Variant report

Variant	rs16925242
Chromosome Location	chr8:48268063-48268064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48263378..48268282-chr8:48268711..48274538,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11783141	0.92[YRI][hapmap]
rs12541086	0.92[YRI][hapmap]
rs16926041	1.00[GIH][hapmap]
rs16927336	0.83[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv32677	chr8:48266834-48268145	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48238800-48274600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:48247800-48276400	Weak transcription	Colonic Mucosa	Colon
3	chr8:48248800-48309600	Weak transcription	Thymus	Thymus
4	chr8:48249200-48282000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:48249800-48277400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:48249800-48277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:48253400-48274400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:48253600-48273800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr8:48254600-48268400	Weak transcription	Gastric	stomach
10	chr8:48256200-48274200	Weak transcription	Esophagus	oesophagus
11	chr8:48256400-48272200	Weak transcription	GM12878-XiMat	blood
12	chr8:48256400-48274200	Weak transcription	Primary T cells from cord blood	blood
13	chr8:48256400-48276200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:48256400-48276800	Weak transcription	Dnd41	blood
15	chr8:48256400-48281000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:48256600-48273000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:48262400-48309600	Weak transcription	Fetal Stomach	stomach
18	chr8:48263200-48297200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:48264400-48276000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:48264800-48271000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr8:48265000-48268200	Enhancers	Stomach Mucosa	stomach
22	chr8:48265000-48273200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:48265600-48274200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:48265600-48280200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:48265800-48268200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr8:48266200-48268400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:48266200-48269800	Weak transcription	Ovary	ovary
28	chr8:48266200-48270000	Enhancers	Adipose Nuclei	Adipose
29	chr8:48266200-48271400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:48266200-48274000	Weak transcription	Aorta	Aorta
31	chr8:48266200-48274400	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:48266600-48269800	Weak transcription	K562	blood
33	chr8:48266600-48271800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:48266600-48272000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:48266600-48272000	Weak transcription	NHLF	lung
36	chr8:48266600-48273600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr8:48266600-48277400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:48266600-48278800	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:48266600-48297200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:48266800-48268400	Enhancers	Hela-S3	cervix
41	chr8:48266800-48270400	Weak transcription	Fetal Kidney	kidney
42	chr8:48266800-48270600	Weak transcription	Brain Angular Gyrus	brain
43	chr8:48266800-48271800	Weak transcription	NHDF-Ad	bronchial
44	chr8:48266800-48272200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:48266800-48273000	Weak transcription	Fetal Lung	lung
46	chr8:48266800-48276000	Weak transcription	Fetal Intestine Large	intestine
47	chr8:48266800-48276400	Weak transcription	Fetal Intestine Small	intestine
48	chr8:48266800-48276800	Weak transcription	Brain Substantia Nigra	brain
49	chr8:48266800-48277000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:48266800-48277600	Weak transcription	Rectal Mucosa Donor 29	rectum

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