Variant report

Variant	rs4233299
Chromosome Location	chr1:214575807-214575808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214573327..214576130-chr1:214621002..214623077,2	K562	blood:
2	chr1:214573538..214575097-chr1:214575437..214577671,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11120308	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11120309	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12030894	0.90[ASN][1000 genomes]
rs3002298	0.84[EUR][1000 genomes]
rs3013442	0.85[EUR][1000 genomes]
rs4129186	0.91[ASN][1000 genomes]
rs4311855	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4578186	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7513473	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7513565	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7524206	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7530350	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7550799	0.85[EUR][1000 genomes]

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214519200-214577200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:214529000-214584200	Weak transcription	Brain Anterior Caudate	brain
3	chr1:214537600-214577000	Weak transcription	Stomach Mucosa	stomach
4	chr1:214546200-214576000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:214546200-214576200	Weak transcription	Right Atrium	heart
6	chr1:214547800-214576200	Weak transcription	Fetal Heart	heart
7	chr1:214554000-214577800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:214554200-214577800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:214556000-214576000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:214557800-214576200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:214557800-214578000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:214557800-214589000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:214558000-214576600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:214558000-214578200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:214558200-214584000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:214560000-214592000	Weak transcription	Hela-S3	cervix
17	chr1:214560400-214576600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:214560600-214576000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:214560800-214576000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:214565200-214577200	Strong transcription	Fetal Muscle Leg	muscle
21	chr1:214567000-214576800	Weak transcription	Spleen	Spleen
22	chr1:214567000-214587600	Weak transcription	HepG2	liver
23	chr1:214567400-214578000	Weak transcription	Esophagus	oesophagus
24	chr1:214567600-214576200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:214567600-214584000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:214567800-214576600	Weak transcription	Lung	lung
27	chr1:214568200-214578200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:214568400-214579200	Weak transcription	Gastric	stomach
29	chr1:214568800-214576000	Strong transcription	NHLF	lung
30	chr1:214569000-214576000	Strong transcription	HMEC	breast
31	chr1:214569800-214576000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:214569800-214576000	Strong transcription	NHEK	skin
33	chr1:214570600-214576000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:214570800-214576000	Weak transcription	Psoas Muscle	Psoas
35	chr1:214570800-214576200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:214570800-214579200	Weak transcription	Pancreas	Pancrea
37	chr1:214571800-214578000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:214571800-214578600	Strong transcription	Fetal Stomach	stomach
39	chr1:214572600-214612600	Weak transcription	Fetal Intestine Small	intestine
40	chr1:214572800-214577200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:214573000-214576800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:214573000-214577600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:214573200-214578400	Weak transcription	Colonic Mucosa	Colon
44	chr1:214573400-214576800	Strong transcription	Fetal Intestine Large	intestine
45	chr1:214573400-214577000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:214573400-214579400	Genic enhancers	Osteobl	bone
47	chr1:214573600-214578600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:214573800-214591000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:214574000-214576000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:214574200-214577000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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