Variant report

Variant	rs7823429
Chromosome Location	chr8:42548393-42548394
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:42547319-42548727	SK-N-SH	brain:	n/a	chr8:42547807-42547821 chr8:42547809-42547822 chr8:42547806-42547825 chr8:42547811-42547823 chr8:42548195-42548208 chr8:42547811-42547821 chr8:42547810-42547819
2	CHD1	chr8:42547427-42548396	IMR90	lung:	n/a	n/a
3	CTCF	chr8:42547377-42548775	SK-N-SH	brain:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42548549-42548562 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
4	CTCF	chr8:42547378-42548497	A549	lung:	n/a	chr8:42547805-42547823 chr8:42547808-42547821 chr8:42547807-42547828 chr8:42547810-42547820 chr8:42547808-42547817 chr8:42547806-42547822
5	SMC3	chr8:42547305-42548731	SK-N-SH	brain:	n/a	chr8:42548548-42548562 chr8:42547807-42547814 chr8:42547807-42547821
6	JUN	chr8:42547382-42548546	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42547195..42550116-chr8:42660331..42662145,2	K562	blood:
2	chr8:42546623..42549330-chr8:42752023..42754724,2	K562	blood:

Variant related genes	Relation type
CHRNB3	TF binding region
ENSG00000120925	Chromatin interaction
ENSG00000168172	Chromatin interaction

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10101564	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10101973	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104038	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10112455	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439675	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1451241	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1451242	0.97[EUR][1000 genomes]
rs16891521	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16891530	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28413944	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28528998	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28594607	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28616109	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28621985	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28680472	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28809511	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28848209	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28849085	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28850974	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4952	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4953	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55817013	0.93[EUR][1000 genomes]
rs57435730	0.93[EUR][1000 genomes]
rs57499403	0.93[EUR][1000 genomes]
rs57521649	0.93[EUR][1000 genomes]
rs58205452	0.93[EUR][1000 genomes]
rs58279443	0.93[EUR][1000 genomes]
rs59521406	0.93[EUR][1000 genomes]
rs59569717	0.93[EUR][1000 genomes]
rs59689170	0.84[EUR][1000 genomes]
rs59705185	0.93[EUR][1000 genomes]
rs60926557	0.93[EUR][1000 genomes]
rs61601101	0.87[EUR][1000 genomes]
rs62515862	0.93[EUR][1000 genomes]
rs62515865	0.93[EUR][1000 genomes]
rs62515867	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62515871	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62515872	0.84[EUR][1000 genomes]
rs62515873	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62516708	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62516710	0.90[EUR][1000 genomes]
rs62516711	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62516713	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62516715	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62516718	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62516719	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62516738	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62516739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62516740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62516741	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62516742	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62516743	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62516744	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62516745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62516746	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62516747	1.00[EUR][1000 genomes]
rs62516748	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62516749	1.00[EUR][1000 genomes]
rs62516750	1.00[EUR][1000 genomes]
rs62516751	1.00[EUR][1000 genomes]
rs62516752	1.00[EUR][1000 genomes]
rs62516753	1.00[EUR][1000 genomes]
rs62516754	1.00[EUR][1000 genomes]
rs62516755	1.00[EUR][1000 genomes]
rs62516756	1.00[EUR][1000 genomes]
rs62516757	1.00[EUR][1000 genomes]
rs62516758	1.00[EUR][1000 genomes]
rs62516759	1.00[EUR][1000 genomes]
rs62518160	1.00[EUR][1000 genomes]
rs62518180	1.00[EUR][1000 genomes]
rs62518181	1.00[EUR][1000 genomes]
rs62518182	1.00[EUR][1000 genomes]
rs62518183	1.00[EUR][1000 genomes]
rs62518184	0.93[EUR][1000 genomes]
rs62518185	1.00[EUR][1000 genomes]
rs62518186	1.00[EUR][1000 genomes]
rs62518187	1.00[EUR][1000 genomes]
rs62518188	1.00[EUR][1000 genomes]
rs62518189	1.00[EUR][1000 genomes]
rs62518190	1.00[EUR][1000 genomes]
rs62518191	0.93[EUR][1000 genomes]
rs62518192	0.93[EUR][1000 genomes]
rs62518193	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518194	0.93[EUR][1000 genomes]
rs62518195	0.93[EUR][1000 genomes]
rs62518196	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518197	0.89[EUR][1000 genomes]
rs62518198	0.89[EUR][1000 genomes]
rs62518199	0.89[EUR][1000 genomes]
rs62518200	0.93[EUR][1000 genomes]
rs62518201	0.93[EUR][1000 genomes]
rs62518202	0.93[EUR][1000 genomes]
rs62518203	0.93[EUR][1000 genomes]
rs62518204	0.93[EUR][1000 genomes]
rs62518205	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518206	0.93[EUR][1000 genomes]
rs62518207	0.93[EUR][1000 genomes]
rs62518208	0.93[EUR][1000 genomes]
rs62518209	0.93[EUR][1000 genomes]
rs62518210	0.93[EUR][1000 genomes]
rs62518211	0.93[EUR][1000 genomes]
rs62518212	0.93[EUR][1000 genomes]
rs62518213	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518215	0.93[EUR][1000 genomes]
rs62518216	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62518217	0.93[EUR][1000 genomes]
rs62518218	0.93[EUR][1000 genomes]
rs62518219	0.86[EUR][1000 genomes]
rs62518220	0.82[EUR][1000 genomes]
rs62518226	0.93[EUR][1000 genomes]
rs62518227	0.93[EUR][1000 genomes]
rs62518228	0.93[EUR][1000 genomes]
rs62518229	0.93[EUR][1000 genomes]
rs6987323	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6997994	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7000956	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7002613	0.93[EUR][1000 genomes]
rs7002873	0.93[EUR][1000 genomes]
rs7008048	0.93[EUR][1000 genomes]
rs7008076	0.93[EUR][1000 genomes]
rs7015920	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7815274	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7818409	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7818711	0.90[EUR][1000 genomes]
rs7824160	1.00[CEU][hapmap]
rs7824783	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7832104	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7838246	0.93[EUR][1000 genomes]
rs7839973	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7844824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9298625	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9298626	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9298627	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1030451	chr8:42543326-42618390	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42544000-42561200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:42547400-42548400	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr8:42547400-42548400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:42547400-42548600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:42547600-42548400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:42547600-42548400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:42547600-42548400	Enhancers	Stomach Mucosa	stomach
8	chr8:42547600-42548600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:42547600-42548600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr8:42547600-42548600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr8:42547600-42548600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:42547600-42548600	Enhancers	A549	lung
13	chr8:42547600-42548800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr8:42547600-42549000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:42547800-42548400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr8:42547800-42548600	Enhancers	HSMM	muscle
17	chr8:42547800-42548800	Enhancers	GM12878-XiMat	blood
18	chr8:42548000-42548400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:42548000-42548400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr8:42548000-42548400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr8:42548000-42548600	Enhancers	HUVEC	blood vessel
22	chr8:42548000-42549000	Enhancers	Primary T cells from cord blood	blood
23	chr8:42548000-42552400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:42548200-42548400	Enhancers	Hela-S3	cervix
25	chr8:42548200-42548600	Enhancers	Stomach Smooth Muscle	stomach
26	chr8:42548200-42548600	Bivalent Enhancer	HepG2	liver
27	chr8:42548200-42549600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:42548200-42553400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:42548200-42553600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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