Variant report

Variant	rs7530350
Chromosome Location	chr1:214570085-214570086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214569144..214571539-chr1:214576463..214577968,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11120308	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11120309	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1135352	0.93[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs12030894	0.92[ASN][1000 genomes]
rs1472439	0.87[AFR][1000 genomes]
rs1472443	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2291829	0.86[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2936014	0.85[CEU][hapmap];0.81[AMR][1000 genomes]
rs2936016	0.82[EUR][1000 genomes]
rs2936017	0.93[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs2936018	0.86[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3002297	0.81[CHB][hapmap]
rs3002298	0.93[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3002299	0.82[EUR][1000 genomes]
rs3002300	0.93[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs3002301	0.82[EUR][1000 genomes]
rs3002303	0.93[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs3002305	0.82[EUR][1000 genomes]
rs3002306	0.83[EUR][1000 genomes]
rs3002307	0.93[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs3002308	0.82[EUR][1000 genomes]
rs3002309	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs3002312	0.82[EUR][1000 genomes]
rs3013442	0.93[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3013446	0.86[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3013448	0.87[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs3013451	0.86[CEU][hapmap];0.81[CHB][hapmap];0.81[AMR][1000 genomes]
rs3013452	0.81[AMR][1000 genomes]
rs3013455	0.81[AMR][1000 genomes]
rs4129186	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4233299	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4311855	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4578186	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]
rs4655248	0.83[ASN][1000 genomes]
rs4655342	0.86[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6657368	0.86[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7513473	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7513565	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7524206	0.93[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7550799	0.93[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

No data

Chromatin state (count:88 , 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	chr1:214556800-214573400	Weak transcription	Fetal Kidney	kidney
12	chr1:214557800-214576200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:214557800-214578000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:214557800-214589000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:214558000-214576600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:214558000-214578200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:214558200-214570600	Weak transcription	Dnd41	blood
18	chr1:214558200-214584000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:214560000-214592000	Weak transcription	Hela-S3	cervix
20	chr1:214560400-214576600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:214560600-214576000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:214560800-214576000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:214563000-214575600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:214563600-214575200	Strong transcription	HUVEC	blood vessel
25	chr1:214563800-214570800	Strong transcription	Fetal Intestine Large	intestine
26	chr1:214563800-214575400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:214563800-214575400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr1:214564200-214570600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:214565200-214570600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:214565200-214570800	Strong transcription	Left Ventricle	heart
31	chr1:214565200-214577200	Strong transcription	Fetal Muscle Leg	muscle
32	chr1:214565400-214572000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:214565400-214575200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:214565800-214570800	Strong transcription	A549	lung
35	chr1:214565800-214575200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:214567000-214576800	Weak transcription	Spleen	Spleen
37	chr1:214567000-214587600	Weak transcription	HepG2	liver
38	chr1:214567400-214570600	Weak transcription	HSMMtube	muscle
39	chr1:214567400-214570600	Genic enhancers	NHDF-Ad	bronchial
40	chr1:214567400-214571000	Genic enhancers	Osteobl	bone
41	chr1:214567400-214573800	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:214567400-214574000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:214567400-214574200	Weak transcription	Right Ventricle	heart
44	chr1:214567400-214578000	Weak transcription	Esophagus	oesophagus
45	chr1:214567600-214570800	Weak transcription	Adipose Nuclei	Adipose
46	chr1:214567600-214573400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr1:214567600-214576200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:214567600-214584000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:214567800-214570400	Weak transcription	Pancreas	Pancrea
50	chr1:214567800-214571200	Weak transcription	H1 Cell Line	embryonic stem cell

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