Variant report

Variant	rs12935106
Chromosome Location	chr16:71825851-71825852
allele	C/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: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	chr16:71823251..71826852-chr16:71839928..71843333,4	K562	blood:
2	chr16:71824921..71831111-chr16:71841037..71844179,8	MCF-7	breast:
3	chr16:71825737..71827920-chr16:71925001..71926624,2	MCF-7	breast:
4	chr16:71821888..71825986-chr16:71827605..71831800,6	MCF-7	breast:
5	chr16:71820044..71826852-chr16:71835906..71843775,16	K562	blood:
6	chr16:71823922..71825442-chr16:71825823..71828696,2	K562	blood:
7	chr16:71822504..71826095-chr16:71827196..71830655,3	K562	blood:
8	chr16:71820240..71822383-chr16:71824559..71826827,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11075903	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11640830	0.85[ASN][1000 genomes]
rs11641113	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11642526	0.92[ASN][1000 genomes]
rs11642529	1.00[ASN][1000 genomes]
rs11645704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645725	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11648483	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11861296	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149460	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12445161	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12447094	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12448022	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12919271	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12928939	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12933007	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34053338	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34358623	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34531032	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34731378	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34998650	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35706035	0.89[ASN][1000 genomes]
rs71386932	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197104	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7202840	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8049163	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8051878	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8057568	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	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:125 , 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	chr16:71793200-71830400	Weak transcription	Fetal Heart	heart
3	chr16:71808000-71829800	Weak transcription	NHLF	lung
4	chr16:71808400-71828800	Weak transcription	HSMMtube	muscle
5	chr16:71811800-71826600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:71816000-71840400	Weak transcription	Fetal Kidney	kidney
7	chr16:71821400-71826200	Weak transcription	Fetal Intestine Small	intestine
8	chr16:71821400-71840000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr16:71823200-71826000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:71823200-71826200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:71823200-71829000	Weak transcription	Colon Smooth Muscle	Colon
12	chr16:71823200-71829800	Weak transcription	Psoas Muscle	Psoas
13	chr16:71823200-71830000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr16:71823200-71832200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:71823200-71835200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr16:71823200-71840400	Weak transcription	HUVEC	blood vessel
17	chr16:71823200-71841400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:71823400-71826000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:71823400-71826000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:71823400-71826000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr16:71823400-71826000	Weak transcription	Thymus	Thymus
22	chr16:71823400-71826400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:71823400-71826400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:71823400-71826400	Weak transcription	Fetal Stomach	stomach
25	chr16:71823400-71826400	Weak transcription	Right Ventricle	heart
26	chr16:71823400-71826600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr16:71823400-71826600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr16:71823400-71826800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:71823400-71826800	Weak transcription	Lung	lung
30	chr16:71823400-71827200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:71823400-71827200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr16:71823400-71828200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:71823400-71828600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr16:71823400-71829600	Weak transcription	Placenta	Placenta
35	chr16:71823400-71829800	Weak transcription	Fetal Lung	lung
36	chr16:71823400-71829800	Weak transcription	Fetal Thymus	thymus
37	chr16:71823400-71830000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:71823400-71830200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr16:71823400-71831600	Weak transcription	Fetal Brain Female	brain
40	chr16:71823400-71832000	Weak transcription	Gastric	stomach
41	chr16:71823400-71833000	Weak transcription	HMEC	breast
42	chr16:71823400-71833200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr16:71823400-71834800	Weak transcription	Small Intestine	intestine
44	chr16:71823400-71836000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr16:71823400-71836800	Weak transcription	Brain Germinal Matrix	brain
46	chr16:71823400-71837400	Weak transcription	HSMM	muscle
47	chr16:71823400-71838600	Weak transcription	Brain Substantia Nigra	brain
48	chr16:71823400-71839800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr16:71823400-71840000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:71823400-71840000	Weak transcription	Brain Angular Gyrus	brain

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