Variant report

Variant	rs571022006
Chromosome Location	chr8:48795270-48795271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv3342946	chr8:48778448-48802085	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	esv3355952	chr8:48792999-48797297	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv6179	chr8:48795179-48817295	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48684400-48861600	Strong transcription	Dnd41	blood
2	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
3	chr8:48722600-48798800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:48738400-48818800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:48739600-48799400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:48739600-48822200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:48739600-48870600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:48739800-48870400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:48751400-48805800	Strong transcription	Fetal Lung	lung
12	chr8:48758200-48799600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:48759800-48808400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr8:48775200-48796000	Weak transcription	Small Intestine	intestine
15	chr8:48775400-48800200	Weak transcription	Stomach Mucosa	stomach
16	chr8:48776800-48797200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:48778600-48838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:48778800-48795800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:48778800-48808200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:48778800-48818200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr8:48778800-48818800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr8:48779400-48808200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr8:48779400-48815800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:48779800-48822200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:48780000-48822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:48782800-48832200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:48783800-48816200	Strong transcription	Liver	Liver
28	chr8:48784000-48816400	Strong transcription	Fetal Muscle Leg	muscle
29	chr8:48784000-48818600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:48784800-48817400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:48785200-48799000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:48785200-48859000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr8:48785400-48796600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:48785400-48799000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:48785400-48799800	Strong transcription	Rectal Smooth Muscle	rectum
36	chr8:48785400-48800000	Strong transcription	Adipose Nuclei	Adipose
37	chr8:48785400-48805800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr8:48785400-48807000	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:48785400-48808400	Strong transcription	A549	lung
40	chr8:48785400-48817800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr8:48785400-48819600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr8:48785400-48826800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:48785400-48833000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:48785600-48813200	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr8:48785600-48819200	Strong transcription	Placenta	Placenta
46	chr8:48785600-48819400	Strong transcription	Osteobl	bone
47	chr8:48785800-48808000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:48785800-48808200	Strong transcription	Hela-S3	cervix
49	chr8:48785800-48822200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr8:48785800-48832000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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