Variant report

Variant	rs8044524
Chromosome Location	chr16:81603771-81603772
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81602506..81605471-chr16:81607457..81609073,2	K562	blood:
2	chr16:81598717..81600767-chr16:81602624..81604368,2	K562	blood:
3	chr16:81477018..81482401-chr16:81598968..81605345,9	MCF-7	breast:
4	chr16:81589280..81593699-chr16:81599147..81604604,6	MCF-7	breast:
5	chr16:81598717..81601651-chr16:81602868..81605781,2	K562	blood:
6	chr16:81596628..81600367-chr16:81601999..81604973,3	MCF-7	breast:
7	chr16:81501153..81503002-chr16:81601427..81603985,2	K562	blood:
8	chr16:81601841..81604021-chr16:81605526..81607145,2	MCF-7	breast:
9	chr16:81602634..81605385-chr16:81607710..81610701,3	MCF-7	breast:
10	chr16:81600677..81603897-chr16:81613066..81616910,4	MCF-7	breast:
11	chr16:81596623..81599518-chr16:81602688..81606938,4	MCF-7	breast:
12	chr16:81602466..81604147-chr16:81604965..81607517,2	MCF-7	breast:
13	chr16:81602073..81603967-chr16:81621534..81623080,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11644375	0.82[CEU][hapmap];0.83[GIH][hapmap];0.82[TSI][hapmap]
rs11649004	0.83[GIH][hapmap];0.82[TSI][hapmap]
rs12925980	0.81[CEU][hapmap];0.89[GIH][hapmap];0.80[MEX][hapmap];0.81[EUR][1000 genomes]
rs12930850	0.83[GIH][hapmap]
rs4316746	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4632124	0.86[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs4888156	0.81[CEU][hapmap];0.87[GIH][hapmap];0.80[MEX][hapmap];0.81[EUR][1000 genomes]
rs7198940	0.80[TSI][hapmap]
rs8045100	0.82[CEU][hapmap];0.84[GIH][hapmap];0.82[TSI][hapmap]
rs8045614	0.81[CEU][hapmap];0.80[CHD][hapmap];0.84[GIH][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8045875	0.83[GIH][hapmap];0.80[TSI][hapmap]
rs8062503	0.87[EUR][1000 genomes];0.87[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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
4	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	esv2754804	chr16:81579729-81606569	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1898	chr16:81581637-81626505	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv573361	chr16:81591496-81610722	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv524589	chr16:81592934-81609298	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv573362	chr16:81592934-81609298	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv2752604	chr16:81595597-81606569	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81581600-81608400	Weak transcription	Primary B cells from cord blood	blood
2	chr16:81585600-81628600	Weak transcription	GM12878-XiMat	blood
3	chr16:81587000-81603800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr16:81593200-81619400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:81593200-81621000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr16:81593200-81622400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr16:81593200-81641200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr16:81593400-81619200	Weak transcription	K562	blood
10	chr16:81594400-81606200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr16:81598200-81609200	Weak transcription	Brain Angular Gyrus	brain
12	chr16:81598600-81609200	Genic enhancers	HepG2	liver
13	chr16:81599000-81608600	Genic enhancers	Fetal Intestine Small	intestine
14	chr16:81599000-81633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:81599200-81603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr16:81599200-81604400	Enhancers	Fetal Intestine Large	intestine
17	chr16:81599200-81614600	Weak transcription	Fetal Kidney	kidney
18	chr16:81599600-81605600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr16:81600400-81616200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr16:81601000-81604600	Enhancers	Pancreas	Pancrea
21	chr16:81601000-81610000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr16:81601000-81616200	Weak transcription	Primary T cells from cord blood	blood
23	chr16:81601200-81604000	Enhancers	Colonic Mucosa	Colon
24	chr16:81601200-81604600	Enhancers	HMEC	breast
25	chr16:81601400-81604600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:81601400-81604800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr16:81601600-81604000	Enhancers	Liver	Liver
28	chr16:81601600-81604200	Enhancers	Esophagus	oesophagus
29	chr16:81601600-81604800	Enhancers	Fetal Muscle Leg	muscle
30	chr16:81602000-81604600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr16:81602000-81604800	Enhancers	Fetal Muscle Trunk	muscle
32	chr16:81602000-81615600	Weak transcription	Thymus	Thymus
33	chr16:81602200-81604000	Genic enhancers	NHEK	skin
34	chr16:81602200-81605600	Weak transcription	Fetal Lung	lung
35	chr16:81602200-81607600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr16:81602200-81607800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr16:81602200-81615000	Weak transcription	Small Intestine	intestine
38	chr16:81602200-81616000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:81602200-81617800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr16:81602400-81603800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr16:81602400-81603800	Weak transcription	Ovary	ovary
42	chr16:81602400-81603800	Weak transcription	Right Ventricle	heart
43	chr16:81602400-81611400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:81602600-81603800	Enhancers	Stomach Smooth Muscle	stomach
45	chr16:81602600-81606000	Weak transcription	Fetal Thymus	thymus
46	chr16:81602600-81606000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr16:81602600-81607600	Weak transcription	Fetal Brain Male	brain
48	chr16:81602600-81607800	Weak transcription	Brain Substantia Nigra	brain
49	chr16:81602600-81609600	Genic enhancers	A549	lung
50	chr16:81602600-81615400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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