Variant report

Variant	rs514502
Chromosome Location	chr8:104012069-104012070
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	chr8:104009482..104012163-chr8:104031785..104034084,2	MCF-7	breast:
2	chr8:103874754..103876393-chr8:104010549..104012345,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KB-1507C5.2.1-2	chr8:104011293-104014653	NONHSAT128145

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000254236	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10092124	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10099603	0.86[ASN][1000 genomes]
rs10955300	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11775864	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11777066	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11779536	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11985451	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1512348	0.81[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1566158	0.81[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1849339	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs1913025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2388373	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2679733	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2679734	0.83[ASN][1000 genomes]
rs28693757	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2935582	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2935583	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2942225	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945830	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3018946	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018947	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4373497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4400350	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4592000	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs492009	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs492108	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs494767	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs494941	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs498193	0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs515024	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs522300	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs543674	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs543736	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548291	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs549251	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55743653	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55801214	0.83[ASN][1000 genomes]
rs56004705	0.85[ASN][1000 genomes]
rs563544	0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs565338	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs571301	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs575524	0.82[JPT][hapmap]
rs577704	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs579324	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs582100	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs595227	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596631	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600667	0.86[JPT][hapmap]
rs611839	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs612340	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs612363	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62525305	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62525310	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs626234	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs626253	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs627111	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs640049	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs640903	0.85[ASN][1000 genomes]
rs641814	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs641839	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs661012	0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs688298	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs688308	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs693341	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7013362	0.81[JPT][hapmap]
rs7816151	0.85[ASN][1000 genomes]
rs7816814	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7834756	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7834916	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs868907	0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103993400-104012400	Weak transcription	Spleen	Spleen
2	chr8:104006800-104012400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:104007200-104014400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:104007600-104014200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:104008000-104012200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr8:104008600-104012400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:104009000-104012400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:104010600-104012800	Strong transcription	Primary B cells from cord blood	blood
9	chr8:104010600-104013200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:104010600-104013600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:104010800-104012400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:104010800-104012600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:104011200-104013400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:104011400-104012200	Enhancers	Placenta	Placenta
15	chr8:104011400-104012800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:104011600-104012400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:104011600-104012800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:104011800-104012400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:104011800-104012600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:104011800-104013200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:104011800-104013200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:104011800-104013400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:104011800-104014200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr8:104012000-104012200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:104012000-104012400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:104012000-104012400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:104012000-104012400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:104012000-104012400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr8:104012000-104012400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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