Variant report

Variant	rs7543347
Chromosome Location	chr1:242218633-242218634
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:1)
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	chr1:242218597-242218647	Hela-S3	cervix:	n/a
2	chr1:242218597-242218647	BJ	skin:	n/a
3	chr1:242218597-242218647	A549	lung:	n/a
4	chr1:242218597-242218647	SK-N-MC	brain:	n/a
5	chr1:242218597-242218647	PFSK-1	brain:	n/a
6	chr1:242218597-242218647	HL-60	blood:	n/a
7	chr1:242218597-242218647	ECC-1	luminal epithelium:	n/a
8	chr1:242218597-242218647	ovcar-3	ovarian:	n/a
9	chr1:242218597-242218647	LNCaP	prostate:	n/a
10	chr1:242218597-242218647	U87	brain:	n/a
11	chr1:242218597-242218647	HEK293	kidney:	embryo
12	chr1:242218597-242218647	CMK	blood:	n/a
13	chr1:242218597-242218647	GM12878	blood:	n/a
14	chr1:242218597-242218647	PrEC	prostate:	n/a
15	chr1:242218597-242218647	PANC-1	pancreas:	n/a
16	chr1:242218597-242218647	HRPEpiC	eye:	n/a
17	chr1:242218597-242218647	GM12892	blood:	n/a
18	chr1:242218597-242218647	GM19239	blood:	n/a
19	chr1:242218597-242218647	Jurkat	blood:	n/a
20	chr1:242218597-242218647	SK-N-SH_RA	brain:	n/a
21	chr1:242218597-242218647	GM06990	blood:	n/a
22	chr1:242218597-242218647	GM12891	blood:	n/a
23	chr1:242218597-242218647	AG04450	lung:	fetal
24	chr1:242218597-242218647	HUVEC	blood vessel:	n/a
25	chr1:242218597-242218647	T-47D	breast:	n/a
26	chr1:242218597-242218647	NHBE	bronchial:	n/a
27	chr1:242218597-242218647	AG09309	skin:	n/a
28	chr1:242218597-242218647	AG04449	skin:	fetal
29	chr1:242218597-242218647	SKMC	muscle:	n/a
30	chr1:242218597-242218647	HRCEpiC	kidney:	n/a
31	chr1:242218597-242218647	SAEC	small airway:	n/a
32	chr1:242218597-242218647	HEEpiC	esophagus:	n/a
33	chr1:242218597-242218647	BE2_C	brain:	n/a
34	chr1:242218597-242218647	HNPCEpiC	eye:	n/a
35	chr1:242218597-242218647	HepG2	liver:	n/a
36	chr1:242218597-242218647	H1-hESC	embryonic stem cell:	embryo
37	chr1:242218597-242218647	HCM	heart:	n/a
38	chr1:242218597-242218647	NHDF-neo	bronchial:	n/a
39	chr1:242218597-242218647	AG10803	skin:	n/a
40	chr1:242218597-242218647	HCF	heart:	n/a
41	chr1:242218597-242218647	NT2-D1	testis:	n/a
42	chr1:242218597-242218647	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:242218597-242218647	MCF-7	breast:	n/a
44	chr1:242218597-242218647	Hepatocyte	liver:	n/a
45	chr1:242218597-242218647	AG09319	gingival:	n/a
46	chr1:242218597-242218647	K562	blood:	n/a
47	chr1:242218597-242218647	AoSMC	blood vessel:	n/a
48	chr1:242218597-242218647	IMR90	lung:	fetal
49	chr1:242218597-242218647	HIPEpiC	eye:	n/a
50	chr1:242218597-242218647	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:242217500..242220203-chr1:242220898..242222680,2	K562	blood:

No data

Variant related genes	Relation type
TUBB8P6	CpG island

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10157604	0.94[AFR][1000 genomes]
rs10159085	0.94[AFR][1000 genomes]
rs10737871	0.94[AFR][1000 genomes]
rs10754743	0.94[AFR][1000 genomes]
rs10754744	0.94[AFR][1000 genomes]
rs10754745	0.94[AFR][1000 genomes]
rs10803009	1.00[AFR][1000 genomes]
rs10803011	1.00[AFR][1000 genomes]
rs12078997	0.94[AFR][1000 genomes]
rs1519903	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1810357	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1832943	0.89[AFR][1000 genomes]
rs2139471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2139472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2176765	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2176766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4554709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658402	0.94[AFR][1000 genomes]
rs56098544	1.00[AMR][1000 genomes]
rs56313862	1.00[AMR][1000 genomes]
rs56654625	1.00[AMR][1000 genomes]
rs57210464	1.00[AMR][1000 genomes]
rs60423113	1.00[AMR][1000 genomes]
rs6429330	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6659309	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6664325	1.00[AFR][1000 genomes]
rs6668482	1.00[AMR][1000 genomes]
rs6678852	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6683254	1.00[AFR][1000 genomes]
rs6690719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6691394	1.00[AFR][1000 genomes]
rs6695174	1.00[AMR][1000 genomes]
rs74150804	1.00[AMR][1000 genomes]
rs74150805	1.00[AMR][1000 genomes]
rs74150806	1.00[AMR][1000 genomes]
rs74150808	1.00[AMR][1000 genomes]
rs74150815	1.00[AMR][1000 genomes]
rs74150817	1.00[AMR][1000 genomes]
rs74150825	1.00[AMR][1000 genomes]
rs74150828	1.00[AMR][1000 genomes]
rs74150835	1.00[AMR][1000 genomes]
rs74153319	1.00[AMR][1000 genomes]
rs74153339	1.00[AMR][1000 genomes]
rs74153345	1.00[AMR][1000 genomes]
rs74153346	1.00[AMR][1000 genomes]
rs74153352	1.00[AMR][1000 genomes]
rs74153361	1.00[AMR][1000 genomes]
rs7537433	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs908968	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv2750830	chr1:242025098-242303357	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2750831	chr1:242025098-242332959	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1002309	chr1:242042242-242295635	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv869647	chr1:242141471-242248271	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv508703	chr1:242146940-242252101	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv468672	chr1:242201247-242555949	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv470788	chr1:242201247-242555949	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv549462	chr1:242201247-242555949	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:242217200-242218800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:242217600-242218800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:242217600-242220200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:242218200-242218800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:242218600-242218800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:242218600-242219000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:242218600-242219400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:242218600-242220200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:242218600-242220400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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