Variant report

Variant	rs561664195
Chromosome Location	chr8:127837419-127837420
allele	-/TTTTTTTTT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:127836927..127839136-chr8:127848377..127851052,2	K562	blood:
2	chr8:127834592..127842945-chr8:128745185..128752445,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249375	Chromatin interaction
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891438	chr8:127670339-127845702	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv1819408	chr8:127835876-127898165	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv1851585	chr8:127836077-127838244	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1846092	chr8:127836077-127838825	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1848524	chr8:127836277-127838744	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv397060	chr8:127836884-127837419	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2111450	chr8:127837418-127837419	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127833600-127839800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:127836800-127837600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:127836800-127837600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr8:127836800-127837600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr8:127836800-127837600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:127836800-127837600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr8:127836800-127837600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:127836800-127837600	Active TSS	Brain Substantia Nigra	brain
9	chr8:127836800-127837600	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr8:127836800-127837600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr8:127836800-127837600	Active TSS	Right Atrium	heart
12	chr8:127836800-127837600	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr8:127836800-127837600	Flanking Active TSS	HUVEC	blood vessel
14	chr8:127836800-127837600	Active TSS	NHDF-Ad	bronchial
15	chr8:127837000-127837600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:127837000-127837600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:127837000-127837600	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr8:127837000-127837800	Enhancers	Fetal Brain Male	brain
19	chr8:127837200-127837600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:127837200-127837600	Flanking Active TSS	A549	lung
21	chr8:127837200-127837600	Flanking Active TSS	NH-A	brain
22	chr8:127837200-127837600	Flanking Active TSS	Osteobl	bone
23	chr8:127837200-127838000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:127837200-127840000	Weak transcription	Fetal Thymus	thymus
25	chr8:127837400-127837600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr8:127837400-127837600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr8:127837400-127837600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:127837400-127837600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:127837400-127837600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:127837400-127837600	Enhancers	Fetal Brain Female	brain
31	chr8:127837400-127837600	Enhancers	Fetal Intestine Small	intestine
32	chr8:127837400-127837600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr8:127837400-127837800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:127837400-127837800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr8:127837400-127837800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr8:127837400-127837800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:127837400-127837800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:127837400-127837800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:127837400-127837800	Enhancers	Fetal Kidney	kidney
40	chr8:127837400-127837800	Weak transcription	Psoas Muscle	Psoas
41	chr8:127837400-127837800	Enhancers	HMEC	breast
42	chr8:127837400-127837800	Flanking Active TSS	HSMMtube	muscle
43	chr8:127837400-127838000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr8:127837400-127838000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:127837400-127838000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr8:127837400-127838000	Enhancers	HSMM	muscle
47	chr8:127837400-127838000	Enhancers	NHEK	skin
48	chr8:127837400-127838400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:127837400-127838400	Enhancers	Brain Germinal Matrix	brain
50	chr8:127837400-127839200	Weak transcription	Placenta	Placenta

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