Variant report

Variant	rs4578186
Chromosome Location	chr1:214574065-214574066
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214573538..214575097-chr1:214575437..214577671,2	K562	blood:
2	chr1:214573161..214575485-chr1:214578817..214580849,2	K562	blood:
3	chr1:214573327..214576130-chr1:214621002..214623077,2	K562	blood:
4	chr1:214573352..214575485-chr1:214578817..214580562,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11120308	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11120309	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1135352	0.87[CEU][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs12030894	0.94[ASN][1000 genomes]
rs1472439	0.87[AFR][1000 genomes]
rs1472443	0.87[AFR][1000 genomes]
rs2291829	0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs2936015	0.81[EUR][1000 genomes]
rs2936016	0.83[EUR][1000 genomes]
rs2936017	0.87[CEU][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs2936018	0.86[CHB][hapmap];0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3002297	0.87[MEX][hapmap];0.81[TSI][hapmap]
rs3002298	0.87[CEU][hapmap];0.91[CHB][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3002299	0.83[EUR][1000 genomes]
rs3002300	0.87[CEU][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs3002301	0.81[EUR][1000 genomes]
rs3002303	0.87[CEU][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs3002305	0.84[EUR][1000 genomes]
rs3002306	0.84[EUR][1000 genomes]
rs3002307	0.87[CEU][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs3002308	0.83[EUR][1000 genomes]
rs3002309	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs3002312	0.83[EUR][1000 genomes]
rs3013442	1.00[ASW][hapmap];0.87[CEU][hapmap];0.91[CHB][hapmap];0.97[GIH][hapmap];0.87[MEX][hapmap];0.86[MKK][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3013446	1.00[ASW][hapmap];0.80[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3013448	0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3013451	0.81[CEU][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap]
rs4129186	0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs4233299	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4311855	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4655248	0.80[ASN][1000 genomes]
rs4655342	1.00[ASW][hapmap];0.81[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6657368	1.00[ASW][hapmap];0.81[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7513473	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7513565	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7524206	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7530350	0.93[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7550799	1.00[ASW][hapmap];0.87[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.93[MKK][hapmap];0.92[TSI][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][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	chr1:214524400-214574400	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:214529000-214584200	Weak transcription	Brain Anterior Caudate	brain
4	chr1:214537600-214577000	Weak transcription	Stomach Mucosa	stomach
5	chr1:214546200-214576000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:214546200-214576200	Weak transcription	Right Atrium	heart
7	chr1:214547800-214576200	Weak transcription	Fetal Heart	heart
8	chr1:214554000-214577800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:214554200-214577800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:214556000-214576000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:214557800-214576200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:214557800-214578000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:214557800-214589000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:214558000-214576600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:214558000-214578200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:214558200-214584000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:214560000-214592000	Weak transcription	Hela-S3	cervix
18	chr1:214560400-214576600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:214560600-214576000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:214560800-214576000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:214563000-214575600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:214563600-214575200	Strong transcription	HUVEC	blood vessel
23	chr1:214563800-214575400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:214563800-214575400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr1:214565200-214577200	Strong transcription	Fetal Muscle Leg	muscle
26	chr1:214565400-214575200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:214565800-214575200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:214567000-214576800	Weak transcription	Spleen	Spleen
29	chr1:214567000-214587600	Weak transcription	HepG2	liver
30	chr1:214567400-214574200	Weak transcription	Right Ventricle	heart
31	chr1:214567400-214578000	Weak transcription	Esophagus	oesophagus
32	chr1:214567600-214576200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:214567600-214584000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:214567800-214574200	Weak transcription	Aorta	Aorta
35	chr1:214567800-214576600	Weak transcription	Lung	lung
36	chr1:214568200-214578200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:214568400-214574400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:214568400-214579200	Weak transcription	Gastric	stomach
39	chr1:214568600-214575000	Strong transcription	HSMM	muscle
40	chr1:214568800-214575000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:214568800-214576000	Strong transcription	NHLF	lung
42	chr1:214569000-214576000	Strong transcription	HMEC	breast
43	chr1:214569200-214575000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:214569400-214574400	Weak transcription	Ovary	ovary
45	chr1:214569600-214574200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:214569800-214574400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:214569800-214576000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:214569800-214576000	Strong transcription	NHEK	skin
49	chr1:214570000-214575800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:214570600-214575000	Strong transcription	NHDF-Ad	bronchial

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