Variant report

Variant	rs34762478
Chromosome Location	chr3:42643600-42643601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:126)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:42643540-42643690	GM12874	blood:	n/a	n/a
2	CTCF	chr3:42643520-42643670	HPF	lung:	n/a	n/a
3	SIN3A	chr3:42643359-42643678	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr3:42643546-42643854	Hela-S3	cervix:	n/a	n/a
5	JUN	chr3:42642947-42644000	K562	blood:	n/a	n/a
6	CTCF	chr3:42643480-42643630	HRPEpiC	eye:	n/a	n/a
7	CTCF	chr3:42643536-42643651	GM13976	blood:	n/a	n/a
8	CTCF	chr3:42643527-42643634	NHEK	skin:	n/a	n/a
9	CTCF	chr3:42643560-42643710	HA-sp	spinal cord:	n/a	n/a
10	CTCF	chr3:42643520-42643670	GM12874	blood:	n/a	n/a
11	POLR2A	chr3:42641593-42644059	K562	blood:	n/a	n/a
12	CTCF	chr3:42643480-42643630	SAEC	small airway:	n/a	n/a
13	RAD21	chr3:42643534-42643663	K562	blood:	n/a	n/a
14	JUND	chr3:42643434-42644100	K562	blood:	n/a	n/a
15	FOS	chr3:42643538-42644039	MCF10A-Er-Src	breast:	n/a	n/a
16	CTCF	chr3:42643460-42643610	AoAF	blood vessel:	n/a	n/a
17	CTCF	chr3:42643520-42643670	HA-sp	spinal cord:	n/a	n/a
18	CTCF	chr3:42643480-42643630	HRE	kidney:	n/a	n/a
19	CTCF	chr3:42643500-42643650	HEEpiC	esophagus:	n/a	n/a
20	RCOR1	chr3:42643432-42643813	K562	blood:	n/a	n/a
21	RAD21	chr3:42643450-42643744	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr3:42643509-42643658	GM12878	blood:	n/a	n/a
23	CTCF	chr3:42643520-42643670	AG09319	gingival:	n/a	n/a
24	CTCF	chr3:42643500-42643650	HMF	breast:	n/a	n/a
25	TEAD4	chr3:42641408-42644046	K562	blood:	n/a	n/a
26	CTCF	chr3:42643480-42643630	GM12873	blood:	n/a	n/a
27	RCOR1	chr3:42643460-42643732	GM12878	blood:	n/a	n/a
28	BHLHE40	chr3:42643417-42643692	K562	blood:	n/a	n/a
29	CTCF	chr3:42643537-42643658	HUVEC	blood vessel:	n/a	n/a
30	MXI1	chr3:42643596-42643796	K562	blood:	n/a	n/a
31	STAT3	chr3:42643165-42644091	MCF10A-Er-Src	breast:	n/a	n/a
32	UBTF	chr3:42643399-42643761	K562	blood:	n/a	n/a
33	CTCF	chr3:42643500-42643650	GM12867	blood:	n/a	n/a
34	RAD21	chr3:42643424-42643759	HepG2	liver:	n/a	n/a
35	CTCF	chr3:42643540-42643690	HCPEpiC	choroid plexus:	n/a	n/a
36	RAD21	chr3:42643439-42643743	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr3:42643500-42643650	GM12870	blood:	n/a	n/a
38	CTCF	chr3:42643534-42643608	GM19240	blood:	n/a	n/a
39	CTCF	chr3:42643480-42643630	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr3:42643564-42643626	GM13977	blood:	n/a	n/a
41	CTCF	chr3:42643460-42643610	GM12864	blood:	n/a	n/a
42	CTCF	chr3:42643500-42643650	HBMEC	blood vessel:	n/a	n/a
43	MYC	chr3:42643374-42644033	MCF10A-Er-Src	breast:	n/a	n/a
44	EP300	chr3:42642568-42643731	K562	blood:	n/a	n/a
45	CTCF	chr3:42643500-42643652	GM19239	blood:	n/a	n/a
46	CTCF	chr3:42643485-42643669	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr3:42643460-42643610	HPAF	blood vessel:	n/a	n/a
48	WRNIP1	chr3:42643506-42643871	GM12878	blood:	n/a	n/a
49	POLR2A	chr3:42643374-42643909	MCF10A-Er-Src	breast:	n/a	n/a
50	TEAD4	chr3:42643190-42643985	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:42629943..42634676-chr3:42635408..42643782,10	MCF-7	breast:
2	chr3:42604560..42606277-chr3:42641170..42643967,2	K562	blood:
3	chr3:42604086..42606277-chr3:42642467..42644274,2	K562	blood:
4	chr3:42639395..42643636-chr3:42699754..42702498,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SS18L2-2	chr3:42642476-42644548	NONHSAT089241

