Variant report

Variant	rs72795881
Chromosome Location	chr16:71500229-71500230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:71500215-71500265	HIPEpiC	eye:	n/a
2	chr16:71500215-71500265	GM12891	blood:	n/a
3	chr16:71500215-71500265	AG04449	skin:	fetal
4	chr16:71500215-71500265	HPAEpiC	pulmonary alveolar:	n/a
5	chr16:71500215-71500265	RPTEC	kidney:	n/a
6	chr16:71500215-71500265	AG04450	lung:	fetal
7	chr16:71500215-71500265	HRPEpiC	eye:	n/a
8	chr16:71500215-71500265	AG10803	skin:	n/a
9	chr16:71500215-71500265	CMK	blood:	n/a
10	chr16:71500215-71500265	HCF	heart:	n/a
11	chr16:71500215-71500265	HL-60	blood:	n/a
12	chr16:71500215-71500265	HNPCEpiC	eye:	n/a
13	chr16:71500215-71500265	HAEpiC	amniotic membrane:	n/a
14	chr16:71500215-71500265	HRE	kidney:	n/a
15	chr16:71500215-71500265	PFSK-1	brain:	n/a
16	chr16:71500215-71500265	GM12892	blood:	n/a
17	chr16:71500215-71500265	T-47D	breast:	n/a
18	chr16:71500215-71500265	HUVEC	blood vessel:	n/a
19	chr16:71500215-71500265	MCF-7	breast:	n/a
20	chr16:71500215-71500265	HEEpiC	esophagus:	n/a
21	chr16:71500215-71500265	HCM	heart:	n/a
22	chr16:71500215-71500265	SKMC	muscle:	n/a
23	chr16:71500215-71500265	GM19239	blood:	n/a
24	chr16:71500215-71500265	Hela-S3	cervix:	n/a
25	chr16:71500215-71500265	HEK293	kidney:	embryo
26	chr16:71500215-71500265	SK-N-SH	brain:	n/a
27	chr16:71500215-71500265	IMR90	lung:	fetal
28	chr16:71500215-71500265	BJ	skin:	n/a
29	chr16:71500215-71500265	ProgFib	skin:	n/a
30	chr16:71500215-71500265	AG09309	skin:	n/a
31	chr16:71500215-71500265	K562	blood:	n/a
32	chr16:71500215-71500265	HepG2	liver:	n/a
33	chr16:71500215-71500265	HCPEpiC	choroid plexus:	n/a
34	chr16:71500215-71500265	HRCEpiC	kidney:	n/a
35	chr16:71500215-71500265	PANC-1	pancreas:	n/a
36	chr16:71500215-71500265	A549	lung:	n/a
37	chr16:71500215-71500265	SK-N-SH_RA	brain:	n/a
38	chr16:71500215-71500265	BE2_C	brain:	n/a
39	chr16:71500215-71500265	SAEC	small airway:	n/a
40	chr16:71500215-71500265	AG09319	gingival:	n/a
41	chr16:71500215-71500265	NH-A	brain:	n/a
42	chr16:71500215-71500265	SK-N-MC	brain:	n/a
43	chr16:71500215-71500265	HMEC	breast:	n/a
44	chr16:71500215-71500265	NT2-D1	testis:	n/a
45	chr16:71500215-71500265	H1-hESC	embryonic stem cell:	embryo
46	chr16:71500215-71500265	GM06990	blood:	n/a
47	chr16:71500215-71500265	MCF10A-Er-Src	breast:	n/a
48	chr16:71500215-71500265	Caco-2	colon:	n/a
49	chr16:71500215-71500265	U87	brain:	n/a
50	chr16:71500215-71500265	Hepatocyte	liver:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71499598..71503793-chr16:71515669..71519783,4	K562	blood:
2	chr16:71494022..71496808-chr16:71499163..71501136,2	K562	blood:
3	chr16:71498533..71500835-chr16:71506756..71508900,2	MCF-7	breast:
4	chr16:71497700..71500390-chr16:71504714..71506907,2	K562	blood:
5	chr16:71492607..71498322-chr16:71498324..71506196,11	MCF-7	breast:
6	chr16:71494581..71497726-chr16:71499665..71503210,5	K562	blood:

