Variant report

Variant	rs4683309
Chromosome Location	chr3:46719010-46719011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:46718979-46719029	NHDF-neo	bronchial:	n/a
2	chr3:46718979-46719029	HPAEpiC	pulmonary alveolar:	n/a
3	chr3:46718990-46719040	NT2-D1	testis:	n/a
4	chr3:46718979-46719029	HAEpiC	amniotic membrane:	n/a
5	chr3:46718990-46719040	IMR90	lung:	fetal
6	chr3:46718990-46719040	HCF	heart:	n/a
7	chr3:46718990-46719040	HEEpiC	esophagus:	n/a
8	chr3:46718979-46719029	GM12891	blood:	n/a
9	chr3:46718979-46719029	MCF-7	breast:	n/a
10	chr3:46718990-46719040	PANC-1	pancreas:	n/a
11	chr3:46718979-46719029	GM19239	blood:	n/a
12	chr3:46718979-46719029	BE2_C	brain:	n/a
13	chr3:46718979-46719029	HUVEC	blood vessel:	n/a
14	chr3:46718990-46719040	RPTEC	kidney:	n/a
15	chr3:46718990-46719040	HUVEC	blood vessel:	n/a
16	chr3:46718979-46719029	A549	lung:	n/a
17	chr3:46718979-46719029	ProgFib	skin:	n/a
18	chr3:46718979-46719029	HIPEpiC	eye:	n/a
19	chr3:46718979-46719029	HCT-116	colon:	n/a
20	chr3:46718990-46719040	GM12891	blood:	n/a
21	chr3:46718979-46719029	AG04449	skin:	fetal
22	chr3:46718979-46719029	HRCEpiC	kidney:	n/a
23	chr3:46718979-46719029	HCM	heart:	n/a
24	chr3:46718990-46719040	SAEC	small airway:	n/a
25	chr3:46718990-46719040	GM12892	blood:	n/a
26	chr3:46718990-46719040	U87	brain:	n/a
27	chr3:46718990-46719040	HCPEpiC	choroid plexus:	n/a
28	chr3:46718990-46719040	NB4	blood:	n/a
29	chr3:46718979-46719029	HRE	kidney:	n/a
30	chr3:46718979-46719029	HCF	heart:	n/a
31	chr3:46718979-46719029	RPTEC	kidney:	n/a
32	chr3:46718979-46719029	NHBE	bronchial:	n/a
33	chr3:46718979-46719029	T-47D	breast:	n/a
34	chr3:46718979-46719029	AG04450	lung:	fetal
35	chr3:46718979-46719029	AG10803	skin:	n/a
36	chr3:46718990-46719040	Jurkat	blood:	n/a
37	chr3:46718979-46719029	PFSK-1	brain:	n/a
38	chr3:46718990-46719040	GM06990	blood:	n/a
39	chr3:46718979-46719029	HNPCEpiC	eye:	n/a
40	chr3:46718990-46719040	Hela-S3	cervix:	n/a
41	chr3:46718990-46719040	SK-N-SH	brain:	n/a
42	chr3:46718990-46719040	ECC-1	luminal epithelium:	n/a
43	chr3:46718979-46719029	SKMC	muscle:	n/a
44	chr3:46718990-46719040	T-47D	breast:	n/a
45	chr3:46718979-46719029	K562	blood:	n/a
46	chr3:46718979-46719029	ECC-1	luminal epithelium:	n/a
47	chr3:46718979-46719029	SK-N-SH_RA	brain:	n/a
48	chr3:46718979-46719029	AG09309	skin:	n/a
49	chr3:46718979-46719029	Caco-2	colon:	n/a
50	chr3:46718990-46719040	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46717709..46719534-chr3:46734745..46736639,2	MCF-7	breast:

No data

Variant related genes	Relation type
ALS2CL	CpG island
ENSG00000178038	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10451990	0.82[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13080080	0.82[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4683269	0.81[ASN][1000 genomes]
rs6442017	0.81[ASN][1000 genomes]
rs6442019	0.88[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6803988	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9810659	0.93[ASN][1000 genomes]
rs9868213	0.93[ASN][1000 genomes]
rs9876451	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv876739	chr3:46656980-46744966	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv876740	chr3:46656980-46748453	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv876741	chr3:46663372-46763839	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	nsv516623	chr3:46680063-46852679	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	esv1804680	chr3:46704348-46869911	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv876742	chr3:46705369-46763839	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
11	nsv536555	chr3:46706571-46817963	Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv536556	chr3:46706571-46849443	Genic enhancers Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv536557	chr3:46706571-46853434	Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	nsv10268	chr3:46707169-46736718	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
16	esv1797503	chr3:46708712-46760713	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
17	nsv876743	chr3:46716523-46753577	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
18	nsv876744	chr3:46716523-46763839	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46702800-46732400	Weak transcription	Psoas Muscle	Psoas
2	chr3:46703000-46731600	Weak transcription	Hela-S3	cervix
3	chr3:46705400-46732600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:46705400-46734400	Weak transcription	Ovary	ovary
5	chr3:46710000-46722000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:46710200-46722800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr3:46711400-46726800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:46711400-46730400	Strong transcription	Primary T cells from cord blood	blood
9	chr3:46711400-46731800	Strong transcription	NHEK	skin
10	chr3:46711600-46731000	Strong transcription	Esophagus	oesophagus
11	chr3:46711800-46731200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:46712000-46720400	Strong transcription	Lung	lung
13	chr3:46712400-46730600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:46713000-46732000	Weak transcription	Stomach Mucosa	stomach
15	chr3:46714800-46729600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:46714800-46730400	Strong transcription	HMEC	breast
17	chr3:46715200-46723800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:46715400-46731600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:46715600-46720200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:46715600-46721800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:46715800-46724000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:46716000-46732000	Strong transcription	Fetal Intestine Small	intestine
23	chr3:46717000-46719200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr3:46717000-46719400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:46717000-46719400	Enhancers	Fetal Muscle Leg	muscle
26	chr3:46717200-46721400	Weak transcription	Pancreas	Pancrea
27	chr3:46717200-46723800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:46717400-46719400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr3:46717400-46733800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:46717600-46719200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:46717800-46722000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:46717800-46722400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:46717800-46722400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr3:46717800-46722600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:46717800-46722600	Weak transcription	Brain Substantia Nigra	brain
36	chr3:46717800-46733600	Weak transcription	Brain Angular Gyrus	brain
37	chr3:46717800-46734000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr3:46718000-46720200	Weak transcription	Aorta	Aorta
39	chr3:46718000-46721000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr3:46718000-46721600	Weak transcription	Adipose Nuclei	Adipose
41	chr3:46718200-46720400	Weak transcription	Gastric	stomach
42	chr3:46718200-46720600	Weak transcription	Right Ventricle	heart
43	chr3:46718200-46723600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:46718400-46719200	Enhancers	Right Atrium	heart
45	chr3:46718600-46719200	Strong transcription	Spleen	Spleen
46	chr3:46718600-46722800	Weak transcription	Liver	Liver
47	chr3:46718600-46724200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:46718800-46719200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:46718800-46719200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr3:46718800-46719200	Genic enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links