Variant report

Variant	rs16844302
Chromosome Location	chr4:3416025-3416026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr4:3415695-3416152	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3416000-3416050	SAEC	small airway:	n/a
2	chr4:3416000-3416050	HepG2	liver:	n/a
3	chr4:3416000-3416050	SK-N-SH	brain:	n/a
4	chr4:3416000-3416050	U87	brain:	n/a
5	chr4:3416000-3416050	RPTEC	kidney:	n/a
6	chr4:3416000-3416050	HCF	heart:	n/a
7	chr4:3416000-3416050	HRCEpiC	kidney:	n/a
8	chr4:3416000-3416050	AG04449	skin:	fetal
9	chr4:3416000-3416050	HIPEpiC	eye:	n/a
10	chr4:3416000-3416050	T-47D	breast:	n/a
11	chr4:3416000-3416050	BE2_C	brain:	n/a
12	chr4:3416000-3416050	Caco-2	colon:	n/a
13	chr4:3416000-3416050	ProgFib	skin:	n/a
14	chr4:3416000-3416050	HAEpiC	amniotic membrane:	n/a
15	chr4:3416000-3416050	K562	blood:	n/a
16	chr4:3416000-3416050	NH-A	brain:	n/a
17	chr4:3416000-3416050	NHBE	bronchial:	n/a
18	chr4:3416000-3416050	HCM	heart:	n/a
19	chr4:3416000-3416050	GM06990	blood:	n/a
20	chr4:3416000-3416050	AG04450	lung:	fetal
21	chr4:3416000-3416050	HL-60	blood:	n/a
22	chr4:3416000-3416050	HRPEpiC	eye:	n/a
23	chr4:3416000-3416050	GM12891	blood:	n/a
24	chr4:3416000-3416050	HNPCEpiC	eye:	n/a
25	chr4:3416000-3416050	MCF-7	breast:	n/a
26	chr4:3416000-3416050	HCPEpiC	choroid plexus:	n/a
27	chr4:3416000-3416050	LNCaP	prostate:	n/a
28	chr4:3416000-3416050	SK-N-SH_RA	brain:	n/a
29	chr4:3416000-3416050	ovcar-3	ovarian:	n/a
30	chr4:3416000-3416050	GM12878	blood:	n/a
31	chr4:3416000-3416050	AG09309	skin:	n/a
32	chr4:3416000-3416050	AoSMC	blood vessel:	n/a
33	chr4:3416000-3416050	SK-N-MC	brain:	n/a
34	chr4:3416000-3416050	BJ	skin:	n/a
35	chr4:3416000-3416050	H1-hESC	embryonic stem cell:	embryo
36	chr4:3416000-3416050	ECC-1	luminal epithelium:	n/a
37	chr4:3416000-3416050	PANC-1	pancreas:	n/a
38	chr4:3416000-3416050	MCF10A-Er-Src	breast:	n/a
39	chr4:3416000-3416050	A549	lung:	n/a
40	chr4:3416000-3416050	HEEpiC	esophagus:	n/a
41	chr4:3416000-3416050	NB4	blood:	n/a
42	chr4:3416000-3416050	GM19239	blood:	n/a
43	chr4:3416000-3416050	IMR90	lung:	fetal
44	chr4:3416000-3416050	NHDF-neo	bronchial:	n/a
45	chr4:3416000-3416050	GM12892	blood:	n/a
46	chr4:3416000-3416050	HPAEpiC	pulmonary alveolar:	n/a
47	chr4:3416000-3416050	AG09319	gingival:	n/a
48	chr4:3416000-3416050	CMK	blood:	n/a
49	chr4:3416000-3416050	Hela-S3	cervix:	n/a
50	chr4:3416000-3416050	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3415712..3418675-chr4:3431596..3433223,2	MCF-7	breast:
2	chr4:3403927..3406519-chr4:3415775..3417384,2	MCF-7	breast:

