Variant report

Variant	rs555330
Chromosome Location	chr6:44422274-44422275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44392433..44394528-chr6:44420421..44422468,2	K562	blood:
2	chr6:44410364..44415906-chr6:44416897..44422592,7	K562	blood:
3	chr6:44408746..44410322-chr6:44420941..44423520,2	MCF-7	breast:
4	chr6:44214200..44215858-chr6:44420760..44422389,2	K562	blood:
5	chr6:44397217..44399070-chr6:44421997..44424688,3	K562	blood:
6	chr6:44420357..44422515-chr6:44433684..44436230,2	K562	blood:

Variant related genes	Relation type
ENSG00000096384	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs35486197	1.00[EUR][1000 genomes]
rs56248118	1.00[EUR][1000 genomes]
rs56676481	1.00[EUR][1000 genomes]
rs6922598	1.00[EUR][1000 genomes]
rs73734105	1.00[EUR][1000 genomes]
rs73734107	1.00[EUR][1000 genomes]
rs73734110	1.00[EUR][1000 genomes]
rs73734111	1.00[EUR][1000 genomes]
rs7760256	1.00[EUR][1000 genomes]
rs7768357	1.00[EUR][1000 genomes]
rs9462997	1.00[EUR][1000 genomes]

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	nsv885859	chr6:44385441-44422466	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv517370	chr6:44385441-44422689	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv1850024	chr6:44388505-44422689	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44376800-44424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:44388400-44424400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:44396600-44432800	Weak transcription	Fetal Kidney	kidney
4	chr6:44410000-44424400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:44410000-44424400	Weak transcription	Colonic Mucosa	Colon
6	chr6:44410000-44424400	Weak transcription	Spleen	Spleen
7	chr6:44412000-44425800	Weak transcription	Esophagus	oesophagus
8	chr6:44412200-44424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:44412200-44424600	Weak transcription	Gastric	stomach
10	chr6:44412400-44424200	Weak transcription	Fetal Intestine Small	intestine
11	chr6:44412600-44424600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:44412800-44424600	Weak transcription	Pancreas	Pancrea
13	chr6:44413600-44427600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:44414200-44424200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:44414200-44424400	Weak transcription	Stomach Mucosa	stomach
16	chr6:44414200-44424600	Weak transcription	Psoas Muscle	Psoas
17	chr6:44415600-44424200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:44415800-44424400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:44416000-44422400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:44416000-44423600	Weak transcription	Brain Germinal Matrix	brain
21	chr6:44416000-44424200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:44416000-44424400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:44416000-44424400	Weak transcription	Brain Anterior Caudate	brain
24	chr6:44416000-44424400	Weak transcription	Brain Hippocampus Middle	brain
25	chr6:44416200-44423200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:44416200-44424200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr6:44416200-44424400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:44416200-44424400	Weak transcription	Adipose Nuclei	Adipose
29	chr6:44416200-44424600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:44416200-44432400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:44416400-44424400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:44416400-44424400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr6:44416400-44430800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:44416600-44424400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr6:44416600-44424400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:44416800-44423200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:44419000-44422400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:44419400-44422400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:44419400-44428200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:44419600-44422600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:44419800-44422600	Enhancers	HMEC	breast
42	chr6:44420000-44422400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:44420000-44424400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:44420000-44424400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:44420000-44424400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr6:44420000-44424600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:44420200-44423000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr6:44420200-44423200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:44420200-44423600	Weak transcription	Fetal Brain Female	brain
50	chr6:44420200-44424200	Weak transcription	HepG2	liver

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