Variant report

Variant	rs16844274
Chromosome Location	chr4:3398555-3398556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3391760..3394372-chr4:3396180..3399240,3	K562	blood:
2	chr4:3396595..3399618-chr4:3406493..3408618,3	MCF-7	breast:
3	chr4:3398215..3400118-chr4:3400770..3402288,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10022329	1.00[JPT][hapmap]
rs11942127	1.00[JPT][hapmap]
rs11943410	1.00[JPT][hapmap]
rs1203110	1.00[JPT][hapmap]
rs13128489	1.00[JPT][hapmap]
rs13434660	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843151	1.00[JPT][hapmap]
rs16844209	1.00[JPT][hapmap]
rs16844266	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16844277	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16844282	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16844333	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16844345	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs2498323	1.00[JPT][hapmap]
rs28444642	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28525039	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28532840	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28608121	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60881721	0.83[ASN][1000 genomes]
rs6813597	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73792007	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73792010	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73792028	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73795536	0.83[ASN][1000 genomes]
rs73795545	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73795547	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3389200-3403400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:3390000-3404600	Weak transcription	Left Ventricle	heart
3	chr4:3390000-3417200	Weak transcription	Gastric	stomach
4	chr4:3390200-3398600	Weak transcription	Brain Angular Gyrus	brain
5	chr4:3391000-3404600	Weak transcription	Aorta	Aorta
6	chr4:3391000-3414000	Weak transcription	Primary T cells from cord blood	blood
7	chr4:3391200-3398800	Weak transcription	Right Atrium	heart
8	chr4:3391400-3407400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:3391400-3408800	Weak transcription	Ovary	ovary
10	chr4:3391600-3399200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:3391600-3404000	Weak transcription	HSMMtube	muscle
12	chr4:3391600-3407800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:3391800-3401400	Weak transcription	Liver	Liver
14	chr4:3391800-3403000	Weak transcription	HMEC	breast
15	chr4:3391800-3403400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:3391800-3424200	Weak transcription	Colonic Mucosa	Colon
17	chr4:3392000-3417200	Weak transcription	Pancreas	Pancrea
18	chr4:3392400-3403200	Weak transcription	Fetal Intestine Small	intestine
19	chr4:3392400-3409800	Weak transcription	Spleen	Spleen
20	chr4:3392600-3398800	Weak transcription	Esophagus	oesophagus
21	chr4:3392600-3404200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:3393400-3405400	Weak transcription	Brain Germinal Matrix	brain
23	chr4:3393800-3405600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:3394600-3405400	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:3395000-3399000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:3395000-3403200	Weak transcription	HSMM	muscle
27	chr4:3395200-3400000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:3395800-3403200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:3395800-3403600	Weak transcription	Lung	lung
30	chr4:3395800-3406000	Weak transcription	HepG2	liver
31	chr4:3396000-3398800	Weak transcription	Fetal Stomach	stomach
32	chr4:3396000-3406000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:3396400-3403400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr4:3396600-3402800	Weak transcription	NHEK	skin
35	chr4:3396800-3403600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:3397200-3398600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:3397200-3401400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:3397800-3398600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:3397800-3398600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:3398200-3399000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:3398400-3399000	Enhancers	Adipose Nuclei	Adipose
42	chr4:3398400-3399000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr4:3398400-3403200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:3398400-3405600	Weak transcription	Fetal Brain Female	brain
45	chr4:3398400-3405800	Weak transcription	Fetal Lung	lung

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