Variant report

Variant	rs549988018
Chromosome Location	chr8:131369639-131369640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:131340477..131342836-chr8:131369281..131371407,2	K562	blood:
2	chr8:131273772..131275744-chr8:131368224..131371036,2	MCF-7	breast:
3	chr8:131367705..131370719-chr8:131454770..131456809,3	MCF-7	breast:
4	chr20:49345521..49347747-chr8:131368237..131370408,2	MCF-7	breast:
5	chr8:131342449..131344196-chr8:131369562..131371312,2	MCF-7	breast:
6	chr8:131308649..131310819-chr8:131367686..131370906,3	MCF-7	breast:
7	chr8:131276737..131278356-chr8:131369594..131371515,3	MCF-7	breast:
8	chr8:131340477..131343144-chr8:131369207..131371407,2	K562	blood:
9	chr8:131328726..131330955-chr8:131369323..131371352,2	MCF-7	breast:
10	chr8:131364073..131367147-chr8:131368498..131370803,3	MCF-7	breast:
11	chr8:131359135..131361082-chr8:131369216..131371676,2	MCF-7	breast:
12	chr8:131368827..131370582-chr8:131514661..131517339,2	MCF-7	breast:
13	chr8:131352326..131356339-chr8:131369333..131373155,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv612285	chr8:131367481-131371055	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3324422	chr8:131369595-131372143	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131367200-131370000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr8:131367200-131371400	Active TSS	HSMMtube	muscle
3	chr8:131367800-131371600	Active TSS	HSMM	muscle
4	chr8:131368000-131370000	Flanking Active TSS	K562	blood
5	chr8:131368000-131370200	Flanking Active TSS	Dnd41	blood
6	chr8:131368000-131370400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr8:131368200-131370600	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr8:131368400-131369800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr8:131368400-131369800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr8:131368400-131369800	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr8:131368400-131369800	Genic enhancers	A549	lung
12	chr8:131368400-131370000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:131368400-131370000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr8:131368400-131370000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr8:131368400-131370200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr8:131368400-131371600	Active TSS	Ovary	ovary
17	chr8:131368600-131369800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
18	chr8:131368600-131369800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
19	chr8:131368600-131370000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr8:131368600-131370000	Flanking Active TSS	NH-A	brain
21	chr8:131368600-131370200	Flanking Active TSS	Thymus	Thymus
22	chr8:131368600-131370400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr8:131368600-131370400	Flanking Active TSS	HMEC	breast
24	chr8:131368600-131371600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:131368800-131369800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr8:131368800-131369800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:131368800-131370000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:131368800-131370000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr8:131368800-131370000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr8:131368800-131370000	Flanking Active TSS	Fetal Brain Male	brain
31	chr8:131368800-131370000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr8:131368800-131370200	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
33	chr8:131368800-131370200	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr8:131368800-131370200	Flanking Active TSS	Fetal Thymus	thymus
35	chr8:131368800-131370400	Flanking Active TSS	Placenta	Placenta
36	chr8:131368800-131370600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:131368800-131371200	Active TSS	NHDF-Ad	bronchial
38	chr8:131369000-131369800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:131369000-131369800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr8:131369000-131369800	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr8:131369000-131369800	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr8:131369000-131369800	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr8:131369000-131370000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:131369000-131370000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:131369000-131370000	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr8:131369000-131370000	Flanking Active TSS	Fetal Stomach	stomach
47	chr8:131369000-131370000	Flanking Active TSS	Gastric	stomach
48	chr8:131369000-131370000	Flanking Active TSS	Pancreas	Pancrea
49	chr8:131369000-131370000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr8:131369000-131370000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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