Variant report

Variant	rs34998650
Chromosome Location	chr16:71829329-71829330
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: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	chr16:71822504..71826095-chr16:71827196..71830655,3	K562	blood:
2	chr16:71821888..71825986-chr16:71827605..71831800,6	MCF-7	breast:
3	chr16:71819159..71821764-chr16:71828955..71831636,2	K562	blood:
4	chr16:71824921..71831111-chr16:71841037..71844179,8	MCF-7	breast:
5	chr16:71828819..71831734-chr16:71916016..71919013,3	MCF-7	breast:
6	chr16:71828963..71831698-chr16:71869677..71872255,2	MCF-7	breast:
7	chr16:71826988..71830438-chr16:71831436..71833598,3	K562	blood:
8	chr16:71828373..71830356-chr16:71879669..71881678,2	MCF-7	breast:
9	chr16:71828587..71830116-chr16:71837179..71839445,2	MCF-7	breast:
10	chr16:71827635..71829503-chr16:71836408..71838794,2	K562	blood:
11	chr16:71809920..71813337-chr16:71827529..71832113,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261765	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000224470	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	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11640830	0.85[ASN][1000 genomes]
rs11641113	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11642526	0.92[ASN][1000 genomes]
rs11642529	1.00[ASN][1000 genomes]
rs11645704	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645725	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11648483	0.85[ASN][1000 genomes]
rs11861296	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149460	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12445161	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12447094	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12448022	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12919271	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12928939	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12933007	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12935106	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34053338	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34358623	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34531032	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34731378	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35706035	0.89[ASN][1000 genomes]
rs71386932	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197104	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7202840	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8049163	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8051878	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8057568	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[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:124 , 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	chr16:71816000-71840400	Weak transcription	Fetal Kidney	kidney
5	chr16:71821400-71840000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:71823200-71829800	Weak transcription	Psoas Muscle	Psoas
7	chr16:71823200-71830000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr16:71823200-71832200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr16:71823200-71835200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr16:71823200-71840400	Weak transcription	HUVEC	blood vessel
11	chr16:71823200-71841400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:71823400-71829600	Weak transcription	Placenta	Placenta
13	chr16:71823400-71829800	Weak transcription	Fetal Lung	lung
14	chr16:71823400-71829800	Weak transcription	Fetal Thymus	thymus
15	chr16:71823400-71830000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:71823400-71830200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:71823400-71831600	Weak transcription	Fetal Brain Female	brain
18	chr16:71823400-71832000	Weak transcription	Gastric	stomach
19	chr16:71823400-71833000	Weak transcription	HMEC	breast
20	chr16:71823400-71833200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:71823400-71834800	Weak transcription	Small Intestine	intestine
22	chr16:71823400-71836000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr16:71823400-71836800	Weak transcription	Brain Germinal Matrix	brain
24	chr16:71823400-71837400	Weak transcription	HSMM	muscle
25	chr16:71823400-71838600	Weak transcription	Brain Substantia Nigra	brain
26	chr16:71823400-71839800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr16:71823400-71840000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:71823400-71840000	Weak transcription	Brain Angular Gyrus	brain
29	chr16:71823400-71840000	Weak transcription	Brain Anterior Caudate	brain
30	chr16:71823400-71840000	Weak transcription	K562	blood
31	chr16:71823400-71840200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr16:71823400-71840200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr16:71823400-71840400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr16:71823400-71840400	Weak transcription	Fetal Brain Male	brain
35	chr16:71823400-71840400	Weak transcription	NH-A	brain
36	chr16:71823400-71841000	Weak transcription	Colonic Mucosa	Colon
37	chr16:71823400-71841400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr16:71823400-71841400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr16:71823400-71841400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr16:71823400-71841600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr16:71823400-71841600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr16:71823400-71841600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:71823400-71841600	Weak transcription	Aorta	Aorta
44	chr16:71823400-71841800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:71823400-71841800	Weak transcription	Esophagus	oesophagus
46	chr16:71823400-71841800	Weak transcription	Pancreas	Pancrea
47	chr16:71823600-71829800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr16:71823600-71830000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:71823600-71838800	Weak transcription	Hela-S3	cervix
50	chr16:71823600-71839600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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