Variant report

Variant	rs73657847
Chromosome Location	chr8:3269997-3269998
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: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	chr8:3269952-3270002	AG04449	skin:	fetal
2	chr8:3269952-3270002	H1-hESC	embryonic stem cell:	embryo
3	chr8:3269952-3270002	AG10803	skin:	n/a
4	chr8:3269952-3270002	SKMC	muscle:	n/a
5	chr8:3269952-3270002	HepG2	liver:	n/a
6	chr8:3269952-3270002	SK-N-SH	brain:	n/a
7	chr8:3269952-3270002	AG04450	lung:	fetal
8	chr8:3269952-3270002	HCPEpiC	choroid plexus:	n/a
9	chr8:3269952-3270002	HPAEpiC	pulmonary alveolar:	n/a
10	chr8:3269952-3270002	HRPEpiC	eye:	n/a
11	chr8:3269952-3270002	Jurkat	blood:	n/a
12	chr8:3269952-3270002	Hela-S3	cervix:	n/a
13	chr8:3269952-3270002	PANC-1	pancreas:	n/a
14	chr8:3269952-3270002	NHBE	bronchial:	n/a
15	chr8:3269952-3270002	SK-N-SH_RA	brain:	n/a
16	chr8:3269952-3270002	HL-60	blood:	n/a
17	chr8:3269952-3270002	GM12892	blood:	n/a
18	chr8:3269952-3270002	NHDF-neo	bronchial:	n/a
19	chr8:3269952-3270002	T-47D	breast:	n/a
20	chr8:3269952-3270002	RPTEC	kidney:	n/a
21	chr8:3269952-3270002	CMK	blood:	n/a
22	chr8:3269952-3270002	A549	lung:	n/a
23	chr8:3269952-3270002	NB4	blood:	n/a
24	chr8:3269952-3270002	ECC-1	luminal epithelium:	n/a
25	chr8:3269952-3270002	NT2-D1	testis:	n/a
26	chr8:3269952-3270002	HCM	heart:	n/a
27	chr8:3269952-3270002	GM19239	blood:	n/a
28	chr8:3269952-3270002	BE2_C	brain:	n/a
29	chr8:3269952-3270002	HIPEpiC	eye:	n/a
30	chr8:3269952-3270002	LNCaP	prostate:	n/a
31	chr8:3269952-3270002	HCT-116	colon:	n/a
32	chr8:3269952-3270002	HMEC	breast:	n/a
33	chr8:3269952-3270002	HNPCEpiC	eye:	n/a
34	chr8:3269952-3270002	Hepatocyte	liver:	n/a
35	chr8:3269952-3270002	K562	blood:	n/a
36	chr8:3269952-3270002	IMR90	lung:	fetal
37	chr8:3269952-3270002	ProgFib	skin:	n/a
38	chr8:3269952-3270002	U87	brain:	n/a
39	chr8:3269952-3270002	AoSMC	blood vessel:	n/a
40	chr8:3269952-3270002	AG09309	skin:	n/a
41	chr8:3269952-3270002	ovcar-3	ovarian:	n/a
42	chr8:3269952-3270002	GM12878	blood:	n/a
43	chr8:3269952-3270002	Caco-2	colon:	n/a
44	chr8:3269952-3270002	PrEC	prostate:	n/a
45	chr8:3269952-3270002	HRE	kidney:	n/a
46	chr8:3269952-3270002	HEEpiC	esophagus:	n/a
47	chr8:3269952-3270002	MCF10A-Er-Src	breast:	n/a
48	chr8:3269952-3270002	HUVEC	blood vessel:	n/a
49	chr8:3269952-3270002	BJ	skin:	n/a
50	chr8:3269952-3270002	SAEC	small airway:	n/a

No data

Variant related genes	Relation type
CSMD1	CpG island

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10097933	0.84[EUR][1000 genomes]
rs12546510	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12546535	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13281086	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17066034	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17066035	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17066037	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17066040	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17066044	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17066046	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17066051	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17066055	0.84[EUR][1000 genomes]
rs17066057	0.93[ASN][1000 genomes]
rs17066062	0.84[EUR][1000 genomes]
rs28667319	0.84[EUR][1000 genomes]
rs55642600	0.84[EUR][1000 genomes]
rs55748924	0.84[EUR][1000 genomes]
rs56284885	0.84[EUR][1000 genomes]
rs56372721	0.84[EUR][1000 genomes]
rs58454178	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58959537	0.84[EUR][1000 genomes]
rs61267782	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73657843	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73657844	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73657848	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73657849	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73657850	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73657851	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73657852	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73657853	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73657855	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73657856	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73657857	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73657858	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73657862	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033589	chr8:2498609-3305100	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1018407	chr8:2724294-3305100	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv915568	chr8:2725834-3291312	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025408	chr8:2733604-3302447	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1025209	chr8:3067655-3754882	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1026643	chr8:3077210-3277827	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1026998	chr8:3102679-3593264	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1034076	chr8:3168033-3989947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv539351	chr8:3168033-3989947	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1017164	chr8:3174168-4026811	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv539352	chr8:3174168-4026811	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1018218	chr8:3180287-4089011	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3257000-3270000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3269800-3270000	Enhancers	Brain Cingulate Gyrus	brain
3	chr8:3269800-3270000	Enhancers	Brain Hippocampus Middle	brain
4	chr8:3269800-3270000	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr8:3269800-3270400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:3269800-3270800	Enhancers	Brain Angular Gyrus	brain
7	chr8:3269800-3271000	Enhancers	Brain Substantia Nigra	brain
8	chr8:3269800-3271000	Enhancers	Fetal Brain Male	brain
9	chr8:3269800-3271200	Enhancers	Brain Anterior Caudate	brain

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