[ASN][1000 genomes]
rs35549884	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35597846	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35834585	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35876758	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35906980	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3773748	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs503922	0.80[ASN][1000 genomes]
rs529615	0.80[ASN][1000 genomes]
rs56028542	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56654955	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57516770	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58873565	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59184769	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59371015	0.96[ASN][1000 genomes]
rs60371967	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60426689	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61258082	0.93[ASN][1000 genomes]
rs61662147	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs654528	0.85[ASN][1000 genomes]
rs66775405	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67390774	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67666216	0.88[ASN][1000 genomes]
rs6784770	0.94[ASN][1000 genomes]
rs73229540	0.88[ASN][1000 genomes]
rs773455	0.87[ASN][1000 genomes]
rs9049	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9880928	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv999041	chr3:138148812-138347988	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv3429877	chr3:138272946-138325019	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138310400-138313800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:138311400-138313400	Active TSS	Duodenum Mucosa	Duodenum
3	chr3:138311400-138313800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:138311600-138313800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr3:138311600-138313800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr3:138311600-138315000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:138311800-138313000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:138311800-138313400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr3:138311800-138313400	Active TSS	NHLF	lung
10	chr3:138311800-138313600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr3:138311800-138313600	Active TSS	Brain Anterior Caudate	brain
12	chr3:138311800-138313800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:138311800-138313800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr3:138311800-138313800	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr3:138311800-138313800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr3:138311800-138313800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr3:138311800-138313800	Active TSS	Rectal Smooth Muscle	rectum
18	chr3:138311800-138314000	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr3:138311800-138314000	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr3:138312000-138312800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:138312000-138312800	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr3:138312000-138313400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:138312000-138313400	Active TSS	Fetal Thymus	thymus
24	chr3:138312000-138313400	Active TSS	K562	blood
25	chr3:138312000-138313400	Active TSS	Osteobl	bone
26	chr3:138312000-138313800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:138312000-138313800	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr3:138312000-138313800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:138312000-138313800	Active TSS	Liver	Liver
30	chr3:138312000-138313800	Active TSS	Colonic Mucosa	Colon
31	chr3:138312000-138313800	Active TSS	Pancreas	Pancrea
32	chr3:138312000-138314000	Active TSS	Fetal Brain Female	brain
33	chr3:138312000-138314000	Active TSS	Fetal Kidney	kidney
34	chr3:138312200-138312800	Flanking Active TSS	HUVEC	blood vessel
35	chr3:138312200-138313000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:138312200-138313000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr3:138312200-138313000	Active TSS	Brain Germinal Matrix	brain
38	chr3:138312200-138313200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:138312200-138313400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:138312200-138313400	Active TSS	Muscle Satellite Cultured Cells	--
41	chr3:138312200-138313400	Active TSS	HMEC	breast
42	chr3:138312200-138313600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:138312200-138313800	Active TSS	H9 Cell Line	embryonic stem cell
44	chr3:138312200-138313800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:138312200-138313800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:138312200-138313800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:138312200-138313800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:138312200-138313800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:138312200-138313800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:138312200-138313800	Active TSS	Breast Myoepithelial Primary Cells	Breast

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