Variant report

Variant	rs3848389
Chromosome Location	chr16:71839915-71839916
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71838683..71840929-chr16:71878375..71880684,2	MCF-7	breast:
2	chr16:71829817..71832917-chr16:71838468..71842118,4	K562	blood:
3	chr16:71838848..71841056-chr16:71860564..71862352,2	K562	blood:
4	chr16:71837538..71839968-chr16:71928011..71930440,3	MCF-7	breast:
5	chr16:71838481..71840566-chr16:71916985..71919291,2	MCF-7	breast:
6	chr16:71837179..71840016-chr16:71841209..71843366,4	MCF-7	breast:
7	chr16:71821041..71823920-chr16:71838306..71840822,3	MCF-7	breast:
8	chr16:71837284..71840265-chr16:71840475..71842690,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166747	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000224470	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10083757	0.82[ASN][1000 genomes]
rs10220961	0.81[ASN][1000 genomes]
rs10459804	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10459805	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11075900	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11075902	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11539980	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11640725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11641873	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11645467	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11646635	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11646748	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11866795	0.84[ASN][1000 genomes]
rs12447856	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12597065	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12597418	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12598902	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12920243	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12925587	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12926987	0.81[AMR][1000 genomes]
rs12930206	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12935426	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1392483	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1392487	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2036337	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2036338	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2270829	0.81[ASN][1000 genomes]
rs2270830	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2270831	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2270832	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278031	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28439683	0.81[AMR][1000 genomes]
rs28582831	0.81[AMR][1000 genomes]
rs28704189	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34158217	0.90[ASN][1000 genomes]
rs34734042	0.85[EUR][1000 genomes]
rs35173463	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3751817	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4788442	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788551	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4788552	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4788554	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4788558	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60881203	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7185997	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7192956	0.82[ASN][1000 genomes]
rs7201228	0.81[ASN][1000 genomes]
rs7203231	0.92[ASN][1000 genomes]
rs7404381	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7501228	0.88[ASN][1000 genomes]
rs8051760	0.84[ASN][1000 genomes]
rs8052999	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8060867	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8062441	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8062477	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs918721	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs951453	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs951939	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9921270	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9922054	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9925069	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9925228	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9931717	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9936903	0.81[AMR][1000 genomes]
rs9937280	0.81[AMR][1000 genomes]
rs9939455	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9940990	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers 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 miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:71816000-71840400	Weak transcription	Fetal Kidney	kidney
3	chr16:71821400-71840000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:71823200-71840400	Weak transcription	HUVEC	blood vessel
5	chr16:71823200-71841400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:71823400-71840000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:71823400-71840000	Weak transcription	Brain Angular Gyrus	brain
8	chr16:71823400-71840000	Weak transcription	Brain Anterior Caudate	brain
9	chr16:71823400-71840000	Weak transcription	K562	blood
10	chr16:71823400-71840200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr16:71823400-71840200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr16:71823400-71840400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr16:71823400-71840400	Weak transcription	Fetal Brain Male	brain
14	chr16:71823400-71840400	Weak transcription	NH-A	brain
15	chr16:71823400-71841000	Weak transcription	Colonic Mucosa	Colon
16	chr16:71823400-71841400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr16:71823400-71841400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr16:71823400-71841400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr16:71823400-71841600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr16:71823400-71841600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr16:71823400-71841600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:71823400-71841600	Weak transcription	Aorta	Aorta
23	chr16:71823400-71841800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:71823400-71841800	Weak transcription	Esophagus	oesophagus
25	chr16:71823400-71841800	Weak transcription	Pancreas	Pancrea
26	chr16:71823600-71840000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr16:71823600-71840400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr16:71823800-71840800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr16:71826400-71840200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr16:71826600-71840400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:71826600-71840400	Weak transcription	Right Ventricle	heart
32	chr16:71827000-71840200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr16:71827000-71841000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr16:71827000-71841000	Weak transcription	Right Atrium	heart
35	chr16:71827000-71841800	Weak transcription	Spleen	Spleen
36	chr16:71827400-71841200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr16:71827600-71840200	Weak transcription	NHEK	skin
38	chr16:71830000-71840200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr16:71830000-71841400	Weak transcription	Thymus	Thymus
40	chr16:71830200-71841000	Weak transcription	Fetal Thymus	thymus
41	chr16:71830800-71840000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr16:71830800-71840000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr16:71830800-71840000	Weak transcription	Colon Smooth Muscle	Colon
44	chr16:71830800-71840200	Weak transcription	Psoas Muscle	Psoas
45	chr16:71830800-71841200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr16:71831000-71840000	Weak transcription	Primary T cells from cord blood	blood
47	chr16:71831000-71841600	Weak transcription	Ovary	ovary
48	chr16:71831400-71840000	Weak transcription	HSMMtube	muscle
49	chr16:71831600-71840200	Strong transcription	Fetal Stomach	stomach
50	chr16:71832000-71840000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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