Variant report

Variant	rs539818594
Chromosome Location	chr6:38156242-38156243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38149475..38152864-chr6:38153550..38156647,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv524213	chr6:38106844-38160627	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv522522	chr6:38131442-38207636	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv885819	chr6:38148770-38190439	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv520053	chr6:38154941-38207636	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38121000-38159600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr6:38123400-38157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr6:38123400-38176800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:38131800-38167800	Weak transcription	Right Atrium	heart
5	chr6:38133600-38160400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:38133600-38164000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:38136000-38159800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:38138600-38169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:38141600-38166200	Weak transcription	Left Ventricle	heart
10	chr6:38141800-38168000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:38142800-38162000	Weak transcription	Adipose Nuclei	Adipose
12	chr6:38143200-38159200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:38143200-38161200	Weak transcription	Placenta	Placenta
14	chr6:38143600-38162400	Weak transcription	Right Ventricle	heart
15	chr6:38143600-38177200	Weak transcription	Ovary	ovary
16	chr6:38144000-38159200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr6:38144000-38161400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:38144000-38161400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:38144000-38161600	Weak transcription	Thymus	Thymus
20	chr6:38145200-38156400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:38145200-38163400	Weak transcription	Colonic Mucosa	Colon
22	chr6:38145800-38159600	Weak transcription	Fetal Intestine Large	intestine
23	chr6:38145800-38159800	Weak transcription	Liver	Liver
24	chr6:38146000-38162400	Weak transcription	Pancreas	Pancrea
25	chr6:38146400-38161600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr6:38146400-38162400	Weak transcription	Gastric	stomach
27	chr6:38146600-38159400	Weak transcription	Esophagus	oesophagus
28	chr6:38146600-38160800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:38146600-38162400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:38147400-38180400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:38148000-38159600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr6:38148200-38162200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr6:38152000-38161200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:38152000-38166600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr6:38152200-38160000	Weak transcription	Fetal Kidney	kidney
36	chr6:38153200-38160200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr6:38153600-38157000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr6:38153800-38161200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr6:38153800-38161400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:38153800-38164400	Weak transcription	Primary B cells from cord blood	blood
41	chr6:38154000-38159200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:38154400-38162000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:38155000-38157000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:38155000-38157200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:38155200-38156400	Strong transcription	Primary T cells from cord blood	blood
46	chr6:38155200-38156400	Enhancers	Fetal Muscle Leg	muscle
47	chr6:38155200-38157400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:38155200-38159200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr6:38155600-38157000	Strong transcription	Spleen	Spleen
50	chr6:38155600-38157400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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