No data

Variant related genes	Relation type
ZNF23	CpG island
ENSG00000157429	Chromatin interaction
ENSG00000247324	Chromatin interaction
ENSG00000167377	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10468265	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11866859	1.00[ASN][1000 genomes]
rs13336809	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16972266	1.00[ASN][1000 genomes]
rs16972805	1.00[ASN][1000 genomes]
rs16972808	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973000	1.00[ASN][1000 genomes]
rs16973112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973190	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973286	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1804984	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2052873	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3886947	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56222754	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57821244	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59364668	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61171207	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499521	0.84[EUR][1000 genomes]
rs7188021	1.00[ASN][1000 genomes]
rs7197127	1.00[ASN][1000 genomes]
rs72791971	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72791974	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72795864	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795867	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72795869	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797728	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8044168	1.00[ASN][1000 genomes]
rs8049040	1.00[ASN][1000 genomes]
rs8050135	1.00[ASN][1000 genomes]
rs8051439	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8056735	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9940485	1.00[ASN][1000 genomes]
rs9989376	0.91[EUR][1000 genomes]
rs9989377	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72795881	RP11-510M2.10	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71496400-71509400	Weak transcription	Small Intestine	intestine
2	chr16:71496600-71507600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:71496600-71508400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr16:71496600-71508400	Weak transcription	Placenta	Placenta
5	chr16:71496600-71509200	Weak transcription	Fetal Intestine Large	intestine
6	chr16:71496600-71509400	Weak transcription	Colonic Mucosa	Colon
7	chr16:71496600-71509400	Weak transcription	Esophagus	oesophagus
8	chr16:71496600-71509400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr16:71496600-71511400	Weak transcription	Pancreas	Pancrea
10	chr16:71496800-71505000	Weak transcription	Liver	Liver
11	chr16:71496800-71507600	Weak transcription	Ovary	ovary
12	chr16:71496800-71507800	Weak transcription	Fetal Muscle Leg	muscle
13	chr16:71496800-71507800	Weak transcription	Left Ventricle	heart
14	chr16:71496800-71507800	Weak transcription	HSMM	muscle
15	chr16:71496800-71507800	Weak transcription	HSMMtube	muscle
16	chr16:71496800-71508400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr16:71496800-71508600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr16:71496800-71508600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:71496800-71508600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr16:71496800-71508800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr16:71496800-71508800	Weak transcription	Primary T cells from cord blood	blood
22	chr16:71496800-71508800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr16:71496800-71508800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr16:71496800-71508800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr16:71496800-71509000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr16:71496800-71509200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr16:71496800-71509400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr16:71496800-71509400	Weak transcription	Psoas Muscle	Psoas
29	chr16:71496800-71512000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr16:71496800-71512200	Weak transcription	Fetal Intestine Small	intestine
31	chr16:71497000-71503600	Weak transcription	Adipose Nuclei	Adipose
32	chr16:71497000-71504200	Weak transcription	Brain Hippocampus Middle	brain
33	chr16:71497000-71504400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr16:71497000-71504400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr16:71497000-71504600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr16:71497000-71507800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:71497000-71507800	Weak transcription	NHLF	lung
38	chr16:71497000-71508000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:71497000-71508400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr16:71497000-71508600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:71497000-71511800	Weak transcription	Brain Substantia Nigra	brain
42	chr16:71497000-71517400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr16:71497000-71517400	Weak transcription	Fetal Heart	heart
44	chr16:71497000-71517600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr16:71497200-71504600	Weak transcription	Fetal Brain Female	brain
46	chr16:71497200-71504800	Weak transcription	Aorta	Aorta
47	chr16:71497200-71504800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr16:71497200-71504800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr16:71497200-71504800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr16:71497200-71505000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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