Variant report

Variant	rs72849350
Chromosome Location	chr6:37784603-37784604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr6:37784399-37784843	HepG2	liver:	n/a	n/a
2	CUX1	chr6:37784573-37784640	K562	blood:	n/a	n/a
3	YY1	chr6:37784320-37784678	HepG2	liver:	n/a	n/a
4	FOXA1	chr6:37784308-37784866	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:37784562-37784833	HepG2	liver:	n/a	n/a
6	FOXA2	chr6:37784386-37784813	HepG2	liver:	n/a	n/a
7	FOXA1	chr6:37784330-37784759	HepG2	liver:	n/a	n/a
8	FOXA1	chr6:37784269-37784784	HepG2	liver:	n/a	n/a
9	FOXA2	chr6:37784045-37785147	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:37784591-37784641	GM12892	blood:	n/a
2	chr6:37784591-37784641	Jurkat	blood:	n/a
3	chr6:37784591-37784641	AG10803	skin:	n/a
4	chr6:37784591-37784641	Hela-S3	cervix:	n/a
5	chr6:37784591-37784641	BE2_C	brain:	n/a
6	chr6:37784591-37784641	LNCaP	prostate:	n/a
7	chr6:37784591-37784641	BJ	skin:	n/a
8	chr6:37784591-37784641	HEEpiC	esophagus:	n/a
9	chr6:37784591-37784641	HRPEpiC	eye:	n/a
10	chr6:37784591-37784641	HAEpiC	amniotic membrane:	n/a
11	chr6:37784591-37784641	AG04450	lung:	fetal
12	chr6:37784591-37784641	PANC-1	pancreas:	n/a
13	chr6:37784591-37784641	HepG2	liver:	n/a
14	chr6:37784591-37784641	PFSK-1	brain:	n/a
15	chr6:37784591-37784641	ECC-1	luminal epithelium:	n/a
16	chr6:37784591-37784641	SKMC	muscle:	n/a
17	chr6:37784591-37784641	Caco-2	colon:	n/a
18	chr6:37784591-37784641	A549	lung:	n/a
19	chr6:37784591-37784641	NHDF-neo	bronchial:	n/a
20	chr6:37784591-37784641	HEK293	kidney:	embryo
21	chr6:37784591-37784641	HCPEpiC	choroid plexus:	n/a
22	chr6:37784591-37784641	GM12891	blood:	n/a
23	chr6:37784591-37784641	SK-N-SH	brain:	n/a
24	chr6:37784591-37784641	GM12878	blood:	n/a
25	chr6:37784591-37784641	RPTEC	kidney:	n/a
26	chr6:37784591-37784641	HIPEpiC	eye:	n/a
27	chr6:37784591-37784641	SK-N-MC	brain:	n/a
28	chr6:37784591-37784641	K562	blood:	n/a
29	chr6:37784591-37784641	U87	brain:	n/a
30	chr6:37784591-37784641	GM06990	blood:	n/a
31	chr6:37784591-37784641	HMEC	breast:	n/a
32	chr6:37784591-37784641	AoSMC	blood vessel:	n/a
33	chr6:37784591-37784641	PrEC	prostate:	n/a
34	chr6:37784591-37784641	Hepatocyte	liver:	n/a
35	chr6:37784591-37784641	AG09309	skin:	n/a
36	chr6:37784591-37784641	HL-60	blood:	n/a
37	chr6:37784591-37784641	AG09319	gingival:	n/a
38	chr6:37784591-37784641	ovcar-3	ovarian:	n/a
39	chr6:37784591-37784641	HRCEpiC	kidney:	n/a
40	chr6:37784591-37784641	HCF	heart:	n/a
41	chr6:37784591-37784641	MCF10A-Er-Src	breast:	n/a
42	chr6:37784591-37784641	HCT-116	colon:	n/a
43	chr6:37784591-37784641	NB4	blood:	n/a
44	chr6:37784591-37784641	ProgFib	skin:	n/a
45	chr6:37784591-37784641	GM19239	blood:	n/a
46	chr6:37784591-37784641	HCM	heart:	n/a
47	chr6:37784591-37784641	HNPCEpiC	eye:	n/a
48	chr6:37784591-37784641	NHBE	bronchial:	n/a
49	chr6:37784591-37784641	NT2-D1	testis:	n/a
50	chr6:37784591-37784641	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr6:37772786..37776209-chr6:37782926..37786197,4	K562	blood:
2	chr6:37670172..37672824-chr6:37782516..37784751,2	K562	blood:
3	chr6:37782550..37785010-chr6:37814396..37816416,2	K562	blood:

No data

Variant related genes	Relation type
ZFAND3	TF binding region
ZFAND3	CpG island

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11544071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11753390	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11753809	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11755592	0.83[EUR][1000 genomes]
rs11757086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757622	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11757695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759754	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16890175	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17512095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17641690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17648097	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17648426	0.82[EUR][1000 genomes]
rs17648634	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17648699	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2036124	0.83[EUR][1000 genomes]
rs55753048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56093219	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56100831	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56136126	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57416513	1.00[ASN][1000 genomes]
rs60672298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60943435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60977329	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61125348	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61521259	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61705055	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67979687	0.93[ASN][1000 genomes]
rs68148876	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6909008	0.93[ASN][1000 genomes]
rs6910601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849339	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72849341	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72849354	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72849369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850806	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72850831	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72850855	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72850856	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72850871	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72850884	1.00[AFR][1000 genomes]
rs72850893	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7739801	0.80[EUR][1000 genomes]
rs7747199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756261	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7767466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs994530	0.80[EUR][1000 genomes];0.85[ASN][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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37776000-37785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:37776400-37785800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:37777200-37786000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:37781400-37785800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr6:37781400-37785800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr6:37783600-37784800	Weak transcription	Fetal Kidney	kidney
7	chr6:37783600-37785200	Enhancers	HSMMtube	muscle
8	chr6:37783800-37784800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:37783800-37785800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:37783800-37785800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:37784400-37784800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:37784400-37784800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:37784400-37785000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:37784400-37785400	Weak transcription	Psoas Muscle	Psoas
15	chr6:37784400-37785800	Enhancers	Liver	Liver
16	chr6:37784400-37785800	Enhancers	Fetal Lung	lung
17	chr6:37784400-37785800	Enhancers	K562	blood
18	chr6:37784600-37785000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:37784600-37785600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:37784600-37785800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:37784600-37785800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:37784600-37786000	Flanking Active TSS	HepG2	liver

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