No data

Variant related genes	Relation type
RGS12	TF binding region
RGS12	CpG island

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16844300	0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16844303	0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16844311	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16844316	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS 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	13 gene(s)	inside rSNPs	diseases
4	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv878462	chr4:3311548-3505448	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1007847	chr4:3317904-3527357	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv537001	chr4:3317904-3527357	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv878463	chr4:3363994-3498896	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv428435	chr4:3386773-3623321	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv933265	chr4:3392824-4283640	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer 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 miRNA target site	60 gene(s)	inside rSNPs	diseases
11	esv2757918	chr4:3394344-4350986	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
12	esv2759219	chr4:3394344-4350986	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv461166	chr4:3405165-3451109	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv593450	chr4:3405165-3451109	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv878464	chr4:3405165-3505448	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv878465	chr4:3405165-3566567	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	esv1791851	chr4:3407753-3534022	Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv1000383	chr4:3412585-3839781	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
19	nsv461167	chr4:3413209-3446112	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv593451	chr4:3413209-3446112	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv461168	chr4:3413209-3449652	Genic enhancers Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv593452	chr4:3413209-3449652	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv878466	chr4:3413209-3451109	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv878467	chr4:3413209-3454304	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv878468	chr4:3413209-3471754	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
26	nsv878469	chr4:3413209-3566567	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
27	nsv878470	chr4:3413209-3566567	Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
28	nsv878471	chr4:3413209-3884998	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
29	nsv878472	chr4:3414654-3451109	Weak transcription Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
30	nsv878473	chr4:3414654-3473139	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
31	esv1816543	chr4:3414654-3942867	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3390000-3417200	Weak transcription	Gastric	stomach
2	chr4:3391800-3424200	Weak transcription	Colonic Mucosa	Colon
3	chr4:3392000-3417200	Weak transcription	Pancreas	Pancrea
4	chr4:3399200-3432200	Weak transcription	Right Atrium	heart
5	chr4:3401600-3416200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:3403400-3417200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:3405200-3418800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:3406400-3417200	Weak transcription	HMEC	breast
9	chr4:3406600-3417200	Weak transcription	HSMM	muscle
10	chr4:3406800-3417400	Weak transcription	Aorta	Aorta
11	chr4:3407200-3417200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:3407200-3417200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:3407200-3417800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:3407400-3417800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:3407600-3417200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:3407600-3418000	Weak transcription	Left Ventricle	heart
17	chr4:3407800-3417600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:3408200-3416600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:3408600-3417200	Weak transcription	HSMMtube	muscle
20	chr4:3408800-3436600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr4:3409400-3417200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:3411000-3416600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:3411000-3417800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:3411000-3436400	Strong transcription	Fetal Intestine Small	intestine
25	chr4:3411200-3436400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:3411200-3436600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:3411400-3425600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:3411800-3420000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:3412000-3417200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:3412400-3417600	Weak transcription	NHEK	skin
31	chr4:3412600-3416200	Weak transcription	Liver	Liver
32	chr4:3412600-3417800	Weak transcription	Fetal Brain Female	brain
33	chr4:3413000-3417400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:3413200-3417800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:3413200-3420000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:3413600-3418600	Weak transcription	Thymus	Thymus
37	chr4:3413600-3437000	Strong transcription	Esophagus	oesophagus
38	chr4:3413800-3417200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:3414000-3416800	Enhancers	Brain Hippocampus Middle	brain
40	chr4:3414000-3417400	Enhancers	Brain Anterior Caudate	brain
41	chr4:3414000-3418000	Weak transcription	HUVEC	blood vessel
42	chr4:3414200-3416200	Enhancers	Brain Substantia Nigra	brain
43	chr4:3414400-3416800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr4:3414400-3418800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:3414400-3419600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:3414600-3417200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr4:3414600-3417600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr4:3415000-3416200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr4:3415000-3416400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:3415000-3417200	Enhancers	Primary hematopoietic stem cells	blood

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