Variant report

Variant	rs16944345
Chromosome Location	chr16:81008361-81008362
allele	C/T
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	chr16:81008293..81009087-chr16:81022137..81022800,2	MCF-7	breast:
2	chr16:81006336..81010251-chr16:81016347..81019319,3	K562	blood:
3	chr16:81007590..81009506-chr16:81039765..81041887,2	MCF-7	breast:
4	chr16:81007937..81010698-chr16:81068486..81070530,2	MCF-7	breast:
5	chr16:81007739..81010251-chr16:81016347..81018529,2	K562	blood:
6	chr16:81008172..81008838-chr16:89926929..89927458,2	MCF-7	breast:
7	chr16:81006406..81009066-chr16:81012697..81014236,2	K562	blood:
8	chr16:81008331..81009125-chr16:81068545..81069747,6	MCF-7	breast:
9	chr16:81006720..81008991-chr16:81041065..81043268,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260213	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000166451	Chromatin interaction

Extended variants
information (count: 154 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs10492891	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11150333	0.82[ASN][1000 genomes]
rs11150335	0.92[EUR][1000 genomes]
rs1127390	0.99[ASN][1000 genomes]
rs11866375	0.87[ASN][1000 genomes]
rs11866803	0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs12446304	0.85[ASN][1000 genomes]
rs12446810	0.87[ASN][1000 genomes]
rs12448656	0.86[ASN][1000 genomes]
rs12918429	0.93[EUR][1000 genomes]
rs13331118	0.86[ASN][1000 genomes]
rs13332902	0.91[ASN][1000 genomes]
rs13334887	0.84[ASN][1000 genomes]
rs13336629	0.92[ASN][1000 genomes]
rs1469123	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs1469124	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1469125	0.88[ASN][1000 genomes]
rs1469126	0.86[ASN][1000 genomes]
rs1477381	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1549288	0.91[CHB][hapmap]
rs16944339	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16944347	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs16954366	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1964298	0.80[ASN][1000 genomes]
rs2011142	0.86[EUR][1000 genomes]
rs2098726	0.88[ASN][1000 genomes]
rs2113196	0.88[ASN][1000 genomes]
rs2113197	0.88[ASN][1000 genomes]
rs2123627	0.86[ASN][1000 genomes]
rs2167889	0.92[ASN][1000 genomes]
rs2167890	0.93[EUR][1000 genomes]
rs2194321	0.88[ASN][1000 genomes]
rs2216753	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs2244452	1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs2316923	0.88[ASN][1000 genomes]
rs2549822	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2549825	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2549828	1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs2549831	0.93[EUR][1000 genomes]
rs2549832	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2549833	0.88[ASN][1000 genomes]
rs2549834	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2549835	0.89[ASN][1000 genomes]
rs2549836	0.89[ASN][1000 genomes]
rs2549837	0.89[ASN][1000 genomes]
rs2549838	0.89[ASN][1000 genomes]
rs2549839	0.89[ASN][1000 genomes]
rs2549840	0.91[ASN][1000 genomes]
rs2549841	0.95[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs2549842	0.89[ASN][1000 genomes]
rs2549843	0.89[ASN][1000 genomes]
rs2549844	0.86[ASN][1000 genomes]
rs2549846	0.89[ASN][1000 genomes]
rs2549847	0.89[ASN][1000 genomes]
rs2549848	0.89[ASN][1000 genomes]
rs2549852	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs2549853	0.88[ASN][1000 genomes]
rs2549854	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs2549855	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs2549856	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs2549857	0.95[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2549858	0.86[ASN][1000 genomes]
rs2549859	0.86[ASN][1000 genomes]
rs2549860	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2549861	0.88[ASN][1000 genomes]
rs2549863	0.86[ASN][1000 genomes]
rs2549865	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs2549866	0.87[ASN][1000 genomes]
rs2549867	0.87[ASN][1000 genomes]
rs2549868	0.87[ASN][1000 genomes]
rs2549869	0.87[ASN][1000 genomes]
rs2549870	0.85[ASN][1000 genomes]
rs2549871	0.87[ASN][1000 genomes]
rs2549872	0.85[ASN][1000 genomes]
rs2549883	0.80[ASN][1000 genomes]
rs2549887	0.91[CHB][hapmap]
rs2602409	0.87[ASN][1000 genomes]
rs2602410	0.87[ASN][1000 genomes]
rs2602411	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs2602412	0.87[ASN][1000 genomes]
rs2602413	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs2602414	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs2602416	0.87[ASN][1000 genomes]
rs2602417	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs2602418	0.87[ASN][1000 genomes]
rs2602419	0.87[ASN][1000 genomes]
rs2602423	0.86[ASN][1000 genomes]
rs2602424	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs2602433	0.88[ASN][1000 genomes]
rs2602434	0.86[ASN][1000 genomes]
rs2602435	0.87[ASN][1000 genomes]
rs2602436	0.95[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs2602437	0.87[ASN][1000 genomes]
rs2602440	0.87[ASN][1000 genomes]
rs2602441	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs2602443	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs2602446	0.92[ASN][1000 genomes]
rs2602447	0.87[CHB][hapmap]
rs2602448	0.89[ASN][1000 genomes]
rs2602449	0.89[ASN][1000 genomes]
rs2602450	0.93[EUR][1000 genomes]
rs2602453	0.88[ASN][1000 genomes]
rs28659930	0.93[EUR][1000 genomes]
rs2911148	0.89[ASN][1000 genomes]
rs2911150	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs2911151	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs2911152	0.95[CHB][hapmap]
rs2970080	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs2970081	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs2970083	0.88[ASN][1000 genomes]
rs2970084	0.88[ASN][1000 genomes]
rs2970085	0.88[ASN][1000 genomes]
rs2970086	0.88[ASN][1000 genomes]
rs3112035	0.87[ASN][1000 genomes]
rs3112036	0.87[ASN][1000 genomes]
rs3759933	0.85[EUR][1000 genomes]
rs3784814	0.86[ASN][1000 genomes]
rs3826048	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs55776427	0.92[ASN][1000 genomes]
rs56306230	0.86[ASN][1000 genomes]
rs60779117	0.87[ASN][1000 genomes]
rs66516157	0.84[ASN][1000 genomes]
rs71400133	0.87[ASN][1000 genomes]
rs7196960	0.86[ASN][1000 genomes]
rs7197370	0.90[CHB][hapmap]
rs874053	0.94[ASN][1000 genomes]
rs874054	0.96[ASN][1000 genomes]
rs9888895	0.87[ASN][1000 genomes]
rs9889194	0.95[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs9921348	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs9921448	0.98[ASN][1000 genomes]
rs9921914	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs9923948	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs9929815	0.86[EUR][1000 genomes]
rs9931063	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs9931292	0.98[ASN][1000 genomes]
rs9932857	0.84[ASN][1000 genomes]
rs9934957	0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs9936366	0.86[ASN][1000 genomes]
rs9937731	1.00[CEU][hapmap]
rs9938541	0.85[ASN][1000 genomes]
rs9939934	1.00[CEU][hapmap];0.93[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	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1058045	chr16:80918138-81048242	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv2756816	chr16:80972279-81027142	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv2758663	chr16:80972279-81027142	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	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
9	nsv817744	chr16:80989859-81027685	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv11135	chr16:80997245-81028812	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv573337	chr16:80997892-81027685	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1061745	chr16:80998523-81029147	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16944345	C16orf61	cis	multi-tissue	Pritchard

