Variant report

Variant	rs6982290
Chromosome Location	chr8:49702425-49702426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:49532689..49535651-chr8:49700291..49702888,3	MCF-7	breast:
2	chr8:49701574..49703321-chr8:49703503..49705202,2	MCF-7	breast:
3	chr8:49678177..49680630-chr8:49701086..49703222,2	MCF-7	breast:
4	chr8:49700836..49703744-chr8:49721219..49722863,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253702	Chromatin interaction
ENSG00000253455	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10087585	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10087909	1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10088320	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10088848	1.00[EUR][1000 genomes]
rs10091785	1.00[EUR][1000 genomes]
rs10093573	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10095974	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096121	1.00[CHB][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096124	1.00[CHB][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103620	0.84[AMR][1000 genomes]
rs10109962	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113231	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10113574	1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10504067	1.00[EUR][1000 genomes]
rs12334368	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12676888	1.00[CHB][hapmap]
rs12679730	0.90[ASN][1000 genomes]
rs16938569	0.89[AMR][1000 genomes]
rs16938608	0.84[AMR][1000 genomes]
rs16938671	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16938732	1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938733	1.00[CHB][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938743	1.00[CHB][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938987	1.00[EUR][1000 genomes]
rs16938995	1.00[EUR][1000 genomes]
rs16939033	1.00[EUR][1000 genomes]
rs16939049	1.00[EUR][1000 genomes]
rs2062114	1.00[CHB][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28376220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28478726	1.00[EUR][1000 genomes]
rs28489723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28489784	0.84[AMR][1000 genomes]
rs28498051	0.89[AMR][1000 genomes]
rs28506917	1.00[EUR][1000 genomes]
rs28513268	1.00[EUR][1000 genomes]
rs28537094	1.00[EUR][1000 genomes]
rs28549334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28615528	1.00[EUR][1000 genomes]
rs28620405	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28636874	1.00[EUR][1000 genomes]
rs28790665	0.89[AMR][1000 genomes]
rs28810807	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56712301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58148301	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59367437	1.00[EUR][1000 genomes]
rs6472028	1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472029	1.00[CHB][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472030	1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472036	1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982783	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989173	1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999874	1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003481	1.00[CHB][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007772	1.00[CHB][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007937	0.84[AMR][1000 genomes]
rs7011713	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73575632	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73575652	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73575695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73575698	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73575700	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73577412	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73577428	1.00[EUR][1000 genomes]
rs73577431	1.00[EUR][1000 genomes]
rs73577459	1.00[EUR][1000 genomes]
rs73577461	1.00[EUR][1000 genomes]
rs73577462	1.00[EUR][1000 genomes]
rs73577463	1.00[EUR][1000 genomes]
rs73577464	1.00[EUR][1000 genomes]
rs73680733	1.00[EUR][1000 genomes]
rs7460794	1.00[EUR][1000 genomes]
rs7838382	1.00[CHB][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840259	1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs922803	1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975744	1.00[CHB][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9773582	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9886604	1.00[EUR][1000 genomes];0.90[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	esv3332047	chr8:49702347-49702699	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49691200-49705400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:49698200-49703000	Enhancers	HMEC	breast
3	chr8:49698800-49704000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:49699000-49703000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:49699000-49705600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:49699200-49703000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:49699400-49705600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:49700000-49702600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:49700200-49703400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:49700400-49703000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:49700600-49705200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:49701600-49703000	Enhancers	Esophagus	oesophagus
13	chr8:49701600-49703400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:49701600-49704200	Weak transcription	Fetal Kidney	kidney
15	chr8:49701800-49702600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:49701800-49703800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:49701800-49703800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:49701800-49703800	Weak transcription	Fetal Lung	lung
19	chr8:49701800-49704600	Weak transcription	Ovary	ovary
20	chr8:49701800-49704800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:49701800-49704800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:49701800-49705000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:49701800-49705400	Weak transcription	Left Ventricle	heart
24	chr8:49701800-49705600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:49702000-49703000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:49702000-49703000	Enhancers	NHEK	skin
27	chr8:49702000-49704000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:49702000-49704200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:49702000-49705600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr8:49702200-49703000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:49702200-49703800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:49702200-49705000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr8:49702200-49705200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr8:49702200-49705400	Weak transcription	HUVEC	blood vessel
35	chr8:49702400-49703800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:49702400-49704400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:49702400-49704600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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