Variant report

Variant	rs28372694
Chromosome Location	chr8:100906593-100906594
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	PML	chr8:100904611-100906655	MCF-7	breast:	n/a	chr8:100905795-100905803
2	ESRRA	chr8:100904111-100906987	GM12878	blood:	n/a	n/a
3	MXI1	chr8:100904506-100906973	SK-N-SH	brain:	n/a	n/a
4	SIN3AK20	chr8:100903547-100906670	MCF-7	breast:	n/a	n/a
5	HCFC1	chr8:100904999-100906847	Hela-S3	cervix:	n/a	n/a
6	MAX	chr8:100905042-100906601	NB4	blood:	n/a	chr8:100905295-100905305
7	WRNIP1	chr8:100904544-100906631	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99954936..99956657-chr8:100904324..100906629,2	MCF-7	breast:
2	chr8:100884579..100893900-chr8:100903048..100907419,14	MCF-7	breast:

Variant related genes	Relation type
COX6C	TF binding region
ENSG00000164919	Chromatin interaction
ENSG00000271930	Chromatin interaction
ENSG00000164920	Chromatin interaction
ENSG00000104375	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1349244	0.82[EUR][1000 genomes]
rs1349245	0.82[EUR][1000 genomes]
rs1449786	0.82[EUR][1000 genomes]
rs16897656	0.82[EUR][1000 genomes]
rs16897662	0.82[EUR][1000 genomes]
rs16897666	0.82[EUR][1000 genomes]
rs16897685	0.82[EUR][1000 genomes]
rs16897701	0.82[EUR][1000 genomes]
rs16897702	0.82[EUR][1000 genomes]
rs16897708	0.82[EUR][1000 genomes]
rs16897713	0.82[EUR][1000 genomes]
rs16897726	0.82[EUR][1000 genomes]
rs16897728	0.82[EUR][1000 genomes]
rs17331148	0.82[EUR][1000 genomes]
rs1979115	0.82[EUR][1000 genomes]
rs1979117	0.82[EUR][1000 genomes]
rs2122341	0.82[EUR][1000 genomes]
rs2167101	0.82[EUR][1000 genomes]
rs4342557	0.82[EUR][1000 genomes]
rs4734435	0.82[EUR][1000 genomes]
rs4734436	0.82[EUR][1000 genomes]
rs4734437	0.82[EUR][1000 genomes]
rs4734438	0.82[EUR][1000 genomes]
rs4734439	0.82[EUR][1000 genomes]
rs4735632	0.82[EUR][1000 genomes]
rs4735634	0.82[EUR][1000 genomes]
rs4735635	0.82[EUR][1000 genomes]
rs4735636	0.82[EUR][1000 genomes]
rs4735637	0.82[EUR][1000 genomes]
rs4735638	0.82[EUR][1000 genomes]
rs4735644	0.82[EUR][1000 genomes]
rs4735645	0.82[EUR][1000 genomes]
rs4735646	0.82[EUR][1000 genomes]
rs57753543	0.82[EUR][1000 genomes]
rs61753724	0.82[EUR][1000 genomes]
rs7003135	0.85[EUR][1000 genomes]
rs73271394	0.82[EUR][1000 genomes]
rs73273207	0.85[EUR][1000 genomes]
rs7833870	0.82[EUR][1000 genomes]
rs7841162	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033944	chr8:100737321-100916345	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv1830910	chr8:100791156-101114794	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS 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 miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100904200-100906600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr8:100904600-100906600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:100904600-100906600	Active TSS	Fetal Kidney	kidney
4	chr8:100904600-100906600	Active TSS	Psoas Muscle	Psoas
5	chr8:100904600-100906800	Active TSS	Rectal Smooth Muscle	rectum
6	chr8:100904800-100906600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:100905000-100906600	Active TSS	Brain Hippocampus Middle	brain
8	chr8:100905000-100906600	Active TSS	Fetal Lung	lung
9	chr8:100905000-100906600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr8:100905200-100906600	Active TSS	Duodenum Mucosa	Duodenum
11	chr8:100905200-100906600	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr8:100905400-100906600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:100905800-100906600	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr8:100906000-100906600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr8:100906000-100906600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr8:100906000-100906600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:100906000-100906600	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr8:100906000-100906600	Flanking Active TSS	Dnd41	blood
19	chr8:100906000-100906600	Flanking Active TSS	K562	blood
20	chr8:100906000-100906600	Flanking Active TSS	NH-A	brain
21	chr8:100906000-100906600	Flanking Active TSS	NHEK	skin
22	chr8:100906000-100906800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr8:100906200-100906600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr8:100906200-100906600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr8:100906200-100906600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:100906200-100906600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr8:100906200-100906600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr8:100906200-100906600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:100906200-100906600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr8:100906200-100906600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:100906200-100906600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr8:100906200-100906600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:100906200-100906600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:100906200-100906600	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr8:100906200-100906600	Flanking Active TSS	Liver	Liver
36	chr8:100906200-100906600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr8:100906200-100906600	Flanking Active TSS	Thymus	Thymus
38	chr8:100906200-100906600	Flanking Active TSS	GM12878-XiMat	blood
39	chr8:100906200-100906800	Flanking Active TSS	A549	lung
40	chr8:100906200-100906800	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr8:100906400-100906600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
42	chr8:100906400-100906600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr8:100906400-100906600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:100906400-100906600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr8:100906400-100906600	Active TSS	Primary T cells from cord blood	blood
46	chr8:100906400-100906600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr8:100906400-100906600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:100906400-100906600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:100906400-100906600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:100906400-100906600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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