Variant report

Variant	rs7821930
Chromosome Location	chr8:130089946-130089947
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	chr8:130088040..130090042-chr8:130091591..130093443,2	MCF-7	breast:
2	chr8:130089152..130091108-chr8:130093655..130097035,3	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10091534	0.91[EUR][1000 genomes]
rs10092630	0.89[EUR][1000 genomes]
rs10095301	0.89[EUR][1000 genomes]
rs10099762	0.89[EUR][1000 genomes]
rs10101123	0.82[EUR][1000 genomes]
rs10103413	0.81[EUR][1000 genomes]
rs10108864	0.89[EUR][1000 genomes]
rs10109509	0.91[EUR][1000 genomes]
rs10110358	0.89[EUR][1000 genomes]
rs10464829	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs10464869	0.81[EUR][1000 genomes]
rs10808575	0.89[EUR][1000 genomes]
rs10808576	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10956460	0.80[EUR][1000 genomes]
rs10956461	0.81[EUR][1000 genomes]
rs11784932	0.82[EUR][1000 genomes]
rs12548560	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13264853	0.91[EUR][1000 genomes]
rs13276597	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1372445	0.80[EUR][1000 genomes]
rs1372446	0.80[EUR][1000 genomes]
rs1866980	0.87[EUR][1000 genomes]
rs2028514	0.82[EUR][1000 genomes]
rs2028515	0.84[EUR][1000 genomes]
rs4266613	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4326354	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4367496	0.80[EUR][1000 genomes]
rs4391393	0.84[EUR][1000 genomes]
rs4445189	0.81[EUR][1000 genomes]
rs4487715	0.84[EUR][1000 genomes]
rs4545059	0.85[EUR][1000 genomes]
rs4628228	0.89[EUR][1000 genomes]
rs55830016	0.82[EUR][1000 genomes]
rs56198698	0.83[ASN][1000 genomes]
rs6470675	0.88[EUR][1000 genomes]
rs6470683	0.81[EUR][1000 genomes]
rs6470685	0.83[EUR][1000 genomes]
rs6470688	0.80[EUR][1000 genomes]
rs6470691	0.84[EUR][1000 genomes]
rs6470693	0.84[EUR][1000 genomes]
rs6989798	0.82[EUR][1000 genomes]
rs6991090	0.82[EUR][1000 genomes]
rs6995803	0.81[EUR][1000 genomes]
rs6997012	0.82[EUR][1000 genomes]
rs7003680	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7008734	0.83[EUR][1000 genomes]
rs7015312	0.91[EUR][1000 genomes]
rs7016655	0.89[EUR][1000 genomes]
rs7017891	0.89[EUR][1000 genomes]
rs7018297	0.89[EUR][1000 genomes]
rs7822165	0.86[EUR][1000 genomes]
rs7827792	0.89[EUR][1000 genomes]
rs7827975	0.88[EUR][1000 genomes]
rs7828005	0.81[ASN][1000 genomes]
rs7833433	0.89[EUR][1000 genomes]
rs7836420	0.86[EUR][1000 genomes]
rs7837430	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7841546	0.92[EUR][1000 genomes]
rs7842220	0.89[EUR][1000 genomes]
rs7842406	0.89[EUR][1000 genomes]
rs7843646	0.89[EUR][1000 genomes]
rs7843900	0.88[EUR][1000 genomes]
rs9297780	0.81[EUR][1000 genomes]
rs9297781	0.89[EUR][1000 genomes]
rs9969663	0.81[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	nsv891442	chr8:130016499-130130604	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891443	chr8:130016499-130220746	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv891444	chr8:130024642-130130604	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130082000-130091400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr8:130085600-130115200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:130088400-130091600	Enhancers	Fetal Thymus	thymus
4	chr8:130088600-130090200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:130088600-130090200	Enhancers	Colon Smooth Muscle	Colon
6	chr8:130088600-130090400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:130088800-130090000	Enhancers	Rectal Smooth Muscle	rectum
8	chr8:130089200-130090000	Enhancers	Thymus	Thymus
9	chr8:130089200-130090200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:130089200-130090200	Enhancers	Fetal Stomach	stomach
11	chr8:130089200-130091200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:130089400-130090000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:130089400-130090200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:130089400-130090200	Enhancers	Fetal Muscle Trunk	muscle
15	chr8:130089400-130090200	Enhancers	Ovary	ovary
16	chr8:130089400-130090200	Enhancers	HUVEC	blood vessel
17	chr8:130089400-130090600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:130089400-130090600	Enhancers	Fetal Muscle Leg	muscle
19	chr8:130089400-130090600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr8:130089400-130090600	Enhancers	Stomach Smooth Muscle	stomach
21	chr8:130089400-130090800	Weak transcription	Fetal Kidney	kidney
22	chr8:130089400-130090800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr8:130089400-130091000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:130089400-130091400	Enhancers	Fetal Lung	lung
25	chr8:130089400-130096400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:130089600-130090000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:130089600-130090200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr8:130089600-130090200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr8:130089600-130090200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:130089600-130090200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr8:130089600-130090600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr8:130089600-130091200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:130089600-130091400	Flanking Active TSS	Dnd41	blood
34	chr8:130089800-130090600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr8:130089800-130090800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:130089800-130094800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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