Variant report

Variant	rs555969040
Chromosome Location	chr6:163992573-163992574
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163931741..163933882-chr6:163991613..163993887,2	K562	blood:
2	chr6:161692680..161695197-chr6:163990943..163993685,2	K562	blood:
3	chr6:163841069..163843300-chr6:163990563..163993244,2	K562	blood:
4	chr6:163832623..163836662-chr6:163990745..163995290,7	K562	blood:
5	chr6:163833058..163837205-chr6:163990300..163993752,7	K562	blood:

Variant related genes	Relation type
ENSG00000026652	Chromatin interaction
ENSG00000270419	Chromatin interaction
ENSG00000112531	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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2758092	chr6:163992064-164161903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2759490	chr6:163992064-164161903	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163949600-163995400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:163951200-163993200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:163952600-163996600	Weak transcription	Gastric	stomach
4	chr6:163959800-163997200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:163960600-163993000	Weak transcription	A549	lung
6	chr6:163965600-163995000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:163970800-164000200	Weak transcription	Right Atrium	heart
8	chr6:163972600-163995600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:163974000-163997000	Weak transcription	Fetal Intestine Small	intestine
10	chr6:163974200-163997000	Weak transcription	Fetal Intestine Large	intestine
11	chr6:163976000-163993200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:163977000-163993000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:163978000-163998000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr6:163978800-163997600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr6:163979200-163996200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:163980000-163997200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:163980200-163996000	Weak transcription	Small Intestine	intestine
18	chr6:163982600-163994000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:163982800-163996800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr6:163982800-163998000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:163983000-163998400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:163983200-163993400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr6:163983200-163997400	Weak transcription	Fetal Brain Female	brain
24	chr6:163984200-163993400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr6:163984800-163994000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:163984800-163995000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:163984800-163995400	Weak transcription	Psoas Muscle	Psoas
28	chr6:163984800-164000000	Weak transcription	Right Ventricle	heart
29	chr6:163985000-164006800	Weak transcription	Spleen	Spleen
30	chr6:163985800-163996600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr6:163985800-163997600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:163986600-164007000	Weak transcription	Aorta	Aorta
33	chr6:163987600-164007000	Weak transcription	Hela-S3	cervix
34	chr6:163987800-164000200	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:163988000-163995400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr6:163989200-163995000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:163989600-163995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:163989600-163997800	Enhancers	Brain Hippocampus Middle	brain
39	chr6:163989800-163994400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:163990400-163992600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:163990600-163993200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:163990800-163992600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:163990800-163992600	Strong transcription	NHDF-Ad	bronchial
44	chr6:163991000-163994000	Strong transcription	HepG2	liver
45	chr6:163991200-163992600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:163991200-163996200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:163991200-164001800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr6:163991400-163993000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:163991400-163993600	Enhancers	Fetal Heart	heart
50	chr6:163991400-163993800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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