Variant report

Variant	rs2930306
Chromosome Location	chr15:74620739-74620740
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	chr15:74617190..74619532-chr15:74620304..74624205,4	K562	blood:
2	chr15:74618878..74621837-chr15:74625148..74627418,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11072478	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs11072479	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12898858	0.81[EUR][1000 genomes]
rs12913682	0.90[EUR][1000 genomes]
rs12914852	0.83[EUR][1000 genomes]
rs12916123	1.00[CEU][hapmap];0.82[JPT][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs1484216	0.84[CEU][hapmap]
rs1564782	0.96[CEU][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1843090	1.00[CEU][hapmap];0.82[JPT][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs1843091	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2277601	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2277602	0.96[CEU][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs2277605	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2277606	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2279356	0.96[CEU][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2279357	0.83[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2415239	0.81[EUR][1000 genomes]
rs2930300	0.84[CEU][hapmap]
rs2930302	0.84[CEU][hapmap]
rs2930304	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs2930305	0.94[EUR][1000 genomes]
rs2959002	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2959004	0.96[CEU][hapmap];0.81[LWK][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs2959006	0.84[CEU][hapmap]
rs2959007	0.84[CEU][hapmap]
rs2959008	0.84[CEU][hapmap]
rs4077581	0.96[CEU][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs4077582	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs41556118	0.81[EUR][1000 genomes]
rs6495096	1.00[CEU][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes]
rs7174179	1.00[CEU][hapmap];0.82[JPT][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs8031121	0.81[CEU][hapmap]
rs8031424	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs900802	0.92[CEU][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.90[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	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv428641	chr15:74555113-74724630	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74604800-74623400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr15:74612000-74657800	Weak transcription	Right Atrium	heart
3	chr15:74616800-74621200	Enhancers	Spleen	Spleen
4	chr15:74617000-74622000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:74617600-74621400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr15:74618400-74621000	Enhancers	Fetal Muscle Leg	muscle
7	chr15:74618800-74621000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:74618800-74621000	Enhancers	Primary hematopoietic stem cells	blood
9	chr15:74618800-74621400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr15:74618800-74621400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr15:74619000-74621400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:74619000-74621400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:74619200-74621200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:74619600-74620800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr15:74619600-74620800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:74619600-74621000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:74619600-74626400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:74619800-74620800	Weak transcription	Ovary	ovary
19	chr15:74620000-74621000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:74620000-74621200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:74620000-74621400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:74620200-74621200	Enhancers	Primary T cells from cord blood	blood
23	chr15:74620200-74621400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr15:74620200-74621800	Enhancers	Fetal Thymus	thymus
25	chr15:74620400-74621000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr15:74620400-74621000	Enhancers	Fetal Muscle Trunk	muscle
27	chr15:74620400-74621400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr15:74620400-74621400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:74620400-74622800	Weak transcription	Placenta	Placenta
30	chr15:74620600-74621200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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