Variant report

Variant	rs12546636
Chromosome Location	chr8:103847953-103847954
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	GATA3	chr8:103847535-103848072	MCF-7	breast:	n/a	chr8:103847629-103847645

No.	Distal block	Cell Line	Cell type
1	chr8:103847188..103849058-chr8:103867728..103870854,3	K562	blood:
2	chr8:103845693..103863418-chr8:103873617..103879329,26	MCF-7	breast:
3	chr8:103845726..103848177-chr8:103872999..103876884,3	K562	blood:
4	chr8:103840357..103844768-chr8:103847000..103852337,5	MCF-7	breast:

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

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1019975	0.89[AMR][1000 genomes]
rs12546193	0.89[AMR][1000 genomes]
rs12546479	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546634	0.88[AMR][1000 genomes]
rs12546960	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547200	0.89[AMR][1000 genomes]
rs12547652	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548786	0.89[AMR][1000 genomes]
rs12549011	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549073	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550185	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13123	0.89[AMR][1000 genomes]
rs17197736	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198079	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775450	0.89[AMR][1000 genomes]
rs17775510	0.89[AMR][1000 genomes]
rs2137339	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304348	0.89[AMR][1000 genomes]
rs2304349	0.89[AMR][1000 genomes]
rs2388369	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388370	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734670	0.89[AMR][1000 genomes]
rs4734672	0.89[AMR][1000 genomes]
rs4734673	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734674	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522573	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62522574	0.89[AMR][1000 genomes]
rs62522576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522599	0.89[AMR][1000 genomes]
rs62522602	0.89[AMR][1000 genomes]
rs62522603	0.89[AMR][1000 genomes]
rs62522615	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522616	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522617	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522618	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522619	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522620	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522621	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522622	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522623	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522624	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522626	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526529	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999267	0.89[AMR][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	chr8:103823200-103853400	Weak transcription	Right Atrium	heart
3	chr8:103823400-103870600	Weak transcription	Stomach Mucosa	stomach
4	chr8:103826800-103871200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:103833000-103858600	Strong transcription	A549	lung
6	chr8:103833400-103870800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:103833600-103848200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:103833800-103855200	Weak transcription	Small Intestine	intestine
9	chr8:103834400-103853800	Strong transcription	HSMM	muscle
10	chr8:103834600-103853800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:103834600-103856800	Strong transcription	Osteobl	bone
12	chr8:103834600-103867800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr8:103834600-103871200	Strong transcription	K562	blood
14	chr8:103835000-103856600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:103835000-103856800	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr8:103835000-103868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:103835000-103871000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:103835200-103850600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:103835200-103856200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:103835200-103856800	Strong transcription	NHLF	lung
21	chr8:103835200-103870200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:103835200-103874200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:103835400-103856200	Strong transcription	Placenta	Placenta
24	chr8:103835400-103856600	Strong transcription	Duodenum Mucosa	Duodenum
25	chr8:103835600-103856600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:103835600-103856800	Strong transcription	Fetal Thymus	thymus
27	chr8:103835600-103857400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:103835600-103867800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr8:103835800-103861800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:103835800-103871000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:103836000-103856200	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr8:103836000-103867800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:103836000-103871000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:103836200-103856600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr8:103836200-103868000	Strong transcription	HMEC	breast
36	chr8:103836200-103873000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:103836400-103849000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:103836600-103849200	Strong transcription	HSMMtube	muscle
39	chr8:103836600-103856600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr8:103836600-103856800	Strong transcription	Fetal Intestine Large	intestine
41	chr8:103836600-103858000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr8:103836600-103870600	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr8:103836800-103851400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:103837000-103855000	Strong transcription	Brain Anterior Caudate	brain
45	chr8:103837200-103856200	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr8:103837200-103856800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:103837200-103856800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr8:103837400-103848800	Strong transcription	Brain Hippocampus Middle	brain
49	chr8:103837400-103866400	Strong transcription	NHEK	skin
50	chr8:103837600-103856600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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