No data

Variant related genes	Relation type
SEC22C	TF binding region
ENSG00000008324	Chromatin interaction
ENSG00000093183	Chromatin interaction
ENSG00000114853	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1062051	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13067987	0.81[EUR][1000 genomes]
rs13072295	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13085695	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13089845	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13090902	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13093680	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13095447	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17074662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17074664	0.94[ASN][1000 genomes]
rs17074669	0.94[ASN][1000 genomes]
rs17074673	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17074674	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17074680	0.94[ASN][1000 genomes]
rs17074693	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2284303	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2284304	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2300057	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2300058	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2302352	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs33969824	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs33984028	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34683820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34687113	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34801786	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34852409	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34977988	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35216140	0.82[EUR][1000 genomes]
rs35506005	0.86[ASN][1000 genomes]
rs35676838	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35770315	0.94[ASN][1000 genomes]
rs35871059	0.82[EUR][1000 genomes]
rs35890296	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36033201	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36043081	0.82[EUR][1000 genomes]
rs3774401	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3774402	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3774404	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3774406	0.86[ASN][1000 genomes]
rs3774407	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3821836	0.87[ASN][1000 genomes]
rs3846058	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3846059	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3856737	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3886782	0.92[ASN][1000 genomes]
rs3900780	0.81[EUR][1000 genomes]
rs56047094	0.82[EUR][1000 genomes]
rs56797870	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57259216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58868911	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59914338	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60232916	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60348477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60535002	0.82[EUR][1000 genomes]
rs61149998	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6441928	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66786953	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67059259	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67165547	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67533173	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67583158	0.82[EUR][1000 genomes]
rs6771105	0.82[EUR][1000 genomes]
rs6772312	0.90[ASN][1000 genomes]
rs6778982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6782164	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67832425	0.82[EUR][1000 genomes]
rs6788548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6790204	0.81[EUR][1000 genomes]
rs6793186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6795296	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6797491	0.82[EUR][1000 genomes]
rs68004576	0.82[EUR][1000 genomes]
rs68028490	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68071013	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72864072	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73829255	0.82[EUR][1000 genomes]
rs7617403	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7617736	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7623867	0.81[EUR][1000 genomes]
rs7624628	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42640800-42643600	Active TSS	Hela-S3	cervix
2	chr3:42640800-42643800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:42641000-42643600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:42641200-42643600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr3:42641200-42643600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr3:42641200-42643600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:42641200-42643600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:42641200-42643600	Active TSS	Fetal Intestine Large	intestine
9	chr3:42641200-42643600	Active TSS	Fetal Muscle Trunk	muscle
10	chr3:42641200-42643600	Active TSS	K562	blood
11	chr3:42641200-42643800	Active TSS	H1 Cell Line	embryonic stem cell
12	chr3:42641200-42643800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:42641200-42643800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr3:42641200-42643800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr3:42641200-42643800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:42641200-42643800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:42641200-42643800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:42641200-42643800	Active TSS	Fetal Intestine Small	intestine
19	chr3:42641200-42643800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr3:42641200-42643800	Active TSS	A549	lung
21	chr3:42641200-42643800	Active TSS	HSMMtube	muscle
22	chr3:42641200-42643800	Active TSS	NHLF	lung
23	chr3:42641200-42644000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr3:42641200-42644000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:42641200-42644000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:42641200-42644200	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr3:42641200-42644200	Active TSS	HMEC	breast
28	chr3:42641400-42643600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:42641400-42643600	Active TSS	Ovary	ovary
30	chr3:42641400-42643600	Active TSS	GM12878-XiMat	blood
31	chr3:42641400-42643600	Active TSS	NHDF-Ad	bronchial
32	chr3:42641400-42643800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr3:42641400-42643800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:42641400-42643800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr3:42641400-42643800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:42641400-42643800	Active TSS	Psoas Muscle	Psoas
37	chr3:42641400-42643800	Active TSS	Right Ventricle	heart
38	chr3:42641400-42644000	Active TSS	Left Ventricle	heart
39	chr3:42641600-42643600	Active TSS	HSMM	muscle
40	chr3:42642200-42643600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:42642200-42644000	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr3:42642600-42643800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr3:42642600-42644000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:42642800-42643800	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr3:42642800-42643800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:42642800-42643800	Active TSS	Right Atrium	heart
47	chr3:42642800-42644000	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr3:42642800-42644000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:42642800-42644000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr3:42642800-42644000	Flanking Active TSS	Brain Hippocampus Middle	brain

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