Variant report

Variant	rs72686911
Chromosome Location	chr8:103843124-103843125
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	chr8:103842811-103843204	GM12878	blood:	n/a	n/a
2	SP1	chr8:103842823-103843300	GM12878	blood:	n/a	n/a
3	POU2F2	chr8:103842783-103843354	GM12891	blood:	n/a	n/a
4	POLR2A	chr8:103842793-103843338	GM12892	blood:	n/a	n/a
5	STAT3	chr8:103842719-103843211	GM12878	blood:	n/a	n/a
6	BHLHE40	chr8:103842723-103843301	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:103842863-103843242	GM12892	blood:	n/a	n/a
8	POU2F2	chr8:103842859-103843241	GM12891	blood:	n/a	n/a
9	RCOR1	chr8:103842705-103843317	GM12878	blood:	n/a	n/a
10	PAX5	chr8:103842726-103843370	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:103842975-103843274	HL-60	blood:	n/a	n/a
12	POLR2A	chr8:103842881-103843285	GM12891	blood:	n/a	n/a
13	EP300	chr8:103842599-103843216	GM12878	blood:	n/a	chr8:103842701-103842710 chr8:103842700-103842714 chr8:103842732-103842746
14	POLR2A	chr8:103843043-103843220	K562	blood:	n/a	n/a
15	POLR2A	chr8:103842870-103843398	GM12878	blood:	n/a	n/a
16	BCLAF1	chr8:103842554-103843422	GM12878	blood:	n/a	n/a
17	RUNX3	chr8:103842528-103843373	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:103842970-103843209	GM12878	blood:	n/a	n/a
19	RUNX3	chr8:103842560-103843323	GM12878	blood:	n/a	n/a
20	EP300	chr8:103842625-103843422	GM12878	blood:	n/a	chr8:103842701-103842710 chr8:103842700-103842714 chr8:103842732-103842746
21	CHD2	chr8:103842852-103843403	GM12878	blood:	n/a	n/a
22	MTA3	chr8:103842494-103843336	GM12878	blood:	n/a	n/a
23	EBF1	chr8:103842921-103843172	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:103842864-103843301	GM12891	blood:	n/a	n/a
25	MXI1	chr8:103842928-103843284	GM12878	blood:	n/a	n/a
26	NFIC	chr8:103842477-103843256	GM12878	blood:	n/a	n/a
27	ZNF384	chr8:103842500-103843126	GM12878	blood:	n/a	n/a
28	CUX1	chr8:103842686-103843364	GM12878	blood:	n/a	n/a
29	POLR2A	chr8:103842958-103843247	GM12891	blood:	n/a	n/a
30	NFIC	chr8:103842489-103843276	GM12878	blood:	n/a	n/a
31	MAX	chr8:103842901-103843222	GM12878	blood:	n/a	n/a
32	RFX5	chr8:103842971-103843168	GM12878	blood:	n/a	n/a
33	ATF2	chr8:103842474-103843401	GM12878	blood:	n/a	n/a
34	POLR2A	chr8:103842997-103843205	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr8:103843037-103843381	GM12878	blood:	n/a	n/a
36	TBL1XR1	chr8:103842648-103843240	GM12878	blood:	n/a	n/a
37	POU2F2	chr8:103842740-103843242	GM12878	blood:	n/a	n/a
38	STAT5A	chr8:103842539-103843202	GM12878	blood:	n/a	n/a
39	NRF1	chr8:103842941-103843175	GM12878	blood:	n/a	n/a
40	NFATC1	chr8:103842577-103843534	GM12878	blood:	n/a	n/a
41	POLR2A	chr8:103842909-103843193	H1-hESC	embryonic stem cell:	n/a	n/a
42	POU2F2	chr8:103842819-103843194	GM12878	blood:	n/a	n/a
43	POLR2A	chr8:103842719-103843492	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103840357..103844768-chr8:103847000..103852337,5	MCF-7	breast:
2	chr8:103835780..103838077-chr8:103842797..103845135,3	MCF-7	breast:
3	chr8:103838838..103843529-chr8:103874630..103876913,6	K562	blood:
4	chr8:103839572..103843466-chr8:103874674..103877109,4	K562	blood:

Variant related genes	Relation type
AZIN1	TF binding region
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11986658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11989703	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12545210	0.88[EUR][1000 genomes]
rs12546520	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12546634	0.80[AMR][1000 genomes]
rs2304344	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4734677	0.84[EUR][1000 genomes]
rs62522580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62526531	0.89[EUR][1000 genomes]
rs6985891	0.89[EUR][1000 genomes]
rs7826791	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103823000-103855000	Weak transcription	Esophagus	oesophagus
2	chr8:103823200-103844000	Weak transcription	Right Ventricle	heart
3	chr8:103823200-103853400	Weak transcription	Right Atrium	heart
4	chr8:103823400-103870600	Weak transcription	Stomach Mucosa	stomach
5	chr8:103826800-103871200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:103827800-103844800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:103833000-103858600	Strong transcription	A549	lung
8	chr8:103833400-103870800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:103833600-103848200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:103833800-103855200	Weak transcription	Small Intestine	intestine
11	chr8:103834400-103853800	Strong transcription	HSMM	muscle
12	chr8:103834600-103853800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:103834600-103856800	Strong transcription	Osteobl	bone
14	chr8:103834600-103867800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr8:103834600-103871200	Strong transcription	K562	blood
16	chr8:103835000-103856600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:103835000-103856800	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr8:103835000-103868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:103835000-103871000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:103835200-103850600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:103835200-103856200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:103835200-103856800	Strong transcription	NHLF	lung
23	chr8:103835200-103870200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:103835200-103874200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:103835400-103856200	Strong transcription	Placenta	Placenta
26	chr8:103835400-103856600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr8:103835600-103845200	Strong transcription	Left Ventricle	heart
28	chr8:103835600-103856600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:103835600-103856800	Strong transcription	Fetal Thymus	thymus
30	chr8:103835600-103857400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:103835600-103867800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr8:103835800-103861800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:103835800-103871000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:103836000-103856200	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr8:103836000-103867800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:103836000-103871000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:103836200-103856600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr8:103836200-103868000	Strong transcription	HMEC	breast
39	chr8:103836200-103873000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:103836400-103849000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:103836600-103849200	Strong transcription	HSMMtube	muscle
42	chr8:103836600-103856600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr8:103836600-103856800	Strong transcription	Fetal Intestine Large	intestine
44	chr8:103836600-103858000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr8:103836600-103870600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr8:103836800-103851400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:103837000-103855000	Strong transcription	Brain Anterior Caudate	brain
48	chr8:103837200-103846200	Strong transcription	Fetal Muscle Leg	muscle
49	chr8:103837200-103856200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr8:103837200-103856800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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