Variant report

Variant	rs517214
Chromosome Location	chr6:44424376-44424377
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44398603..44399105-chr6:44423995..44424580,2	MCF-7	breast:
2	chr6:44423031..44426172-chr6:44427931..44431207,4	K562	blood:
3	chr6:44397467..44399070-chr6:44423188..44424780,2	K562	blood:
4	chr6:44235516..44236382-chr6:44423771..44424641,3	K562	blood:
5	chr6:44398528..44400400-chr6:44423668..44424679,12	K562	blood:
6	chr6:44398593..44399479-chr6:44423901..44425088,5	MCF-7	breast:
7	chr6:44423082..44425791-chr6:44432215..44434664,2	K562	blood:
8	chr6:44140131..44140861-chr6:44423723..44424697,2	K562	blood:
9	chr6:44397217..44399070-chr6:44421997..44424688,3	K562	blood:

No data

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4714789	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs543844	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs557944	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs566078	0.85[EUR][1000 genomes]
rs928341	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]

No data

Chromatin state (count:97 , 50 per page) page: 1 2

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	chr6:44412600-44424600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:44412800-44424600	Weak transcription	Pancreas	Pancrea
12	chr6:44413600-44427600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:44414200-44424400	Weak transcription	Stomach Mucosa	stomach
14	chr6:44414200-44424600	Weak transcription	Psoas Muscle	Psoas
15	chr6:44415800-44424400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr6:44416000-44424400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:44416000-44424400	Weak transcription	Brain Anterior Caudate	brain
18	chr6:44416000-44424400	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:44416200-44424400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:44416200-44424400	Weak transcription	Adipose Nuclei	Adipose
21	chr6:44416200-44424600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:44416200-44432400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:44416400-44424400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:44416400-44424400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:44416400-44430800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr6:44416600-44424400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr6:44416600-44424400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr6:44419400-44428200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:44420000-44424400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:44420000-44424400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:44420000-44424400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr6:44420000-44424600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:44420200-44424400	Weak transcription	Aorta	Aorta
34	chr6:44420200-44424400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr6:44420200-44424400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:44420200-44424400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:44420400-44424400	Weak transcription	Brain Angular Gyrus	brain
38	chr6:44420400-44424400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:44420400-44424400	Weak transcription	Placenta	Placenta
40	chr6:44420400-44424400	Weak transcription	Lung	lung
41	chr6:44420400-44424400	Weak transcription	Right Atrium	heart
42	chr6:44420400-44424400	Weak transcription	HSMMtube	muscle
43	chr6:44420400-44424600	Weak transcription	Right Ventricle	heart
44	chr6:44420600-44424400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:44420600-44425600	Weak transcription	Fetal Thymus	thymus
46	chr6:44420600-44430200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:44420800-44424400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr6:44420800-44424400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:44420800-44424400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:44420800-44424400	Weak transcription	Liver	Liver

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