Variant report

Variant	rs11988535
Chromosome Location	chr8:20057739-20057740
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:20049831..20052925-chr8:20057041..20061103,3	K562	blood:
2	chr8:20047045..20049449-chr8:20055849..20058080,2	K562	blood:
3	chr8:20053730..20056872-chr8:20057079..20060453,3	MCF-7	breast:
4	chr8:19800611..19802825-chr8:20055037..20057972,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147416	Chromatin interaction

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

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

rs_ID	r²[population]
rs11987478	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11990886	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6998966	1.00[AMR][1000 genomes]
rs8011	1.00[AMR][1000 genomes]

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	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1015598	chr8:19963102-20088510	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539523	chr8:19963102-20088510	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv6107	chr8:20056154-20100794	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20054400-20058400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:20054600-20057800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:20055400-20059200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr8:20055800-20057800	Flanking Active TSS	Dnd41	blood
5	chr8:20056000-20059400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:20056000-20063800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:20056000-20066200	Weak transcription	Esophagus	oesophagus
8	chr8:20056200-20057800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr8:20056200-20059400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:20056200-20060800	Weak transcription	Placenta	Placenta
11	chr8:20056200-20063000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:20056200-20063000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:20056200-20068200	Weak transcription	Colonic Mucosa	Colon
14	chr8:20056200-20072200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:20056400-20058000	Weak transcription	A549	lung
16	chr8:20056400-20058400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr8:20056400-20058600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:20056400-20058800	Enhancers	Fetal Lung	lung
19	chr8:20056400-20059000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:20056400-20059400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:20056400-20059400	Weak transcription	Small Intestine	intestine
22	chr8:20056400-20060000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr8:20056400-20060600	Weak transcription	Right Ventricle	heart
24	chr8:20056400-20060800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:20056400-20061000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr8:20056400-20063600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr8:20056400-20063800	Weak transcription	Fetal Stomach	stomach
28	chr8:20056400-20066400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:20056400-20066600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr8:20056400-20089600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr8:20056600-20057800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:20056600-20058200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:20056600-20058200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:20056600-20058200	Weak transcription	Brain Germinal Matrix	brain
35	chr8:20056600-20058400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:20056600-20058400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr8:20056600-20059200	Weak transcription	Aorta	Aorta
38	chr8:20056600-20061400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:20056600-20063800	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:20056800-20057800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:20056800-20057800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:20056800-20057800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:20056800-20057800	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:20056800-20057800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:20056800-20058000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:20056800-20058000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:20056800-20058000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:20056800-20058000	Weak transcription	HMEC	breast
49	chr8:20056800-20058200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:20056800-20058200	Weak transcription	GM12878-XiMat	blood

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