Variant report

Variant	rs7819974
Chromosome Location	chr8:105520130-105520131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:140859129..140859897-chr8:105520075..105520755,2	MCF-7	breast:
2	chr8:105515044..105518143-chr8:105519451..105521196,3	K562	blood:
3	chr8:105516524..105518143-chr8:105519671..105521566,2	K562	blood:
4	chr8:105518486..105520827-chr8:105523063..105525599,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10505059	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10505061	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986052	1.00[EUR][1000 genomes]
rs1347780	1.00[EUR][1000 genomes]
rs16871487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871494	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871501	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871527	1.00[AMR][1000 genomes]
rs16871528	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871529	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871532	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871540	1.00[AMR][1000 genomes]
rs16871542	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871547	1.00[EUR][1000 genomes]
rs16871570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871573	1.00[EUR][1000 genomes]
rs16871574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16871583	1.00[EUR][1000 genomes]
rs16871604	1.00[EUR][1000 genomes]
rs16871610	1.00[EUR][1000 genomes]
rs16871627	1.00[EUR][1000 genomes]
rs16871629	1.00[EUR][1000 genomes]
rs16871659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4476984	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4478539	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4492340	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58610142	1.00[EUR][1000 genomes]
rs59552566	1.00[EUR][1000 genomes]
rs59666618	1.00[EUR][1000 genomes]
rs6468931	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468936	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6468942	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981436	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6981448	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982693	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984951	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6985345	1.00[EUR][1000 genomes]
rs6986854	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988869	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992140	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6997991	1.00[EUR][1000 genomes]
rs6998138	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7000469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009946	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010175	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73293241	1.00[EUR][1000 genomes]
rs73293264	1.00[EUR][1000 genomes]
rs73297124	1.00[EUR][1000 genomes]
rs73299103	1.00[EUR][1000 genomes]
rs73299117	1.00[EUR][1000 genomes]
rs73299119	1.00[EUR][1000 genomes]
rs73299120	1.00[EUR][1000 genomes]
rs73299126	1.00[EUR][1000 genomes]
rs7813227	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813553	1.00[EUR][1000 genomes]
rs7813838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813945	0.87[AFR][1000 genomes]
rs7814211	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7814284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7815131	1.00[EUR][1000 genomes]
rs7815196	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817730	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7819632	1.00[AMR][1000 genomes]
rs7820450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821042	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829983	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832076	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832455	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7835029	1.00[EUR][1000 genomes]
rs7836110	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838122	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7841549	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7845240	1.00[AMR][1000 genomes]
rs9694695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105495600-105525800	Weak transcription	Psoas Muscle	Psoas
2	chr8:105499200-105542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:105501600-105520800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:105501800-105521000	Weak transcription	NHEK	skin
5	chr8:105503600-105520800	Weak transcription	Pancreas	Pancrea
6	chr8:105503600-105525800	Weak transcription	HUVEC	blood vessel
7	chr8:105503800-105525000	Weak transcription	Fetal Stomach	stomach
8	chr8:105503800-105535800	Weak transcription	NHDF-Ad	bronchial
9	chr8:105505400-105521800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:105506000-105520800	Weak transcription	Brain Angular Gyrus	brain
11	chr8:105509600-105535800	Weak transcription	Aorta	Aorta
12	chr8:105510200-105520400	Weak transcription	Lung	lung
13	chr8:105510200-105521200	Weak transcription	Brain Substantia Nigra	brain
14	chr8:105510200-105524600	Weak transcription	NHLF	lung
15	chr8:105510200-105525400	Weak transcription	Primary T cells from cord blood	blood
16	chr8:105510200-105546200	Weak transcription	HMEC	breast
17	chr8:105510400-105521600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:105510400-105539400	Weak transcription	HSMMtube	muscle
19	chr8:105510800-105531000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:105511000-105522200	Weak transcription	Fetal Kidney	kidney
21	chr8:105511000-105525800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:105511000-105527200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:105511000-105529800	Weak transcription	Fetal Lung	lung
24	chr8:105511200-105525200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:105511600-105525600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:105511600-105525600	Weak transcription	GM12878-XiMat	blood
27	chr8:105511800-105520200	Weak transcription	NH-A	brain
28	chr8:105511800-105520400	Weak transcription	Fetal Intestine Large	intestine
29	chr8:105511800-105524600	Weak transcription	Osteobl	bone
30	chr8:105511800-105527000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:105511800-105532600	Weak transcription	HSMM	muscle
32	chr8:105511800-105550200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:105512800-105542000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:105512800-105550200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:105514800-105529200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:105515000-105521000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:105515000-105525600	Weak transcription	Left Ventricle	heart
38	chr8:105515000-105525600	Weak transcription	Thymus	Thymus
39	chr8:105515200-105525200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:105515200-105542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:105517600-105527000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:105517800-105525200	Weak transcription	Fetal Thymus	thymus
43	chr8:105518400-105521200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr8:105518600-105520200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr8:105518600-105520400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:105518600-105521000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:105518800-105520200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr8:105518800-105520400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:105518800-105520400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr8:105518800-105521000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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