Variant report

Variant	rs12930850
Chromosome Location	chr16:81602212-81602213
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81477018..81482401-chr16:81598968..81605345,9	MCF-7	breast:
2	chr16:81589280..81593699-chr16:81599147..81604604,6	MCF-7	breast:
3	chr16:81596628..81600367-chr16:81601999..81604973,3	MCF-7	breast:
4	chr16:81501153..81503002-chr16:81601427..81603985,2	K562	blood:
5	chr16:81601841..81604021-chr16:81605526..81607145,2	MCF-7	breast:
6	chr16:81572606..81575299-chr16:81599746..81602718,2	MCF-7	breast:
7	chr16:81600677..81603897-chr16:81613066..81616910,4	MCF-7	breast:
8	chr16:81586835..81588438-chr16:81601236..81603502,2	MCF-7	breast:
9	chr16:81602073..81603967-chr16:81621534..81623080,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11640346	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11642655	0.82[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11644375	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11648151	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs11649004	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12918645	0.89[CEU][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12923364	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12924701	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12925388	0.86[EUR][1000 genomes]
rs12926649	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12929303	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12930698	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12931242	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12934751	0.86[EUR][1000 genomes]
rs2966117	0.81[CHD][hapmap]
rs2966120	0.88[CHD][hapmap]
rs4483835	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889341	0.80[EUR][1000 genomes]
rs6564890	0.82[ASW][hapmap];0.89[CEU][hapmap];0.83[CHB][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7189295	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7196195	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs7196548	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7198940	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7199293	0.85[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8044524	0.83[GIH][hapmap]
rs8045100	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8045875	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9937613	0.86[EUR][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:100 , 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	chr16:81598200-81603400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr16:81598200-81609200	Weak transcription	Brain Angular Gyrus	brain
13	chr16:81598400-81603600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:81598600-81609200	Genic enhancers	HepG2	liver
15	chr16:81599000-81608600	Genic enhancers	Fetal Intestine Small	intestine
16	chr16:81599000-81633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:81599200-81603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr16:81599200-81604400	Enhancers	Fetal Intestine Large	intestine
19	chr16:81599200-81614600	Weak transcription	Fetal Kidney	kidney
20	chr16:81599600-81605600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr16:81600400-81616200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr16:81600600-81602600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr16:81600600-81603400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:81600800-81603400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr16:81601000-81602600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr16:81601000-81604600	Enhancers	Pancreas	Pancrea
27	chr16:81601000-81610000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr16:81601000-81616200	Weak transcription	Primary T cells from cord blood	blood
29	chr16:81601200-81602600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr16:81601200-81602600	Transcr. at gene 5' and 3'	A549	lung
31	chr16:81601200-81602600	Enhancers	HUVEC	blood vessel
32	chr16:81601200-81602800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:81601200-81603200	Enhancers	Duodenum Mucosa	Duodenum
34	chr16:81601200-81603400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr16:81601200-81604000	Enhancers	Colonic Mucosa	Colon
36	chr16:81601200-81604600	Enhancers	HMEC	breast
37	chr16:81601400-81602400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr16:81601400-81602600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr16:81601400-81602600	Enhancers	Fetal Thymus	thymus
40	chr16:81601400-81602800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:81601400-81604600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:81601400-81604800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr16:81601600-81602600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:81601600-81602600	Enhancers	Hela-S3	cervix
45	chr16:81601600-81602600	Enhancers	HSMMtube	muscle
46	chr16:81601600-81602800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr16:81601600-81603000	Enhancers	Brain Hippocampus Middle	brain
48	chr16:81601600-81603000	Enhancers	NHDF-Ad	bronchial
49	chr16:81601600-81603400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:81601600-81603600	Enhancers	Gastric	stomach

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