Variant report

Variant	rs138994218
Chromosome Location	chr6:133113368-133113369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:133098988..133101472-chr6:133113215..133115777,2	K562	blood:
2	chr6:133111344..133113707-chr6:133142113..133144354,2	K562	blood:
3	chr6:133110186..133114155-chr6:133134025..133138982,8	K562	blood:
4	chr6:133107874..133110494-chr6:133110931..133113504,2	K562	blood:

Variant related genes	Relation type
ENSG00000200534	Chromatin interaction
ENSG00000206754	Chromatin interaction
ENSG00000112306	Chromatin interaction
ENSG00000221500	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133083800-133118200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:133085000-133114600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:133085000-133119000	Weak transcription	Thymus	Thymus
4	chr6:133085200-133119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:133085400-133114400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:133085600-133118800	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:133085800-133119000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:133086000-133113800	Weak transcription	NHEK	skin
9	chr6:133086000-133118800	Weak transcription	Fetal Kidney	kidney
10	chr6:133088600-133114600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:133089400-133119400	Weak transcription	Gastric	stomach
12	chr6:133089600-133118800	Weak transcription	Fetal Heart	heart
13	chr6:133089600-133119000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:133089600-133119200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:133089600-133119200	Weak transcription	Right Ventricle	heart
16	chr6:133089600-133119200	Weak transcription	Stomach Mucosa	stomach
17	chr6:133089600-133119400	Weak transcription	Pancreas	Pancrea
18	chr6:133089800-133118200	Weak transcription	Fetal Brain Male	brain
19	chr6:133089800-133118800	Weak transcription	Brain Angular Gyrus	brain
20	chr6:133090000-133118800	Weak transcription	HepG2	liver
21	chr6:133090400-133114200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:133091800-133119000	Weak transcription	Psoas Muscle	Psoas
23	chr6:133098400-133119000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:133098400-133119000	Weak transcription	Brain Substantia Nigra	brain
25	chr6:133098600-133118800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr6:133100400-133114000	Weak transcription	Spleen	Spleen
27	chr6:133100400-133114200	Weak transcription	Fetal Brain Female	brain
28	chr6:133100400-133114400	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:133100400-133118600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:133100400-133118800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr6:133100400-133119000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:133100600-133113600	Weak transcription	HMEC	breast
33	chr6:133100600-133114600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr6:133100600-133114600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:133100600-133118000	Weak transcription	Small Intestine	intestine
36	chr6:133100600-133118200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr6:133100600-133118800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr6:133100600-133118800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:133100600-133118800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:133100600-133119000	Weak transcription	Aorta	Aorta
41	chr6:133100600-133119000	Weak transcription	Fetal Thymus	thymus
42	chr6:133100600-133119000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:133101000-133118800	Weak transcription	Liver	Liver
44	chr6:133103000-133119000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr6:133104200-133114800	Strong transcription	Primary T cells from cord blood	blood
46	chr6:133106200-133114400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:133106400-133114200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:133106400-133116600	Weak transcription	Fetal Lung	lung
49	chr6:133106400-133117000	Strong transcription	Primary B cells from cord blood	blood
50	chr6:133106600-133119200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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