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80989400-81008800	Weak transcription	Gastric	stomach
2	chr16:80994600-81026400	Weak transcription	HSMMtube	muscle
3	chr16:80994800-81023400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:80996200-81008600	Weak transcription	Aorta	Aorta
5	chr16:80996600-81018600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:80997800-81008800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:80998000-81009600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:80998200-81009400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr16:80998200-81013800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:80998400-81030800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr16:80998600-81014800	Weak transcription	Brain Angular Gyrus	brain
12	chr16:81001000-81020400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr16:81001200-81008600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr16:81001200-81008800	Weak transcription	Spleen	Spleen
15	chr16:81001200-81013600	Weak transcription	Brain Hippocampus Middle	brain
16	chr16:81001400-81008400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:81001400-81010200	Weak transcription	Colonic Mucosa	Colon
18	chr16:81001400-81013800	Weak transcription	Brain Anterior Caudate	brain
19	chr16:81001400-81026400	Weak transcription	NHLF	lung
20	chr16:81001400-81038000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:81001600-81008600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr16:81001600-81008800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr16:81001800-81008800	Weak transcription	Ovary	ovary
24	chr16:81002000-81013800	Weak transcription	Brain Germinal Matrix	brain
25	chr16:81002400-81008600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr16:81002400-81013200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr16:81002600-81008800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr16:81002600-81008800	Weak transcription	Thymus	Thymus
29	chr16:81002600-81010000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr16:81002600-81012200	Weak transcription	Adipose Nuclei	Adipose
31	chr16:81002600-81013000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr16:81002600-81013000	Weak transcription	Fetal Intestine Large	intestine
33	chr16:81002600-81019400	Weak transcription	HMEC	breast
34	chr16:81002800-81008400	Weak transcription	Fetal Lung	lung
35	chr16:81002800-81008800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr16:81002800-81008800	Weak transcription	Small Intestine	intestine
37	chr16:81002800-81017800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr16:81003000-81008600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr16:81003200-81008800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:81003200-81012200	Weak transcription	HUVEC	blood vessel
41	chr16:81003400-81011600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:81003600-81008400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr16:81003600-81011000	Weak transcription	A549	lung
44	chr16:81003600-81026800	Weak transcription	Brain Substantia Nigra	brain
45	chr16:81003800-81008800	Weak transcription	Pancreas	Pancrea
46	chr16:81003800-81011400	Strong transcription	Hela-S3	cervix
47	chr16:81004000-81008400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr16:81004200-81008800	Weak transcription	Lung	lung
49	chr16:81004200-81025000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr16:81004400-81008600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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