Variant report

Variant	rs34324628
Chromosome Location	chr8:9414503-9414504
allele	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	POLR2A	chr8:9412691-9414855	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr8:9412948-9414684	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr8:9412765-9414770	IMR90	lung:	n/a	n/a
4	MAZ	chr8:9413002-9414598	IMR90	lung:	n/a	n/a
5	POLR2A	chr8:9414388-9414568	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:9413729-9414512	U87	brain:	n/a	n/a
7	CEBPB	chr8:9413385-9414504	IMR90	lung:	n/a	n/a
8	POLR2A	chr8:9412748-9414570	GM12891	blood:	n/a	n/a
9	HCFC1	chr8:9412542-9414660	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr8:9412888-9414645	PBDE	blood:	n/a	n/a
11	POLR2A	chr8:9412704-9414676	SK-N-MC	brain:	n/a	n/a
12	MXI1	chr8:9413937-9414504	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr8:9412958-9414654	IMR90	lung:	n/a	n/a
14	REST	chr8:9412934-9414545	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr8:9413950-9414672	HepG2	liver:	n/a	n/a
16	POLR2A	chr8:9412941-9414564	K562	blood:	n/a	n/a
17	POLR2A	chr8:9412993-9414592	GM12878	blood:	n/a	n/a
18	MXI1	chr8:9411917-9414938	SK-N-SH	brain:	n/a	n/a
19	CHD1	chr8:9413009-9414586	GM12878	blood:	n/a	n/a
20	CHD1	chr8:9413453-9414521	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr8:9412916-9415176	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr8:9412889-9414703	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8858968..8861271-chr8:9414006..9415764,2	K562	blood:

Variant related genes	Relation type
ENSG00000272267	TF binding region
ENSG00000104626	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10087012	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10087166	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10088969	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10098758	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10101953	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10102030	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10103426	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10111980	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10503380	0.81[EUR][1000 genomes]
rs11984585	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11985349	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11995920	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12541409	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12543534	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12548306	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12675476	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12675511	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12676898	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12681719	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13271097	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17150237	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28622033	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28668310	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs33945943	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34206126	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34790717	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128199	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4840427	0.82[ASN][1000 genomes]
rs4840428	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4841173	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4841174	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4841175	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57453266	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58238328	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61551896	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62493868	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6601330	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6601331	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6601332	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6601333	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6601334	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6601335	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6601336	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6601337	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66516712	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67706102	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6980831	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6986386	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6989126	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6990097	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6990590	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7013500	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73193784	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7814014	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7815817	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7821559	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822548	0.87[AMR][1000 genomes]
rs7834823	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7844450	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7846140	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9329202	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9329203	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9644677	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1033031	chr8:9310266-9418941	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer 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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9412200-9414600	Active TSS	Fetal Brain Female	brain
2	chr8:9412200-9415200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:9412200-9415400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr8:9412200-9416800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:9412400-9414600	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr8:9412400-9414600	Active TSS	NH-A	brain
7	chr8:9412400-9415000	Active TSS	HSMM	muscle
8	chr8:9412400-9415400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:9412400-9415400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:9412600-9414600	Active TSS	K562	blood
11	chr8:9412600-9415000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr8:9412600-9415400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr8:9412600-9415400	Active TSS	HMEC	breast
14	chr8:9412600-9415600	Active TSS	NHLF	lung
15	chr8:9412600-9415800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:9412600-9415800	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:9412600-9416200	Active TSS	NHDF-Ad	bronchial
18	chr8:9412600-9417000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:9412800-9414600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr8:9412800-9414600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:9412800-9414600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:9412800-9414600	Active TSS	Aorta	Aorta
23	chr8:9412800-9414600	Active TSS	Fetal Intestine Large	intestine
24	chr8:9412800-9414600	Active TSS	Fetal Lung	lung
25	chr8:9412800-9414800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:9412800-9414800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:9412800-9414800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:9412800-9414800	Active TSS	Colonic Mucosa	Colon
29	chr8:9412800-9414800	Active TSS	Ovary	ovary
30	chr8:9412800-9414800	Active TSS	Psoas Muscle	Psoas
31	chr8:9412800-9414800	Active TSS	Right Ventricle	heart
32	chr8:9412800-9415000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr8:9412800-9415000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:9412800-9415000	Active TSS	Brain Substantia Nigra	brain
35	chr8:9412800-9415000	Active TSS	Fetal Muscle Leg	muscle
36	chr8:9412800-9415400	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr8:9412800-9415400	Active TSS	Fetal Intestine Small	intestine
38	chr8:9412800-9415400	Active TSS	GM12878-XiMat	blood
39	chr8:9412800-9415600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:9412800-9415600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:9412800-9416200	Active TSS	HSMMtube	muscle
42	chr8:9413000-9414600	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr8:9413000-9414600	Active TSS	Osteobl	bone
44	chr8:9413000-9414800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:9413000-9414800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:9413000-9414800	Active TSS	Left Ventricle	heart
47	chr8:9413000-9414800	Active TSS	Placenta Amnion	Placenta Amnion
48	chr8:9413000-9415000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:9413000-9415200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:9413000-9415400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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