Variant report

Variant	rs2928210
Chromosome Location	chr19:21540974-21540975
allele	C/T
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:0)
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	chr19:21540946-21540996	SKMC	muscle:	n/a
2	chr19:21540946-21540996	LNCaP	prostate:	n/a
3	chr19:21540946-21540996	NH-A	brain:	n/a
4	chr19:21540946-21540996	SK-N-SH	brain:	n/a
5	chr19:21540946-21540996	Caco-2	colon:	n/a
6	chr19:21540946-21540996	HCM	heart:	n/a
7	chr19:21540946-21540996	PANC-1	pancreas:	n/a
8	chr19:21540946-21540996	MCF-7	breast:	n/a
9	chr19:21540946-21540996	SK-N-MC	brain:	n/a
10	chr19:21540946-21540996	HL-60	blood:	n/a
11	chr19:21540946-21540996	U87	brain:	n/a
12	chr19:21540946-21540996	CMK	blood:	n/a
13	chr19:21540946-21540996	HMEC	breast:	n/a
14	chr19:21540946-21540996	GM12878	blood:	n/a
15	chr19:21540946-21540996	HEEpiC	esophagus:	n/a
16	chr19:21540946-21540996	GM12892	blood:	n/a
17	chr19:21540946-21540996	HPAEpiC	pulmonary alveolar:	n/a
18	chr19:21540946-21540996	HCPEpiC	choroid plexus:	n/a
19	chr19:21540946-21540996	Jurkat	blood:	n/a
20	chr19:21540946-21540996	AG10803	skin:	n/a
21	chr19:21540946-21540996	HCT-116	colon:	n/a
22	chr19:21540946-21540996	AG09319	gingival:	n/a
23	chr19:21540946-21540996	Hepatocyte	liver:	n/a
24	chr19:21540946-21540996	HIPEpiC	eye:	n/a
25	chr19:21540946-21540996	HepG2	liver:	n/a
26	chr19:21540946-21540996	AG04450	lung:	fetal
27	chr19:21540946-21540996	NT2-D1	testis:	n/a
28	chr19:21540946-21540996	PFSK-1	brain:	n/a
29	chr19:21540946-21540996	GM12891	blood:	n/a
30	chr19:21540946-21540996	SK-N-SH_RA	brain:	n/a
31	chr19:21540946-21540996	ProgFib	skin:	n/a
32	chr19:21540946-21540996	BJ	skin:	n/a
33	chr19:21540946-21540996	AoSMC	blood vessel:	n/a
34	chr19:21540946-21540996	SAEC	small airway:	n/a
35	chr19:21540946-21540996	ECC-1	luminal epithelium:	n/a
36	chr19:21540946-21540996	BE2_C	brain:	n/a
37	chr19:21540946-21540996	K562	blood:	n/a
38	chr19:21540946-21540996	GM06990	blood:	n/a
39	chr19:21540946-21540996	HRPEpiC	eye:	n/a
40	chr19:21540946-21540996	NHDF-neo	bronchial:	n/a
41	chr19:21540946-21540996	H1-hESC	embryonic stem cell:	embryo
42	chr19:21540946-21540996	A549	lung:	n/a
43	chr19:21540946-21540996	HAEpiC	amniotic membrane:	n/a
44	chr19:21540946-21540996	RPTEC	kidney:	n/a
45	chr19:21540946-21540996	IMR90	lung:	fetal
46	chr19:21540946-21540996	AG04449	skin:	fetal
47	chr19:21540946-21540996	HCF	heart:	n/a
48	chr19:21540946-21540996	HRCEpiC	kidney:	n/a
49	chr19:21540946-21540996	HNPCEpiC	eye:	n/a
50	chr19:21540946-21540996	HEK293	kidney:	embryo

No data

Variant related genes	Relation type
ZNF738	CpG island

Extended variants
information (count: 76 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11085443	0.81[EUR][1000 genomes]
rs11671832	0.82[ASN][1000 genomes]
rs12151067	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12151068	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12971724	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12975981	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12981869	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12984238	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1678822	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17618715	1.00[ASN][1000 genomes]
rs17618778	0.80[ASN][1000 genomes]
rs1762580	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17680671	0.89[ASN][1000 genomes]
rs1813234	0.81[EUR][1000 genomes]
rs1827225	0.86[ASN][1000 genomes]
rs2358984	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs28839521	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2914636	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914637	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2928208	0.81[EUR][1000 genomes]
rs34560125	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34875588	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35148123	0.80[ASN][1000 genomes]
rs35578515	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35860067	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs483383	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488125	0.88[EUR][1000 genomes]
rs501647	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504280	0.88[EUR][1000 genomes]
rs509540	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514390	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs531283	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs549882	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552039	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565406	0.83[EUR][1000 genomes]
rs566230	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57055133	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58121117	1.00[ASN][1000 genomes]
rs59617671	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608002	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs617186	0.87[EUR][1000 genomes]
rs62107470	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107538	1.00[ASN][1000 genomes]
rs62109224	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110379	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs635730	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6511228	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs670813	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67723811	0.80[ASN][1000 genomes]
rs685844	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7246684	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7248700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7252873	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7254762	0.89[ASN][1000 genomes]
rs7258086	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73025767	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099863	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102328	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs8103411	0.85[ASN][1000 genomes]
rs8103417	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8105404	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8110470	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8111189	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8113558	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv911416	chr19:21388995-21548211	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv911417	chr19:21388995-21564001	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv963023	chr19:21491992-21570395	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2928210	ZNF738	cis	Adipose Subcutaneous	GTEx
rs2928210	ZNF738	Cis_1M	lymphoblastoid	RTeQTL
rs2928210	CTD-2561J22.5	cis	Esophagus Muscularis	GTEx
rs2928210	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs2928210	CTD-2561J22.5	cis	Thyroid	GTEx
rs2928210	ZNF738	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21536200-21541400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr19:21536200-21541400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr19:21536800-21541200	Weak transcription	Dnd41	blood

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