Variant report

Variant	rs16926453
Chromosome Location	chr8:61654207-61654208
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	CTCF	chr8:61654140-61654290	WERI-Rb-1	eye:	n/a	n/a
2	REST	chr8:61652989-61654246	H1-neurons	neurons:	n/a	chr8:61653485-61653498 chr8:61653340-61653358 chr8:61653345-61653359

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61590410..61592571-chr8:61654156..61656255,3	MCF-7	breast:

Variant related genes	Relation type
CHD7	TF binding region
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12544487	1.00[EUR][1000 genomes]
rs7845701	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61637000-61654600	Weak transcription	Hela-S3	cervix
2	chr8:61638600-61664200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:61644200-61659200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:61644800-61659400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:61645400-61655000	Weak transcription	A549	lung
6	chr8:61646200-61656400	Weak transcription	Liver	Liver
7	chr8:61646400-61654400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:61647400-61655200	Weak transcription	HepG2	liver
9	chr8:61648800-61656600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:61648800-61663800	Weak transcription	HUVEC	blood vessel
11	chr8:61649000-61654800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:61649000-61663800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:61649200-61654400	Weak transcription	Gastric	stomach
14	chr8:61649200-61654600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:61649200-61660800	Weak transcription	Small Intestine	intestine
16	chr8:61649400-61654400	Weak transcription	K562	blood
17	chr8:61651600-61654400	Weak transcription	Esophagus	oesophagus
18	chr8:61651600-61655200	Weak transcription	Fetal Kidney	kidney
19	chr8:61651600-61657000	Enhancers	Brain Substantia Nigra	brain
20	chr8:61651600-61664600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:61651800-61655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:61651800-61655400	Weak transcription	Lung	lung
23	chr8:61651800-61656200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:61651800-61656600	Weak transcription	Right Atrium	heart
25	chr8:61652000-61663600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:61652200-61654800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:61652400-61654600	Weak transcription	Right Ventricle	heart
28	chr8:61652600-61654600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:61652800-61654600	Enhancers	Psoas Muscle	Psoas
30	chr8:61653000-61655200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr8:61653200-61654400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:61653200-61654600	Weak transcription	NH-A	brain
33	chr8:61653200-61663400	Weak transcription	Fetal Brain Female	brain
34	chr8:61653400-61654600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:61653400-61655000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:61653400-61655600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:61653600-61654400	Enhancers	Fetal Brain Male	brain
38	chr8:61653600-61655200	Weak transcription	Brain Anterior Caudate	brain
39	chr8:61653600-61655200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:61653600-61655400	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:61653600-61655400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:61653600-61656400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:61653600-61656600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:61653600-61656600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:61653800-61654400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:61653800-61654600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:61653800-61654600	Enhancers	Brain Germinal Matrix	brain
48	chr8:61653800-61655400	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:61653800-61655600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:61653800-61655800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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