Variant report

Variant	rs114006592
Chromosome Location	chr6:56973929-56973930
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	chr6:56956820..56959201-chr6:56973500..56975687,2	K562	blood:
2	chr6:56952370..56954266-chr6:56971549..56974496,2	K562	blood:

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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv462949	chr6:56973902-57098973	ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv603190	chr6:56973902-57098973	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56958200-56979600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:56958800-56974000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:56959200-56975000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:56961800-56975400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:56962600-56974400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:56966600-56974800	Weak transcription	Small Intestine	intestine
7	chr6:56966600-56987600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:56966600-56987600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:56966600-57012400	Weak transcription	Spleen	Spleen
10	chr6:56966800-56987600	Weak transcription	Fetal Intestine Small	intestine
11	chr6:56966800-57018000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:56967000-56979000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:56967000-56981600	Weak transcription	Stomach Mucosa	stomach
14	chr6:56967000-56983400	Weak transcription	Fetal Stomach	stomach
15	chr6:56967200-56979400	Weak transcription	Fetal Heart	heart
16	chr6:56967200-56992200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:56967600-56981400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:56967800-56976800	Weak transcription	Lung	lung
19	chr6:56967800-56992400	Weak transcription	A549	lung
20	chr6:56967800-56995400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:56967800-56995800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:56968000-56974600	Weak transcription	Fetal Brain Male	brain
23	chr6:56968000-56981600	Weak transcription	Ovary	ovary
24	chr6:56968000-56987800	Weak transcription	Aorta	Aorta
25	chr6:56968000-56993400	Weak transcription	Liver	Liver
26	chr6:56968000-56993600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:56968200-56986400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:56968200-56987000	Weak transcription	Fetal Intestine Large	intestine
29	chr6:56968200-57036400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr6:56968400-56974600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:56968400-56993200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:56968400-57000800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:56968600-56974600	Weak transcription	Colon Smooth Muscle	Colon
34	chr6:56968600-56974600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:56968600-56974800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:56968600-56977000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:56968600-56977200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:56968600-56987800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr6:56968600-56987800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr6:56968600-56998200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:56968600-57002200	Weak transcription	Thymus	Thymus
42	chr6:56968600-57006600	Weak transcription	Brain Angular Gyrus	brain
43	chr6:56968600-57018400	Weak transcription	Psoas Muscle	Psoas
44	chr6:56969000-56986600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:56969200-56974000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:56969200-56974600	Weak transcription	NHLF	lung
47	chr6:56969200-56986600	Weak transcription	Fetal Muscle Leg	muscle
48	chr6:56969200-56987200	Weak transcription	Adipose Nuclei	Adipose
49	chr6:56969200-56987600	Weak transcription	Left Ventricle	heart
50	chr6:56969200-56987800	Weak transcription	Rectal Mucosa Donor 29	rectum

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