Variant report

Variant	rs7202000
Chromosome Location	chr16:71838581-71838582
allele	G/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71837457..71839275-chr16:71840864..71843098,3	MCF-7	breast:
2	chr16:71829817..71832917-chr16:71838468..71842118,4	K562	blood:
3	chr16:71823170..71824685-chr16:71836781..71838672,2	K562	blood:
4	chr16:71828587..71830116-chr16:71837179..71839445,2	MCF-7	breast:
5	chr16:71837538..71839968-chr16:71928011..71930440,3	MCF-7	breast:
6	chr16:71838481..71840566-chr16:71916985..71919291,2	MCF-7	breast:
7	chr16:71827635..71829503-chr16:71836408..71838794,2	K562	blood:
8	chr16:71837179..71840016-chr16:71841209..71843366,4	MCF-7	breast:
9	chr16:71821041..71823920-chr16:71838306..71840822,3	MCF-7	breast:
10	chr16:71815390..71817110-chr16:71837324..71839084,3	K562	blood:
11	chr16:71837284..71840265-chr16:71840475..71842690,5	K562	blood:

No data

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

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs13334617	1.00[AMR][1000 genomes]
rs13335391	1.00[AMR][1000 genomes]
rs13337119	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28436203	0.83[AFR][1000 genomes]
rs28450081	1.00[AMR][1000 genomes]
rs28450346	1.00[AMR][1000 genomes]
rs28711364	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58324033	1.00[EUR][1000 genomes]
rs59358880	1.00[AMR][1000 genomes]
rs59880935	0.86[AFR][1000 genomes]
rs6499544	1.00[AMR][1000 genomes]
rs6499549	1.00[AMR][1000 genomes]
rs7186536	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7191105	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198387	1.00[AMR][1000 genomes]
rs72799898	1.00[EUR][1000 genomes]
rs73578375	1.00[AMR][1000 genomes]
rs73582271	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582274	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582278	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582282	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582529	1.00[AMR][1000 genomes]
rs73584107	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590035	1.00[AMR][1000 genomes]
rs73590051	1.00[AMR][1000 genomes]
rs74027713	1.00[AMR][1000 genomes]
rs8045275	1.00[AMR][1000 genomes]
rs8048947	1.00[AMR][1000 genomes]
rs8051461	1.00[AMR][1000 genomes]
rs8059131	0.85[AFR][1000 genomes]
rs9673858	1.00[AMR][1000 genomes]
rs9921383	1.00[AMR][1000 genomes]
rs9923154	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9923213	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925225	1.00[AMR][1000 genomes]
rs9928365	1.00[AMR][1000 genomes]
rs9930271	0.82[AFR][1000 genomes]
rs9932715	1.00[AMR][1000 genomes]
rs9932742	1.00[AMR][1000 genomes]
rs9933862	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9937049	1.00[AMR][1000 genomes]
rs9937974	1.00[AMR][1000 genomes]
rs9941356	0.93[AFR][1000 genomes];1.00[AMR][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	chr16:71823400-71838600	Weak transcription	Brain Substantia Nigra	brain
7	chr16:71823400-71839800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr16:71823400-71840000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:71823400-71840000	Weak transcription	Brain Angular Gyrus	brain
10	chr16:71823400-71840000	Weak transcription	Brain Anterior Caudate	brain
11	chr16:71823400-71840000	Weak transcription	K562	blood
12	chr16:71823400-71840200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:71823400-71840200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr16:71823400-71840400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr16:71823400-71840400	Weak transcription	Fetal Brain Male	brain
16	chr16:71823400-71840400	Weak transcription	NH-A	brain
17	chr16:71823400-71841000	Weak transcription	Colonic Mucosa	Colon
18	chr16:71823400-71841400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr16:71823400-71841400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr16:71823400-71841400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr16:71823400-71841600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr16:71823400-71841600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr16:71823400-71841600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:71823400-71841600	Weak transcription	Aorta	Aorta
25	chr16:71823400-71841800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:71823400-71841800	Weak transcription	Esophagus	oesophagus
27	chr16:71823400-71841800	Weak transcription	Pancreas	Pancrea
28	chr16:71823600-71838800	Weak transcription	Hela-S3	cervix
29	chr16:71823600-71839600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr16:71823600-71840000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr16:71823600-71840400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr16:71823800-71840800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr16:71825600-71839600	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:71826400-71839600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr16:71826400-71840200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:71826600-71840400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:71826600-71840400	Weak transcription	Right Ventricle	heart
38	chr16:71827000-71840200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr16:71827000-71841000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr16:71827000-71841000	Weak transcription	Right Atrium	heart
41	chr16:71827000-71841800	Weak transcription	Spleen	Spleen
42	chr16:71827400-71841200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr16:71827600-71840200	Weak transcription	NHEK	skin
44	chr16:71829800-71839600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr16:71829800-71839600	Strong transcription	Fetal Intestine Small	intestine
46	chr16:71830000-71840200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:71830000-71841400	Weak transcription	Thymus	Thymus
48	chr16:71830200-71838600	Weak transcription	NHLF	lung
49	chr16:71830200-71841000	Weak transcription	Fetal Thymus	thymus
50	chr16:71830600-71838600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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