Variant report

Variant	rs530480547
Chromosome Location	chr6:29994042-29994043
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29992994..29995481-chr6:29997109..29999804,2	K562	blood:

Variant related genes	Relation type
ENSG00000232757	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508398	chr6:29825777-30003403	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1031115	chr6:29934199-30058223	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv538172	chr6:29934199-30058223	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv969374	chr6:29992833-30001543	Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29974800-30002400	Weak transcription	Dnd41	blood
2	chr6:29975200-30027800	Weak transcription	Aorta	Aorta
3	chr6:29975600-30027800	Weak transcription	Right Ventricle	heart
4	chr6:29975800-30027800	Weak transcription	Gastric	stomach
5	chr6:29976200-30001800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:29976600-30023000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:29976800-30000800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:29977000-30002000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr6:29977000-30002000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:29977200-30000400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:29977200-30003800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:29977200-30024600	Weak transcription	Brain Anterior Caudate	brain
13	chr6:29977200-30027600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:29977200-30027800	Weak transcription	Fetal Intestine Small	intestine
15	chr6:29979000-30027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:29979400-30024600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr6:29979600-30022800	Weak transcription	Ovary	ovary
18	chr6:29979800-30027800	Weak transcription	Pancreas	Pancrea
19	chr6:29980200-30012000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:29981200-30023000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:29981800-30010600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:29982800-30009800	Weak transcription	Psoas Muscle	Psoas
23	chr6:29982800-30022800	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:29983400-30012400	Weak transcription	NHEK	skin
25	chr6:29984600-30023400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:29985000-30024600	Weak transcription	Brain Angular Gyrus	brain
27	chr6:29985400-30008200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:29987400-30001600	Weak transcription	Primary B cells from cord blood	blood
29	chr6:29987800-29996000	Weak transcription	Lung	lung
30	chr6:29987800-30010600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:29987800-30024800	Weak transcription	Fetal Intestine Large	intestine
32	chr6:29988000-30010400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr6:29988200-30000600	Weak transcription	Brain Substantia Nigra	brain
34	chr6:29988200-30000800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:29988200-30009800	Weak transcription	HepG2	liver
36	chr6:29988200-30022800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:29988200-30027800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:29988200-30027800	Weak transcription	Esophagus	oesophagus
39	chr6:29988400-30001200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:29988400-30006200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr6:29988400-30021600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr6:29988400-30023400	Weak transcription	Adipose Nuclei	Adipose
43	chr6:29988400-30027800	Weak transcription	Thymus	Thymus
44	chr6:29988600-30003800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:29988600-30009800	Weak transcription	Left Ventricle	heart
46	chr6:29988600-30022200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr6:29988600-30027400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr6:29988800-29997600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr6:29988800-30001800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr6:29988800-30001800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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